#string_protein_id,preferred_name,protein_size,annotation 9606.ENSP00000000233,ARF5,180,ADP-ribosylation factor 5; GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. Belongs to the small GTPase superfamily. Arf family. 9606.ENSP00000000412,M6PR,277,Cation-dependent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. 9606.ENSP00000001008,FKBP4,459,"Peptidyl-prolyl cis-trans isomerase FKBP4, N-terminally processed; Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May [...] " 9606.ENSP00000001146,CYP26B1,512,"Cytochrome P450 26B1; Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13- cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA. Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4. Essential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing test [...] " 9606.ENSP00000002125,NDUFAF7,441,"Protein arginine methyltransferase NDUFAF7, mitochondrial; Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex." 9606.ENSP00000002165,FUCA2,467,"Plasma alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins; Belongs to the glycosyl hydrolase 29 family." 9606.ENSP00000002596,HS3ST1,307,Heparan sulfate glucosamine 3-O-sulfotransferase 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. 9606.ENSP00000002829,SEMA3F,785,Semaphorin-3F; May play a role in cell motility and cell adhesion. 9606.ENSP00000003084,CFTR,1480,Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH [...] 9606.ENSP00000003100,CYP51A1,509,"Lanosterol 14-alpha demethylase; A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25- dihydrolanosterol likely through sequential oxidative conversion of 14- alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P45 [...] " 9606.ENSP00000003302,USP28,1077,"Ubiquitin carboxyl-terminal hydrolase 28; Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically intera [...] " 9606.ENSP00000004531,SLC7A2,698,"Cationic amino acid transporter 2; Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine). May play a role in classic [...] " 9606.ENSP00000004982,HSPB6,160,Heat shock protein beta-6; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding- competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity. 9606.ENSP00000005178,PDK4,411,"[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonge [...] " 9606.ENSP00000005226,USH1C,899,Harmonin; USH1 protein network component harmonin. 9606.ENSP00000005257,RALA,206,"Ras-related protein Ral-A; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin- dependent membrane raft exocytosis and growth signaling. Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of t [...] " 9606.ENSP00000005260,BAIAP2L1,511,Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1; May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. 9606.ENSP00000005284,CACNG3,315,"Voltage-dependent calcium channel gamma-3 subunit; Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state." 9606.ENSP00000005286,TMEM132A,1024,Transmembrane protein 132A; May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity); Belongs to the TMEM132 family. 9606.ENSP00000005340,DVL2,736,Segment polarity protein dishevelled homolog DVL-2; Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling; Belongs to the DSH family. 9606.ENSP00000005386,RPAP3,665,"RNA polymerase II-associated protein 3; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Belongs to the RPAP3 family." 9606.ENSP00000005587,SKAP2,359,"Src kinase-associated phosphoprotein 2; May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway. Belongs to the SKAP family." 9606.ENSP00000005995,PRSS21,314,Testisin; Could regulate proteolytic events associated with testicular germ cell maturation. 9606.ENSP00000006015,HOXA11,313,Homeobox protein Hox-A11; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000006053,CX3CL1,397,"Processed fractalkine; Acts as a ligand for both CX3CR1 and integrins. Binds to CX3CR1. Binds to integrins ITGAV:ITGB3 and ITGA4:ITGB1. Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner. In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins. In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1. The soluble form is chemotactic for T-cells and monocytes and not for neutrophils. The membran [...] " 9606.ENSP00000006275,TRAPPC6A,173,Trafficking protein particle complex subunit 6A; May play a role in vesicular transport during the biogenesis of melanosomes. 9606.ENSP00000006526,WDR54,334,"WD repeat-containing protein 54; When cross-linked to form dimers and trimers, it has a regulatory effect on ERK signaling pathway activity in response to EGF stimulation. Colocalizes with the EGF receptor in WDR54-specific vesicle where it sustains the internalization and controls the degradation of the EGF receptor after EGF stimulation." 9606.ENSP00000006658,SPATA20,802,Spermatogenesis-associated protein 20; May play a role in fertility regulation. 9606.ENSP00000006724,CEACAM7,265,CEA cell adhesion molecule 7; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000006777,RHBDD2,364,Rhomboid domain containing 2; Belongs to the peptidase S54 family. 9606.ENSP00000007390,TSR3,312,Ribosome biogenesis protein TSR3 homolog; Probable pre-rRNA processing protein involved in ribosome biogenesis. 9606.ENSP00000007414,OSBPL7,842,Oxysterol binding protein like 7; Belongs to the OSBP family. 9606.ENSP00000007699,YBX2,364,Y-box-binding protein 2; Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5'-UCCAUCA- 3' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplas [...] 9606.ENSP00000007735,KRT33A,404,"Keratin, type I cuticular Ha3-I; Keratin 33A; Belongs to the intermediate filament family." 9606.ENSP00000008391,TFAP2D,452,"Transcription factor AP-2-delta; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity)." 9606.ENSP00000008527,CRY1,586,"Cryptochrome-1; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal [...] " 9606.ENSP00000008938,PGLYRP1,196,"Peptidoglycan recognition protein 1; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity." 9606.ENSP00000009041,STARD3NL,234,STARD3 N-terminal-like protein; Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB ; Belongs to the STARD3 family. 9606.ENSP00000009105,CAMK1G,476,Calcium/calmodulin-dependent protein kinase type 1G; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity). 9606.ENSP00000009530,CD74,296,HLA class II histocompatibility antigen gamma chain; Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF. 9606.ENSP00000010299,FAM76A,341,Protein FAM76A; Family with sequence similarity 76 member A. 9606.ENSP00000011292,CPA1,419,"Carboxypeptidase A1; Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro; Belongs to the peptidase M14 family." 9606.ENSP00000011473,SYPL1,259,Synaptophysin-like protein 1; Synaptophysin like 1; Belongs to the synaptophysin/synaptobrevin family. 9606.ENSP00000011619,RANBP9,729,"Ran-binding protein 9; May act as scaffolding protein, and as adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Acts as a mediator of cell spreading and actin cytoskeleton rearrangement. Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Enhances d [...] " 9606.ENSP00000011653,CD4,458,"T-cell surface glycoprotein CD4; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kina [...] " 9606.ENSP00000011898,TSPAN9,239,Tetraspanin-9; Tetraspanin 9; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000012049,QPCTL,382,Glutaminyl-peptide cyclotransferase-like protein; Responsible for the biosynthesis of pyroglutamyl peptides. 9606.ENSP00000012443,PPP5C,499,"Serine/threonine-protein phosphatase 5; Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT. Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses. Pa [...] " 9606.ENSP00000013070,UBR7,425,"Putative E3 ubiquitin-protein ligase UBR7; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation." 9606.ENSP00000013125,MAP4K5,846,Mitogen-activated protein kinase kinase kinase kinase 5; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. 9606.ENSP00000013222,INMT,263,"Indolethylamine N-methyltransferase; Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds." 9606.ENSP00000013807,ERCC1,323,"DNA excision repair protein ERCC-1; [Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4; Belongs to t [...] " 9606.ENSP00000014914,GPRC5A,357,Retinoic acid-induced protein 3; Orphan receptor. Could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G-protein signaling pathways. Functions as a negative modulator of EGFR signaling (By similarity). May act as a lung tumor suppressor. 9606.ENSP00000014930,HEBP1,189,"Heme-binding protein 1; May bind free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N-methylprotoporphyrin with similar affinities; Belongs to the HEBP family." 9606.ENSP00000016171,COX15,410,Cytochrome c oxidase assembly protein COX15 homolog; May be involved in the biosynthesis of heme A. Belongs to the COX15/CtaA family. 9606.ENSP00000016913,MS4A12,267,Membrane-spanning 4-domains subfamily A member 12; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family. 9606.ENSP00000016946,RGPD5,1765,RANBP2-like and GRIP domain-containing protein 5/6; RANBP2 like and GRIP domain containing 5. 9606.ENSP00000017003,XYLT2,865,"Xylosyltransferase 2; Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein; Belongs to the glycosyltransferase 14 family. XylT subfamily." 9606.ENSP00000019103,SCTR,440,"Secretin receptor; Receptor for secretin (SCT), which is involved in different processes such as regulation of the pH of the duodenal content, food intake and water homeostasis. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity). Upon binding to secretin, regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). In addition to regulating the pH of the duodena [...] " 9606.ENSP00000020926,SYT13,426,Synaptotagmin-13; May be involved in transport vesicle docking to the plasma membrane; Belongs to the synaptotagmin family. 9606.ENSP00000020945,SNAI2,268,"Zinc finger protein SNAI2; Transcriptional repressor that modulates both activator- dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box- containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in [...] " 9606.ENSP00000023064,SLC7A9,487,"B(0,+)-type amino acid transporter 1; Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule; Belongs to the amino acid-polyamine-organocation (APC) superfamily." 9606.ENSP00000023939,RTF2,336,Replication termination factor 2; Replication termination factor which is a component of the elongating replisome (Probable). Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion (Probable). Interacts with nascent DNA ; Belongs to the rtf2 family. 9606.ENSP00000025008,RB1CC1,1594,"RB1-inducible coiled-coil protein 1; Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their [...] " 9606.ENSP00000025301,AKAP11,1901,A-kinase anchor protein 11; Binds to type II regulatory subunits of protein kinase A and anchors/targets them; Belongs to the AKAP110 family. 9606.ENSP00000026218,PIGQ,760,"Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis." 9606.ENSP00000027335,CDH17,832,Cadherin-17; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. 9606.ENSP00000029410,B4GALT7,327,"Beta-1,4-galactosyltransferase 7; Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts; Belongs to the glycosyltransferase 7 family." 9606.ENSP00000033079,FAM13B,915,Protein FAM13B; Family with sequence similarity 13 member B. 9606.ENSP00000035307,CHPF2,772,Chondroitin sulfate glucuronyltransferase; Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity. 9606.ENSP00000037243,GABARAPL2,117,Gamma-aminobutyric acid receptor-associated protein-like 2; Ubiquitin-like modifier involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy. Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved [...] 9606.ENSP00000037502,MYOC,504,"Myocilin, C-terminal fragment; Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. [...] " 9606.ENSP00000039007,OTC,354,"Ornithine carbamoyltransferase, mitochondrial; Ornithine carbamoyltransferase; Belongs to the aspartate/ornithine carbamoyltransferase superfamily. OTCase family." 9606.ENSP00000039989,TTC17,1141,Tetratricopeptide repeat protein 17; Plays a role in primary ciliogenesis by modulating actin polymerization. 9606.ENSP00000040584,HOXC8,242,Homeobox protein Hox-C8; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. 9606.ENSP00000040663,MRI1,369,"Methylthioribose-1-phosphate isomerase; Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover." 9606.ENSP00000040738,BOD1L1,3051,Biorientation of chromosomes in cell division protein 1-like 1; Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2- dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM. Does not regulate spindle orientation ; Belongs to the BOD1 family. 9606.ENSP00000040877,TARBP1,1621,Probable methyltransferase TARBP1; Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs. 9606.ENSP00000043402,RTN4R,473,"Reticulon-4 receptor; Receptor for RTN4, OMG and MAG. Functions as receptor for the sialylated gangliosides GT1b and GM1. Besides, functions as receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR. Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton. Mediates axonal growth inhibition. Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain develo [...] " 9606.ENSP00000044462,PSMA4,261,"Proteasome subunit alpha type-4; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000045083,RIPOR3,946,RIPOR family member 3. 9606.ENSP00000046087,ZPBP,351,Zona pellucida-binding protein 1; Plays a role in acrosome compaction and sperm morphogenesis. Is implicated in sperm-oocyte interaction during fertilization (By similarity). 9606.ENSP00000046794,LCP2,533,Lymphocyte cytosolic protein 2; Involved in T-cell antigen receptor mediated signaling. 9606.ENSP00000052754,DCN,359,Decorin; May affect the rate of fibrils formation. 9606.ENSP00000053243,TNFRSF17,184,Tumor necrosis factor receptor superfamily member 17; Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK. 9606.ENSP00000053468,MRPS10,201,Mitochondrial ribosomal protein S10; Belongs to the universal ribosomal protein uS10 family. 9606.ENSP00000053469,GUCA1A,201,Guanylyl cyclase-activating protein 1; Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity). 9606.ENSP00000053867,GRN,593,"Paragranulin; Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation. Regulates protein trafficking to lysosomes and, also the activity of lysosomal enzymes. Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB. In addition, functions as wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structures (By similarity). Also promotes epithelia [...] " 9606.ENSP00000054650,THAP3,239,THAP domain-containing protein 3; Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. 9606.ENSP00000054666,VAMP3,100,Vesicle-associated membrane protein 3; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. 9606.ENSP00000054668,UTS2,139,Urotensin-2; Highly potent vasoconstrictor; Belongs to the urotensin-2 family. 9606.ENSP00000054950,RCN1,331,Reticulocalbin-1; May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment; Belongs to the CREC family. 9606.ENSP00000055077,RFC2,354,Replication factor C subunit 2; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity). 9606.ENSP00000055335,PPP1R3F,799,Protein phosphatase 1 regulatory subunit 3F; Glycogen-targeting subunit for protein phosphatase 1 (PP1). 9606.ENSP00000055682,NEXMIF,1516,"Neurite extension and migration factor; Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1)." 9606.ENSP00000056217,ARHGEF5,1597,"Rho guanine nucleotide exchange factor 5; Guanine nucleotide exchange factor which activates Rho GTPases. Strongly activates RHOA. Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization. Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia. Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration [...] " 9606.ENSP00000056233,NFE2L3,694,"Nuclear factor erythroid 2-related factor 3; Activates erythroid-specific, globin gene expression." 9606.ENSP00000061240,TLL1,1013,"Tolloid-like protein 1; Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis." 9606.ENSP00000064571,CBLN4,201,Cerebellin-4; Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for the formation and maintenance of inhibitory GABAergic synapses (By similarity). Promotes the development of dendrite-targeting inhibitory GABAergic synapses made by somatostatin-positive interneurons (By similarity). May contribute to the function of ventral medial habenula region of the brain implicated in the regulation of anxiety-related behaviors (By similarity). May play a role in CBLN3 export from the endoplasmic reticulum and secretion (By similarity). 9606.ENSP00000064724,CLDN11,207,"Claudin-11; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000064778,FAM168A,244,"Protein FAM168A; In cancer context, protects cells from induced-DNA damage and apoptosis. Acts, at least in part, through PI3K/AKT/NFKB signaling pathway and by preventing POLB degradation. Decreases POLB ubiquitation and stabilizes its protein levels." 9606.ENSP00000064780,RELT,430,"Tumor necrosis factor receptor superfamily member 19L; May play a role in apoptosis. Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed. Involved in dental enamel formation. Belongs to the RELT family." 9606.ENSP00000070846,PKP2,881,Plakophilin-2; May play a role in junctional plaques. 9606.ENSP00000072644,YIPF1,306,Protein YIPF1; Yip1 domain family member 1; Belongs to the YIP1 family. 9606.ENSP00000072869,ADCK2,626,"Uncharacterized aarF domain-containing protein kinase 2; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr)." 9606.ENSP00000074304,INPP4A,977,"Inositol polyphosphate-4-phosphatase type I A; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). Catalyzes also inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D- aspartate-type glutamate receptors (NMDARs) and NMDAR-media [...] " 9606.ENSP00000075120,SLC2A3,496,"Solute carrier family 2, facilitated glucose transporter member 3; Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane. Mediates the uptake of glucose, 2- deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate. Does not mediate fructose transport. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily." 9606.ENSP00000075503,STYK1,422,"Tyrosine-protein kinase STYK1; Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (By similarity)." 9606.ENSP00000078429,GNA11,359,Guanine nucleotide-binding protein subunit alpha-11; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C. 9606.ENSP00000078445,CREB3L3,461,"Processed cyclic AMP-responsive element-binding protein 3-like protein 3; Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression." 9606.ENSP00000080059,HDAC7,991,"Histone deacetylase 7; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression [...] " 9606.ENSP00000081029,MRPS35,323,Mitochondrial ribosomal protein S35. 9606.ENSP00000083182,APPBP2,585,Amyloid protein-binding protein 2; May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface. 9606.ENSP00000084798,CA11,328,Carbonic anhydrase-related protein 11; Does not have a catalytic activity. 9606.ENSP00000085068,ISOC2,221,Isochorismatase domain containing 2. 9606.ENSP00000085219,CD22,847,"B-cell receptor CD22; Mediates B-cell B-cell interactions. May be involved in the localization of B-cells in lymphoid tissues. Binds sialylated glycoproteins; one of which is CD45. Preferentially binds to alpha-2,6- linked sialic acid. The sialic acid recognition site can be masked by cis interactions with sialic acids on the same cell surface. Upon ligand induced tyrosine phosphorylation in the immune response seems to be involved in regulation of B-cell antigen receptor signaling. Plays a role in positive regulation through interaction with Src family tyrosine kinases and may also ac [...] " 9606.ENSP00000086933,GSC2,205,Homeobox protein goosecoid-2; May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC; Belongs to the paired homeobox family. Bicoid subfamily. 9606.ENSP00000155093,ZFY,801,Zinc finger Y-chromosomal protein; Probable transcriptional activator. Binds to the consensus sequence 5'-AGGCCY-3'. 9606.ENSP00000155840,KCNQ1,676,"Potassium voltage-gated channel subfamily KQT member 1; Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity). Associates with KCNE beta subunits that modulates current kinetics (By similarity). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac r [...] " 9606.ENSP00000155858,TRPM5,1165,"Transient receptor potential cation channel subfamily M member 5; Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). A [...] " 9606.ENSP00000155926,TRIB2,343,Tribbles homolog 2; Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. 9606.ENSP00000156084,OTUD5,571,OTU domain-containing protein 5; Deubiquitinating enzyme that functions as negative regulator of the innate immune system. Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Can also cleave 'Lys-11'-linked ubiquitin chains (in vitro). 9606.ENSP00000156109,GPKOW,476,G-patch domain and KOW motifs-containing protein; RNA-binding protein involved in pre-mRNA splicing. 9606.ENSP00000156471,AQR,1485,"RNA helicase aquarius; Involved in pre-mRNA splicing as component of the spliceosome. Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the l [...] " 9606.ENSP00000156626,ST6GALNAC1,600,"ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1." 9606.ENSP00000157600,LMCD1,365,"LIM and cysteine-rich domains protein 1; Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6- mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway." 9606.ENSP00000157812,PSMC4,418,"26S proteasome regulatory subunit 6B; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC4 belongs to the heterohexameric ring of AAA (ATPases associated wit [...] " 9606.ENSP00000158009,FNDC8,324,Fibronectin type III domain containing 8. 9606.ENSP00000158762,ACAP1,740,"Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1; GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration." 9606.ENSP00000158771,DERL2,239,"Derlin-2; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins. May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the [...] " 9606.ENSP00000159060,NOX3,568,"NADPH oxidase 3; NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity." 9606.ENSP00000159087,ANO8,1232,Anoctamin-8; Does not exhibit calcium-activated chloride channel (CaCC) activity. 9606.ENSP00000159111,KDM4B,1096,"Lysine-specific demethylase 4B; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys- 20'. Only able to demethylate trimethylated H3 'Lys-9', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate." 9606.ENSP00000160262,ICAM3,547,"Intercellular adhesion molecule 3; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha- L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages ; Belongs to the immunoglobulin superfamily. ICAM family." 9606.ENSP00000160373,CTTNBP2,1663,"Cortactin-binding protein 2; Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance." 9606.ENSP00000160382,ACTL6B,426,"Actin-like protein 6B; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. [...] " 9606.ENSP00000160827,KIF22,665,Kinesin-like protein KIF22; Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells. 9606.ENSP00000161006,PRSS22,317,Brain-specific serine protease 4; Preferentially cleaves the synthetic substrate H-D-Leu-Thr- Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA. 9606.ENSP00000161559,CEACAM1,526,"Carcinoembryonic antigen-related cell adhesion molecule 1; [Isoform 1]: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis. Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils. Up [...] " 9606.ENSP00000161863,YTHDC2,1430,"3'-5' RNA helicase YTHDC2; 3'-5' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells. Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non- coding RNAs that plays a role in the efficiency of RNA processing and stability. Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs (By similarity). Acts by binding and promoting degradation of m6 [...] " 9606.ENSP00000162044,TMEM161A,479,Transmembrane protein 161A; May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis. 9606.ENSP00000162391,FOXJ2,574,Forkhead box protein J2; Transcriptional activator. Able to bind to two different type of DNA binding sites. Isoform FOXJ2.L behaves as a more potent transactivator than FOXJ2.S. 9606.ENSP00000162749,TNFRSF1A,455,"Tumor necrosis factor receptor superfamily member 1A, membrane form; Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase." 9606.ENSP00000163416,GOLGA5,731,Golgin subfamily A member 5; Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport. 9606.ENSP00000164024,CELSR3,3312,Cadherin EGF LAG seven-pass G-type receptor 3; Receptor that may have an important role in cell/cell signaling during nervous system formation; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. 9606.ENSP00000164133,PPP2R5B,497,"Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform; As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation." 9606.ENSP00000164139,PYGM,842,"Glycogen phosphorylase, muscle form; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties." 9606.ENSP00000164227,BCL3,454,"B-cell lymphoma 3 protein; Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity)." 9606.ENSP00000164305,PIGB,554,"GPI mannosyltransferase 3; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2- GlcN-acyl-PI during GPI precursor assembly. Belongs to the glycosyltransferase 22 family. PIGB subfamily." 9606.ENSP00000165524,PRLH,87,Prolactin-releasing peptide PrRP20; Stimulates prolactin (PRL) release and regulates the expression of prolactin through its receptor GPR10. May stimulate lactotrophs directly to secrete PRL. 9606.ENSP00000166139,FSTL3,263,"Follistatin-related protein 3; Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow st [...] " 9606.ENSP00000166244,EPHA8,1005,"Ephrin type-A receptor 8; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin sub [...] " 9606.ENSP00000166345,TRIP13,432,"Pachytene checkpoint protein 2 homolog; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher- order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for [...] " 9606.ENSP00000167106,VASH1,365,"Tubulinyl-Tyr carboxypeptidase 1; Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function. Critical for spindle function and accurate chromosome segregation during mitosis since microtuble detyronisation regulates mitotic spindle length and postioning. Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis. This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells [...] " 9606.ENSP00000167586,KRT14,472,"Keratin, type I cytoskeletal 14; The nonhelical tail domain is involved in promoting KRT5- KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro." 9606.ENSP00000167588,KRT20,424,"Keratin, type I cytoskeletal 20; Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine (By similarity)." 9606.ENSP00000168148,SPP2,211,Secreted phosphoprotein 24; Could coordinate an aspect of bone turnover. 9606.ENSP00000168216,HSD17B10,261,"3-hydroxyacyl-CoA dehydrogenase type-2; Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha- hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). Essential for structural [...] " 9606.ENSP00000168712,FGF4,206,"Fibroblast growth factor 4; Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis." 9606.ENSP00000169298,ST6GAL1,406,"Beta-galactoside alpha-2,6-sialyltransferase 1; Transfers sialic acid from CMP-sialic acid to galactose- containing acceptor substrates." 9606.ENSP00000169551,TIMM21,248,Mitochondrial import inner membrane translocase subunit Tim21; Participates in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes. Be [...] 9606.ENSP00000170150,BPIFB2,458,BPI fold containing family B member 2; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. 9606.ENSP00000170168,REXO1,1221,RNA exonuclease 1 homolog; Seems to have no detectable effect on transcription elongation in vitro; Belongs to the REXO1/REXO3 family. 9606.ENSP00000170447,MKRN2,416,Probable E3 ubiquitin-protein ligase makorin-2; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. 9606.ENSP00000170564,GPATCH1,931,G-patch domain containing 1; Belongs to the GPATCH1 family. 9606.ENSP00000171757,P2RY10,339,Putative P2Y purinoceptor 10; Putative receptor for purines coupled to G-proteins. 9606.ENSP00000171887,TNS1,1735,"Tensin-1; Involved in fibrillar adhesion formation. May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton." 9606.ENSP00000172229,NGFR,427,"Tumor necrosis factor receptor superfamily member 16; Low affinity receptor which can bind to NGF, BDNF, NTF3, and NTF4. Forms a heterodimeric receptor with SORCS2 that binds the precursor forms of NGF, BDNF and NTF3 with high affinity, and has much lower affinity for mature NGF and BDNF. Plays an important role in differentiation and survival of specific neuronal populations during development (By similarity). Can mediate cell survival as well as cell death of neural cells. Plays a role in the inactivation of RHOA. Plays a role in the regulation of the translocation of GLUT4 to the ce [...] " 9606.ENSP00000173229,NTN1,604,"Netrin-1; Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion. Involved in dorsal root ganglion axon projection towards the spinal cord. It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating [...] " 9606.ENSP00000173527,ISOC1,298,Isochorismatase domain containing 1. 9606.ENSP00000173898,TRO,1431,Trophinin; Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion. 9606.ENSP00000174618,MNT,582,"Max-binding protein MNT; Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'." 9606.ENSP00000175091,LAPTM4A,233,Lysosomal-associated transmembrane protein 4A; May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment. 9606.ENSP00000175238,ADAM7,754,Disintegrin and metalloproteinase domain-containing protein 7; May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity). 9606.ENSP00000175756,PTPN18,460,Tyrosine-protein phosphatase non-receptor type 18; Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. 9606.ENSP00000176183,DRD4,419,"D(4) dopamine receptor; Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs. Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase. Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity)." 9606.ENSP00000176195,SCT,121,"Secretin; Hormone involved in different processes, such as regulation of the pH of the duodenal content, food intake and water homeostasis. Exerts its biological effects by binding to secretin receptor (SCTR), a G-protein coupled receptor expressed in the basolateral domain of several cells. Acts as a key gastrointestinal hormone by regulating the pH of the duodenal content (By similarity). Secreted by S cells of the duodenum in the crypts of Lieberkuehn and regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) s [...] " 9606.ENSP00000176763,STK10,968,"Serine/threonine-protein kinase 10; Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo." 9606.ENSP00000177694,TBX21,535,"T-box transcription factor TBX21; Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs. Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN- gamma and the chemokine receptor CXCR3. Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4-containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and [...] " 9606.ENSP00000177742,MRPS34,225,"28S ribosomal protein S34, mitochondrial; Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation. Belongs to the mitochondrion-specific ribosomal protein mS34 family." 9606.ENSP00000178638,CA12,354,Carbonic anhydrase 12; Reversible hydration of carbon dioxide. Belongs to the alpha-carbonic anhydrase family. 9606.ENSP00000178640,MAP2K5,448,"Dual specificity mitogen-activated protein kinase kinase 5; Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and angiogenesis." 9606.ENSP00000179259,TIGAR,270,"Fructose-2,6-bisphosphatase TIGAR; Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate. Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production. Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death. Plays a [...] " 9606.ENSP00000180166,FGF20,211,Fibroblast growth factor 20; Neurotrophic factor that regulates central nervous development and function. 9606.ENSP00000180173,MTMR7,660,"Myotubularin-related protein 7; Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3- bisphosphate (Ins(1,3)P2)." 9606.ENSP00000181383,CPB2,423,Carboxypeptidase B2; Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin. Belongs to the peptidase M14 family. 9606.ENSP00000181796,FAM107B,306,Protein FAM107B; Family with sequence similarity 107 member B. 9606.ENSP00000181839,CDK13,1512,"Cyclin-dependent kinase 13; Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the prod [...] " 9606.ENSP00000182290,TSPAN32,320,Tetraspanin-32; Tetraspanin 32; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000182527,TRAM2,370,"Translocating chain-associated membrane protein 2; Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT)." 9606.ENSP00000184183,ROPN1,212,"Ropporin-1A; Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation. Belongs to the ropporin family." 9606.ENSP00000184266,NDUFB4,129,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000184956,HEATR6,1181,HEAT repeat-containing protein 6; Amplification-dependent oncogene. 9606.ENSP00000185150,ERLEC1,483,Endoplasmic reticulum lectin 1; Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non- glycosylated proteins and glycoproteins. 9606.ENSP00000185206,CLIC5,410,"Chloride intracellular channel protein 5; Required for normal hearing. It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture. Plays a role in formation of the lens suture in the eye, which is important for normal [...] " 9606.ENSP00000186436,TMEM131,1883,Transmembrane protein 131; May play a role in the immune response to viral infection. Belongs to the TMEM131 family. 9606.ENSP00000187762,TMEM38A,299,Trimeric intracellular cation channel type A; Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores. 9606.ENSP00000188312,ACTR6,396,Actin related protein 6; Belongs to the actin family. ARP6 subfamily. 9606.ENSP00000188790,FAP,760,"Antiplasmin-cleaving enzyme FAP, soluble form; Cell surface glycoprotein serine protease that participates in extracellular matrix degradation and involved in many cellular processes including tissue remodeling, fibrosis, wound healing, inflammation and tumor growth. Both plasma membrane and soluble forms exhibit post-proline cleaving endopeptidase activity, with a marked preference for Ala/Ser-Gly-Pro-Ser/Asn/Ala consensus sequences, on substrate such as alpha-2-antiplasmin SERPINF2 and SPRY2. Degrade also gelatin, heat-denatured type I collagen, but not native collagen type I and IV, [...] " 9606.ENSP00000190165,DMRT3,472,Doublesex- and mab-3-related transcription factor 3; Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity); Belongs to the DMRT family. 9606.ENSP00000192314,GAL3ST2,398,"Galactose-3-O-sulfotransferase 2; Transfers a sulfate group to the hydroxyl group at C3 of non- reducing beta-galactosyl residues. Acts both on type 1 (Gal-beta-1,3- GlcNAc) and type 2 (Gal-beta-1,4-GlcNAc) chains with similar efficiency." 9606.ENSP00000192788,UHRF1BP1,1440,UHRF1-binding protein 1; May act as a negative regulator of cell growth. 9606.ENSP00000193322,OSTM1,334,Osteopetrosis-associated transmembrane protein 1; Required for osteoclast and melanocyte maturation and function; Belongs to the OSTM1 family. 9606.ENSP00000193391,IMPG2,1241,Interphotoreceptor matrix proteoglycan 2; Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin. 9606.ENSP00000194130,SLC13A1,595,Solute carrier family 13 member 1; Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney; Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. 9606.ENSP00000194152,PCDHB4,795,Protocadherin beta-4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000194155,PCDHB2,798,Protocadherin beta-2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000194214,HSPB11,144,"Intraflagellar transport protein 25 homolog; Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male ferti [...] " 9606.ENSP00000194530,STRADB,418,"STE20-related kinase adapter protein beta; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity)." 9606.ENSP00000196061,PLOD1,727,"Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys- Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable)." 9606.ENSP00000196371,OXCT1,520,"Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate; Belongs to the 3-oxoacid CoA-transferase family." 9606.ENSP00000196489,ZNF416,594,Zinc finger protein 416; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000197268,FAM234B,622,Protein FAM234B; Family with sequence similarity 234 member B. 9606.ENSP00000198536,PILRA,303,Paired immunoglobulin-like type 2 receptor alpha; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP. 9606.ENSP00000198767,RRN3,651,"RNA polymerase I-specific transcription initiation factor RRN3; Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity)." 9606.ENSP00000198801,MOGAT2,334,2-acylglycerol O-acyltransferase 2; Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity. 9606.ENSP00000199280,AQP2,271,"Aquaporin-2; Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Plays an essential role in renal water homeostasis." 9606.ENSP00000199320,DIMT1,313,Probable dimethyladenosine transferase; Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. 9606.ENSP00000199389,EIF2AK1,630,"Eukaryotic translation initiation factor 2-alpha kinase 1; Inhibits protein synthesis at the translation initiation level, in response to various stress conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function through the phosphorylation of EIF2S1 at 'Ser-48' and 'Ser- 51', thus preventing its recycling. Binds hemin forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique heme-se [...] " 9606.ENSP00000199447,NME8,588,"Thioredoxin domain-containing protein 3; Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds." 9606.ENSP00000199448,EPDR1,224,Mammalian ependymin-related protein 1; Binds anionic lipids and gangliosides at acidic pH. Belongs to the ependymin family. 9606.ENSP00000199708,HBQ1,142,Hemoglobin subunit theta 1. 9606.ENSP00000199764,CEACAM6,344,"Carcinoembryonic antigen-related cell adhesion molecule 6; Cell surface glycoprotein that plays a role in cell adhesion and tumor progression. Intercellular adhesion occurs in a calcium- and fibronectin-independent manner. Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8. Heterophilic interaction with CEACAM8 occurs in activated neutrophils. Plays a role in neutrophil adhesion to cytokine-activated endothelial cells. Plays a role as an oncogene by promoting tumor progression; positively r [...] " 9606.ENSP00000199814,RBM22,420,Pre-mRNA-splicing factor RBM22; Required for pre-mRNA splicing as component of the activated spliceosome. Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem- loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses. Belongs to the SLT11 family. 9606.ENSP00000199936,HSD17B2,387,"Estradiol 17-beta-dehydrogenase 2; Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha- HSD activity. Uses NADH while EDH17B3 uses NADPH; Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000200135,ZW10,779,"Centromere/kinetochore protein zw10 homolog; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex. Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assemb [...] " 9606.ENSP00000200181,ITGB4,1822,Integrin beta-4; Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling. ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling. 9606.ENSP00000200453,PPP1R15A,674,"Protein phosphatase 1 regulatory subunit 15A; Recruits the serine/threonine-protein phosphatase PP1 to dephosphorylate the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing TP53 phosphorylation on 'Ser-15'." 9606.ENSP00000200457,TRIP6,476,"Thyroid receptor-interacting protein 6; Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF- kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor. Belongs to the zyxin/ajuba family." 9606.ENSP00000200557,ADAM11,769,Disintegrin and metalloproteinase domain-containing protein 11; Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. 9606.ENSP00000200652,SLC22A4,551,"Solute carrier family 22 member 4; Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET)." 9606.ENSP00000200676,CETP,493,"Cholesteryl ester transfer protein; Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL. Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination ; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family." 9606.ENSP00000200691,MT3,68,Metallothionein-3; Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro. 9606.ENSP00000201031,TFAP2C,450,"Transcription factor AP-2 gamma; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer." 9606.ENSP00000201586,SULT2B1,365,"Sulfotransferase 2B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol. Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA). Preferentially sulfonates cholesterol, while it has also significant activity with pregnenolone and DHEA. Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation." 9606.ENSP00000201647,EPS8L1,723,Epidermal growth factor receptor kinase substrate 8-like protein 1; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. Belongs to the EPS8 family. 9606.ENSP00000201979,REM1,298,GTP-binding protein REM 1; Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling. 9606.ENSP00000202017,PDRG1,133,P53 and DNA damage-regulated protein 1; May play a role in chaperone-mediated protein folding. 9606.ENSP00000202556,PPP1R13B,1090,Apoptosis-stimulating of p53 protein 1; Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. 9606.ENSP00000202625,TGM6,706,Protein-glutamine gamma-glutamyltransferase 6; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins; Belongs to the transglutaminase superfamily. Transglutaminase family. 9606.ENSP00000202677,RALGAPA2,1873,Ral GTPase-activating protein subunit alpha-2; Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB. 9606.ENSP00000202816,ESF1,851,ESF1 homolog; May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity). 9606.ENSP00000202967,SIRT4,314,"NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner. Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitoch [...] " 9606.ENSP00000203001,TRMT6,497,"tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; Substrate-binding subunit of tRNA (adenine-N(1)-)- methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. Together with the TRMT61A catalytic subunit, part of a mRNA N(1)- methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries. Belongs to the TRM6/GCD10 family." 9606.ENSP00000203407,UQCRC1,480,"Cytochrome b-c1 complex subunit 1, mitochondrial; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradie [...] " 9606.ENSP00000203556,GMIP,970,"GEM-interacting protein; Stimulates, in vitro and in vivo, the GTPase activity of RhoA." 9606.ENSP00000203629,LAG3,525,"Secreted lymphocyte activation gene 3 protein; Lymphocyte activation gene 3 protein: Inhibitory receptor on antigen activated T-cells. Delivers inhibitory signals upon binding to ligands, such as FGL1 (By similarity). FGL1 constitutes a major ligand of LAG3 and is responsible for LAG3 T-cell inhibitory function (By similarity). Following TCR engagement, LAG3 associates with CD3-TCR in the immunological synapse and directly inhibits T-cell activation (By similarity). May inhibit antigen-specific T-cell activation in synergy with PDCD1/PD-1, possibly by acting as a coreceptor for PDCD1/P [...] " 9606.ENSP00000203630,MLF2,248,Myeloid leukemia factor 2. 9606.ENSP00000203664,OTUB2,234,"Ubiquitin thioesterase OTUB2; Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of 'Lys-11'-,'Lys-48'- and 'Lys-63'-linked polyubiquitin chains, with a preference for 'Lys-63'-linked polyubiquitin chains; Belongs to the peptidase C65 family." 9606.ENSP00000204517,TFAP4,338,Transcription factor AP-4; Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'-CAGCTG-3'. 9606.ENSP00000204549,PDCD7,485,Programmed cell death protein 7; Promotes apoptosis when overexpressed. 9606.ENSP00000204566,SPG21,308,Maspardin; May play a role as a negative regulatory factor in CD4- dependent T-cell activation. 9606.ENSP00000204604,CHRD,955,Chordin; Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity); Belongs to the chordin family. 9606.ENSP00000204679,GNPTG,305,"N-acetylglucosamine-1-phosphotransferase subunit gamma; Non-catalytic subunit of the N-acetylglucosamine-1- phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors." 9606.ENSP00000204726,GOLGA3,1498,Golgin subfamily A member 3; Golgi auto-antigen; probably involved in maintaining Golgi structure. 9606.ENSP00000204961,EFNB1,346,"Ephrin-B1 intracellular domain; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells. Shows high affinity for the receptor tyrosine kinase EPHB1/ELK. Can also bind EPHB2 and EPHB3. Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientati [...] " 9606.ENSP00000205061,GLG1,1203,Golgi apparatus protein 1; Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils). 9606.ENSP00000205143,DLL3,618,Delta-like protein 3; Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity). 9606.ENSP00000205194,NAT14,206,N-acetyltransferase 14; Probable acetyltransferase that binds the 5'-GGACTACAG-3' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro. 9606.ENSP00000205214,AASDH,1098,"Beta-alanine-activating enzyme; Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post- translational protein modification or for post-transcriptional modification of an RNA." 9606.ENSP00000205402,DLD,509,"Dihydrolipoyl dehydrogenase, mitochondrial; Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched- chain amino acid-dehydrogenase complex). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2- oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KA [...] " 9606.ENSP00000205557,ABCC6,1503,Multidrug resistance-associated protein 6; [Isoform 1]: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS). Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 9606.ENSP00000205636,CMTM6,183,"CKLF-like MARVEL transmembrane domain-containing protein 6; Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ul [...] " 9606.ENSP00000205948,APOH,345,"Beta-2-glycoprotein 1; Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells." 9606.ENSP00000206020,SPAG7,227,Sperm associated antigen 7. 9606.ENSP00000206262,RGS17,210,"Regulator of G-protein signaling 17; Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity)." 9606.ENSP00000206423,CCDC80,950,Coiled-coil domain-containing protein 80; Promotes cell adhesion and matrix assembly. 9606.ENSP00000206474,HAUS4,363,"HAUS augmin-like complex subunit 4; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex." 9606.ENSP00000206513,CEBPE,281,CCAAT/enhancer-binding protein epsilon; Transcriptional activator. C/EBP are DNA- binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation. Belongs to the bZIP family. C/EBP subfamily. 9606.ENSP00000206542,OSGEP,335,"Probable tRNA N6-adenosine threonylcarbamoyltransferase; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity. Belongs to the KAE1 / TsaD family." 9606.ENSP00000206595,G2E3,706,G2/M phase-specific E3 ubiquitin-protein ligase; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. 9606.ENSP00000206765,TGM1,817,Protein-glutamine gamma-glutamyltransferase K; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation ; Belongs to the transglutaminase superfamily. Transglutaminase family. 9606.ENSP00000207457,TEKT2,430,Tektin-2; Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. 9606.ENSP00000207549,UNC13D,1090,"Protein unc-13 homolog D; Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)- dependent secretory lysosome exocytosis in mast cells." 9606.ENSP00000207870,XYLB,536,"Xylulose kinase; Phosphorylates D-xylulose to produce D-xylulose 5-phosphate, a molecule that may play an important role in the regulation of glucose metabolism and lipogenesis." 9606.ENSP00000209668,ADH1A,375,"Alcohol dehydrogenase 1A, alpha polypeptide; Belongs to the zinc-containing alcohol dehydrogenase family." 9606.ENSP00000209718,KRT23,422,"Keratin, type I cytoskeletal 23; Keratin 23." 9606.ENSP00000209728,CDC6,560,Cell division control protein 6 homolog; Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated. 9606.ENSP00000209873,AAAS,546,Aladin; Plays a role in the normal development of the peripheral and central nervous system. Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment. 9606.ENSP00000209875,CBX5,191,"Chromobox protein homolog 5; Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins." 9606.ENSP00000209884,KLHL20,609,"Kelch-like protein 20; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination. Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting inte [...] " 9606.ENSP00000209929,FMO2,535,"Dimethylaniline monooxygenase [N-oxide-forming] 2; Catalyzes the N-oxidation of certain primary alkylamines to their oximes via an N-hydroxylamine intermediate. Inactive toward certain tertiary amines, such as imipramine or chloropromazine. Can catalyze the S-oxidation of methimazole." 9606.ENSP00000210060,DHPS,369,Deoxyhypusine synthase; Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue. This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function. 9606.ENSP00000210187,RAB26,256,"Ras-related protein Rab-26; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane. Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach. Plays a rol [...] " 9606.ENSP00000210313,PSMD5,504,"26S proteasome non-ATPase regulatory subunit 5; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD5:PSMC2:PSMC1:PSMD2 module which probably assembles with a PSMD10:PSMC4:PSMC5:PAAF1 module followed by dissociation of PSMD5." 9606.ENSP00000210444,NANS,359,"Sialic acid synthase; Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy- D-glycero-D-galacto-nononic acid (KDN). Can also use N- acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively." 9606.ENSP00000210633,SEMA4G,843,Semaphorin-4G; Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity). 9606.ENSP00000211076,TPSD1,242,Tryptase delta; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type; Belongs to the peptidase S1 family. Tryptase subfamily. 9606.ENSP00000211122,GSTA3,222,"Glutathione S-transferase A3; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,20-dione, precursors to testosterone and progesterone, respectively." 9606.ENSP00000211287,MAPK13,365,"Mitogen-activated protein kinase 13; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studie [...] " 9606.ENSP00000211314,TMEM14A,99,Transmembrane protein 14A; Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; Belongs to the TMEM14 family. 9606.ENSP00000211413,PRRT1,306,Proline rich transmembrane protein 1. 9606.ENSP00000211936,ZNF184,751,Zinc finger protein 184; May be involved in transcriptional regulation. 9606.ENSP00000211998,VCL,1134,Vinculin; Actin filament (F-actin)-binding protein involved in cell- matrix adhesion and cell-cell adhesion. Regulates cell-surface E- cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion; Belongs to the vinculin/alpha-catenin family. 9606.ENSP00000212015,SIRT1,747,"NAD-dependent protein deacetylase sirtuin-1; NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expres [...] " 9606.ENSP00000212355,TGFBR3,851,Transforming growth factor beta receptor type 3; Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors. 9606.ENSP00000214869,TMED1,227,"Transmembrane emp24 domain-containing protein 1; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side." 9606.ENSP00000215057,MZF1,734,Myeloid zinc finger 1; Binds to target promoter DNA and functions as transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000215061,OCEL1,264,occludin/ELL domain containing 1; Belongs to the ELL/occludin family. 9606.ENSP00000215071,PSMD8,350,"26S proteasome non-ATPase regulatory subunit 8; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S14 family." 9606.ENSP00000215095,STX1B,288,Syntaxin-1B; Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity). 9606.ENSP00000215368,EFNA2,213,"Ephrin-A2; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling thro [...] " 9606.ENSP00000215375,ATP5F1D,168,"ATP synthase subunit delta, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the c [...] " 9606.ENSP00000215530,FGF22,170,"Fibroblast growth factor 22; Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development." 9606.ENSP00000215531,SMIM24,130,Small integral membrane protein 24. 9606.ENSP00000215565,NDUFB7,137,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000215567,TECR,308,"Very-long-chain enoyl-CoA reductase; Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway. Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme reduces the trans-2,3-enoyl- CoA fatty acid intermediate to an acyl-CoA that can be furth [...] " 9606.ENSP00000215570,TIMM13,95,Mitochondrial import inner membrane translocase subunit Tim13; Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8- TIMM13 complex mediates the import of proteins [...] 9606.ENSP00000215574,CDC34,236,"Ubiquitin-conjugating enzyme E2 R1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'- linked polyubiquitination. Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3- primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Coope [...] " 9606.ENSP00000215582,MISP,679,"Mitotic interactor and substrate of PLK1; Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus; Belongs to the MISP family." 9606.ENSP00000215631,GADD45B,160,Growth arrest and DNA damage-inducible protein GADD45 beta; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK. 9606.ENSP00000215637,MADCAM1,382,"Mucosal addressin cell adhesion molecule 1; Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in supporting integrin alpha-4/beta-7- dependent adhesion strengthening, independent of L-selectin binding." 9606.ENSP00000215659,MAPK12,367,"Mitogen-activated protein kinase 12; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstre [...] " 9606.ENSP00000215727,SERPIND1,499,"Heparin cofactor 2; Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan- independent manner; Belongs to the serpin family." 9606.ENSP00000215730,SNAP29,258,"Synaptosomal-associated protein 29; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions; Belongs to the SNAP-25 family." 9606.ENSP00000215742,THAP7,309,"THAP domain-containing protein 7; Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressors." 9606.ENSP00000215743,MMP11,488,Stromelysin-3; May play an important role in the progression of epithelial malignancies. 9606.ENSP00000215754,MIF,115,"Macrophage migration inhibitory factor; Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti-inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity." 9606.ENSP00000215770,DDTL,134,D-dopachrome decarboxylase-like protein; May have lyase activity; Belongs to the MIF family. 9606.ENSP00000215781,OSM,252,"Oncostatin-M; Growth regulator. Inhibits the proliferation of a number of tumor cell lines. Stimulates proliferation of AIDS-KS cells. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. Uses both type I OSM receptor (heterodimers composed of LIFR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST). Involved in the maturation of fetal hepatocytes, thereby promoting liver development and regeneration (By similarity). Belongs to the LIF/OSM family." 9606.ENSP00000215793,SF3A1,793,"Splicing factor 3A subunit 1; Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex. Involved in pre-mRNA splicing as a component of pre- catalytic spliceosome 'B' complexes." 9606.ENSP00000215794,USP18,372,Ubl carboxyl-terminal hydrolase 18; Involved in the regulation of inflammatory response to interferon type 1. Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms. Belongs to the peptidase C19 family. 9606.ENSP00000215812,SEC14L3,400,"SEC14-like protein 3; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids." 9606.ENSP00000215829,SNRPD3,126,"Small nuclear ribonucleoprotein Sm D3; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (By similarity)." 9606.ENSP00000215832,MAPK1,360,"Mitogen-activated protein kinase 1; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] " 9606.ENSP00000215838,TCN2,427,Transcobalamin-2; Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells; Belongs to the eukaryotic cobalamin transport proteins family. 9606.ENSP00000215855,CRYBB3,211,"Beta-crystallin B3, N-terminally processed; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family." 9606.ENSP00000215882,SLC25A1,311,"Tricarboxylate transport protein, mitochondrial; Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate. Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway. Required for proper neuromuscular junction formation (Probable)." 9606.ENSP00000215885,PLA2G3,509,Group 3 secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl-phosphatidylethanolamine (PE) > 1- palmitoyl-2-linoleoyl-PC > 1-palmitoyl-2-arachidonoyl-PC > 1-palmitoyl- 2-arachidonoyl-PE. Plays a role in ciliogenesis. 9606.ENSP00000215886,LGALS2,132,Galectin-2; This protein binds beta-galactoside. Its physiological function is not yet known. 9606.ENSP00000215904,PDXP,296,"Pyridoxal phosphate phosphatase; Protein serine phosphatase that dephosphorylates 'Ser-3' in cofilin and probably also dephosphorylates phospho-serine residues in DSTN. Regulates cofilin-dependent actin cytoskeleton reorganization. Required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phospho-threonines in LIMK1. Does not dephosphorylate peptides containing phospho-tyrosine. Pyridoxal phosphate (PLP) phosphatase, which also catalyzes the dephosphorylation of pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'- phosphate (PMP), with order of substra [...] " 9606.ENSP00000215906,ASPHD2,369,Aspartate beta-hydroxylase domain-containing protein 2; May function as 2-oxoglutarate-dependent dioxygenase. 9606.ENSP00000215909,LGALS1,135,"Galectin-1; Lectin that binds beta-galactoside and a wide array of complex carbohydrates. Plays a role in regulating apoptosis, cell proliferation and cell differentiation. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Strong inducer of T-cell apoptosis." 9606.ENSP00000215912,PIK3IP1,263,Phosphoinositide-3-kinase-interacting protein 1; Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity. 9606.ENSP00000215917,SRRD,339,SRR1-like protein; Plays a role in the regulation of heme biosynthesis and in the regulation of the expression of core clock genes. 9606.ENSP00000215941,ANKRD54,300,Ankyrin repeat domain-containing protein 54; Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation. 9606.ENSP00000215957,MICALL1,863,"MICAL-like protein 1; Probable lipid-binding protein with higher affinity for phosphatidic acid, a lipid enriched in recycling endosome membranes. On endosome membranes, may act as a downstream effector of Rab proteins recruiting cytosolic proteins to regulate membrane tubulation. May be involved in a late step of receptor-mediated endocytosis regulating for instance endocytosed-EGF receptor trafficking. Alternatively, may regulate slow endocytic recycling of endocytosed proteins back to the plasma membrane. May indirectly play a role in neurite outgrowth." 9606.ENSP00000215980,CENPM,180,"Centromere protein M; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres." 9606.ENSP00000216024,DMC1,340,"Meiotic recombination protein DMC1/LIM15 homolog; May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks." 9606.ENSP00000216027,HSCB,235,"Iron-sulfur cluster co-chaperone protein HscB, mitochondrial; Acts as a co-chaperone in iron-sulfur cluster assembly in both mitochondria and the cytoplasm. Required for incorporation of iron-sulfur clusters into SDHB, the iron- sulfur protein subunit of succinate dehydrogenase that is involved in complex II of the mitochondrial electron transport chain. Recruited to SDHB by interaction with SDHAF1 which first binds SDHB and then recruits the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20. Also mediates complex formation between components [...] " 9606.ENSP00000216034,TOMM22,142,Mitochondrial import receptor subunit TOM22 homolog; Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore. Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases (By similarity); Belongs to the Tom22 family. 9606.ENSP00000216036,RSPH14,348,Radial spoke head 14 homolog; Belongs to the flagellar radial spoke RSP14 family. 9606.ENSP00000216037,XBP1,261,"X-box-binding protein 1, cytoplasmic form; Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR). Required for cardiac myogenesis and hepatogenesis during embryonic development, and the development of secretory tissues such as exocrine pancreas and salivary gland (By similarity). Involved in terminal differentiation of B lymphocytes to plasma cells and production of immunoglobulins. Modulates the cellular response to ER stress in a PIK3R-dependent manner. Binds to the cis-acting X box present in the promoter regio [...] " 9606.ENSP00000216038,RTCB,505,"RNA-splicing ligase RtcB homolog; Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs." 9606.ENSP00000216039,JOSD1,202,"Josephin-1; Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly- ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity." 9606.ENSP00000216044,GTPBP1,669,GTP-binding protein 1; Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity). 9606.ENSP00000216068,DNAL4,105,"Dynein light chain 4, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity)." 9606.ENSP00000216071,C22orf31,290,Uncharacterized protein C22orf31; Chromosome 22 open reading frame 31. 9606.ENSP00000216075,MIOX,285,Myo-inositol oxygenase. 9606.ENSP00000216085,RHBDD3,386,Rhomboid domain containing 3. 9606.ENSP00000216099,APOBEC3D,386,"DNA dC->dU-editing enzyme APOBEC-3D; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels [...] " 9606.ENSP00000216101,RASL10A,203,Ras-like protein family member 10A; Potent inhibitor of cellular proliferation. 9606.ENSP00000216106,HMGXB4,601,HMG domain-containing protein 4; Negatively regulates Wnt/beta-catenin signaling during development. 9606.ENSP00000216115,BIK,160,"Bcl-2-interacting killer; Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX." 9606.ENSP00000216117,HMOX1,288,"Heme oxygenase 1; Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Exhibits cytoprotective effects since excess of free heme sensitizes cells to undergo apoptosis." 9606.ENSP00000216121,NIPSNAP1,284,Nipsnap homolog 1. 9606.ENSP00000216122,MCM5,734,"DNA replication licensing factor MCM5; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] " 9606.ENSP00000216124,ARSA,509,Arylsulfatase A component B; Hydrolyzes cerebroside sulfate. 9606.ENSP00000216127,RASD2,266,"GTP-binding protein Rhes; GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination; Belongs to the small GTPase superfamily. RasD family." 9606.ENSP00000216129,TTLL12,644,"Tubulin--tyrosine ligase-like protein 12; Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues. Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability. During RNA virus-mediated infection, acts as a negative regulator of the DDX58/RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE." 9606.ENSP00000216133,CBX7,251,"Chromobox protein homolog 7; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Promotes histone H3 trimethylation at 'Lys-9' (H3K9me3). Binds to trimethylated lysine residues in histones, and possibly also other proteins. Regulator of cellular [...] " 9606.ENSP00000216139,ACR,421,"Acrosin heavy chain; Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome." 9606.ENSP00000216144,CABP7,215,Calcium-binding protein 7; Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity. 9606.ENSP00000216160,TAB1,504,TGF-beta-activated kinase 1 and MAP3K7-binding protein 1; May be an important signaling intermediate between TGFB receptors and MAP3K7/TAK1. May play an important role in mammalian embryogenesis. 9606.ENSP00000216177,PNPLA5,429,Patatin-like phospholipase domain-containing protein 5; Lipid hydrolase. 9606.ENSP00000216180,PNPLA3,481,"1-acylglycerol-3-phosphate O-acyltransferase PNPLA3; Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA. Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase [...] " 9606.ENSP00000216181,MYH9,1960,"Myosin-9; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10." 9606.ENSP00000216185,TXN2,166,"Thioredoxin, mitochondrial; Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity; Belongs to the thioredoxin family." 9606.ENSP00000216190,EIF3D,548,"Eukaryotic translation initiation factor 3 subunit D; mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required f [...] " 9606.ENSP00000216200,PVALB,110,"Parvalbumin alpha; In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions; Belongs to the parvalbumin family." 9606.ENSP00000216211,UPK3A,287,Uroplakin-3a; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity). 9606.ENSP00000216214,FAM118A,357,Protein FAM118A; Family with sequence similarity 118 member A. 9606.ENSP00000216218,ST13,369,"Hsc70-interacting protein; One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity); Belongs to the FAM10 family." 9606.ENSP00000216223,IL2RB,551,"Interleukin-2 receptor subunit beta; Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15. Belongs to the type I cytokine receptor family. Type 4 subfamily." 9606.ENSP00000216225,RBX1,108,"E3 ubiquitin-protein ligase RBX1, N-terminally processed; E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets. The functional specificity of the E [...] " 9606.ENSP00000216237,L3MBTL2,705,"Lethal(3)malignant brain tumor-like protein 2; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27'." 9606.ENSP00000216241,CHADL,762,Chondroadherin-like protein; Potential negative modulator of chondrocyte differentiation. Inhibits collagen fibrillogenesis in vitro. May influence chondrocyte's differentiation by acting on its cellular collagenous microenvironment. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. 9606.ENSP00000216252,PHF5A,110,"PHD finger-like domain-containing protein 5A; Involved with the PAF1 complex (PAF1C) in transcriptional elongation by RNA polymerase II, and in regulation of development and maintenance of embryonic stem cell (ESC) pluripotency. Required for maintenance of ESCs self-renewal and cellular reprogramming of stem cells. Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes. Regulates the deposition of elongation-associated histone modifications, including dimethylated histone H3 'Lys-79' (H3K79me2) a [...] " 9606.ENSP00000216254,ACO2,780,"Aconitate hydratase, mitochondrial; Catalyzes the isomerization of citrate to isocitrate via cis- aconitate; Belongs to the aconitase/IPM isomerase family." 9606.ENSP00000216259,PMM1,262,"Phosphomannomutase 1; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. Belongs to the eukaryotic PMM family." 9606.ENSP00000216264,CERK,537,"Ceramide kinase; Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2- ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Shows a greater preference for D-erythro isomer of ceramides. Binds phosphoinositides." 9606.ENSP00000216268,ZBED4,1171,Zinc finger BED-type containing 4. 9606.ENSP00000216271,HDAC10,669,"Polyamine deacetylase HDAC10; Polyamine deacetylase (PDAC), which acts preferentially on N(8)-acetylspermidine, and also on acetylcadaverine and acetylputrescine. Exhibits attenuated catalytic activity toward N(1),N(8)-diacetylspermidine and very low activity, if any, toward N(1)-acetylspermidine. Histone deacetylase activity has been observed in vitro. Has also been shown to be involved in MSH2 deacetylation. The physiological relevance of protein/histone deacetylase activity is unclear and could be very weak. May play a role in the promotion of late stages of autophagy, possibly auto [...] " 9606.ENSP00000216274,RIPK3,518,"Receptor-interacting serine/threonine-protein kinase 3; Essential for necroptosis, a programmed cell death process in response to death-inducing TNF-alpha family members. Upon induction of necrosis, RIPK3 interacts with, and phosphorylates RIPK1 and MLKL to form a necrosis-inducing complex. RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL. These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production. Belongs to the protein kinase superfamily. TKL Ser/T [...] " 9606.ENSP00000216277,PAPOLA,745,Poly(A) polymerase alpha; Polymerase that creates the 3'-poly(A) tail of mRNA's. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C- terminus. 9606.ENSP00000216286,NID2,1375,"Nidogen-2; Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell- extracellular matrix interactions." 9606.ENSP00000216294,SNAPC1,368,"snRNA-activating protein complex subunit 1; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box." 9606.ENSP00000216297,SUPT16H,1047,"FACT complex subunit SPT16; Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment o [...] " 9606.ENSP00000216330,FKBP3,224,Peptidyl-prolyl cis-trans isomerase FKBP3; FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins. 9606.ENSP00000216336,CTSG,255,"Cathepsin G; Serine protease with trypsin- and chymotrypsin-like specificity. Cleaves complement C3. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, antibacterial activity is inhibited by LPS from P.aeruginosa, Z-Gly-Leu-Phe-CH2Cl and phenylmethylsulfonyl fluoride." 9606.ENSP00000216338,GZMH,246,Granzyme H; Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3' and P4' sites. Probably necessary for target cell lysis in cell-mediated immune responses. Participates in the antiviral response via direct cleavage of several proteins essential for viral replication. 9606.ENSP00000216341,GZMB,247,"Granzyme B; This enzyme is necessary for target cell lysis in cell- mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis; Belongs to the peptidase S1 family. Granzyme subfamily." 9606.ENSP00000216361,COCH,615,Cochlin; Plays a role in the control of cell shape and motility in the trabecular meshwork. 9606.ENSP00000216366,AP4S1,159,AP-4 complex subunit sigma-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper as [...] 9606.ENSP00000216367,POLE2,527,DNA polymerase epsilon subunit 2; Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication (By similarity). 9606.ENSP00000216373,SOS2,1332,Son of sevenless homolog 2; Promotes the exchange of Ras-bound GDP by GTP. 9606.ENSP00000216392,PYGL,847,"Glycogen phosphorylase, liver form; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties." 9606.ENSP00000216410,GNPNAT1,184,Glucosamine-phosphate N-acetyltransferase 1; Belongs to the acetyltransferase family. GNA1 subfamily. 9606.ENSP00000216416,CNIH1,144,Protein cornichon homolog 1; Involved in the selective transport and maturation of TGF- alpha family proteins; Belongs to the cornichon family. 9606.ENSP00000216420,CGRRF1,332,Cell growth regulator with RING finger domain protein 1; Able to inhibit growth in several cell lines. 9606.ENSP00000216442,ATP6V1D,247,"V-type proton ATPase subunit D; Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium." 9606.ENSP00000216446,PLEK2,353,Pleckstrin-2; May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation. 9606.ENSP00000216452,PIGH,188,"Phosphatidylinositol N-acetylglucosaminyltransferase subunit H; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis; Belongs to the PIGH family." 9606.ENSP00000216455,PSMA3,255,"Proteasome subunit alpha type-3; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000216468,TMED8,325,Protein TMED8; Transmembrane p24 trafficking protein family member 8. 9606.ENSP00000216471,SAMD15,674,Sterile alpha motif domain containing 15. 9606.ENSP00000216479,AHSA1,338,"Activator of 90 kDa heat shock protein ATPase homolog 1; Acts as a co-chaperone of HSP90AA1. Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity. Competes with the inhibitory co- chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins." 9606.ENSP00000216484,SPTLC2,562,"Serine palmitoyltransferase 2; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis (By similarity). Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000216487,RIN3,985,"Ras and Rab interactor 3; Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function; Belongs to the RIN (Ras interaction/interference) family." 9606.ENSP00000216489,ALKBH1,389,"Nucleic acid dioxygenase ALKBH1; Dioxygenase that acts as on nucleic acids, such as DNA and tRNA. Requires molecular oxygen, alpha-ketoglutarate and iron. A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts as on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment. Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs. Acts as a regulator o [...] " 9606.ENSP00000216492,CHGA,457,p-Glu serpinin precursor; [Pancreastatin]: Strongly inhibits glucose induced insulin release from the pancreas. [Serpinin]: Regulates granule biogenesis in endocrine cells by up-regulating the transcription of protease nexin 1 (SERPINE2) via a cAMP-PKA-SP1 pathway. This leads to inhibition of granule protein degradation in the Golgi complex which in turn promotes granule formation. 9606.ENSP00000216500,DHRS7,339,Dehydrogenase/reductase SDR family member 7; Dehydrogenase/reductase 7. 9606.ENSP00000216513,SIX4,781,"Homeobox protein SIX4; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5'-[CAT]A[CT][CT][CTG]GA[GAT]-3' motif present in the Trex site and a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. [...] " 9606.ENSP00000216540,SLC10A1,349,Sodium/bile acid cotransporter; The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. 9606.ENSP00000216554,EIF5,431,Eukaryotic translation initiation factor 5; Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]). 9606.ENSP00000216602,ZFYVE21,252,"Zinc finger FYVE domain-containing protein 21; Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta- 1/ITGB1 cell surface expression." 9606.ENSP00000216629,BDKRB1,353,B1 bradykinin receptor; This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation. 9606.ENSP00000216639,VRK1,396,"Serine/threonine-protein kinase VRK1; Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates 'Thr-18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain- containing proteins and causes its relocalization from the nucleus to the cytoplasm. Phosph [...] " 9606.ENSP00000216714,APEX1,318,"DNA-(apurinic or apyrimidinic site) lyase, mitochondrial; Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break w [...] " 9606.ENSP00000216727,PABPN1,306,Polyadenylate-binding protein 2; Involved in the 3'-end formation of mRNA precursors (pre- mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to syner [...] 9606.ENSP00000216733,EFS,561,"Embryonal Fyn-associated substrate; Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity)." 9606.ENSP00000216756,CINP,212,"Cyclin-dependent kinase 2-interacting protein; Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling. Belongs to the CINP family." 9606.ENSP00000216780,PCK2,640,"Phosphoenolpyruvate carboxykinase [GTP], mitochondrial; Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle; Belongs to the phosphoenolpyruvate carboxykinase [GTP] family." 9606.ENSP00000216797,NFKBIA,317,"NF-kappa-B inhibitor alpha; Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription." 9606.ENSP00000216802,PSME2,239,Proteasome activator complex subunit 2; Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. 9606.ENSP00000216807,BRMS1L,323,"Breast cancer metastasis-suppressor 1-like protein; Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth." 9606.ENSP00000216832,PNN,717,Pinin; Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation [...] 9606.ENSP00000216862,CYP24A1,514,"1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid. With initial hydroxylation at C-23 (via C23-oxidati [...] " 9606.ENSP00000216911,AURKA,403,"Aurora kinase A; Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for normal spindle positioning during mitosis and for the localization of NUMA1 and DCTN1 to the cell cortex during metaphase. Required for initial activation [...] " 9606.ENSP00000216923,ZFP64,681,Zinc finger protein 64; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000216962,PYGB,843,"Glycogen phosphorylase, brain form; Glycogen phosphorylase that regulates glycogen mobilization. Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties." 9606.ENSP00000216968,PROCR,238,Endothelial protein C receptor; Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation. 9606.ENSP00000217026,MYBL2,700,"Myb-related protein B; Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene." 9606.ENSP00000217043,R3HDML,253,Peptidase inhibitor R3HDML; Putative serine protease inhibitor; Belongs to the CRISP family. 9606.ENSP00000217086,SALL4,1053,Sal-like protein 4; Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. 9606.ENSP00000217109,CSTF1,431,Cleavage stimulation factor subunit 1; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA. 9606.ENSP00000217121,TPD52L2,229,Tumor protein D54; TPD52 like 2. 9606.ENSP00000217131,CTSZ,303,Cathepsin Z; Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity. Capable of producing kinin potentiating peptides (By similarity); Belongs to the peptidase C1 family. 9606.ENSP00000217133,TUBB1,451,"Tubulin beta-1 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Belongs to the tubulin family." 9606.ENSP00000217159,SLCO4A1,722,"Solute carrier organic anion transporter family member 4A1; Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate; Belongs to the organo anion transporter (TC 2.A.60) family." 9606.ENSP00000217169,BIRC7,298,"Baculoviral IAP repeat-containing protein 7 30kDa subunit; Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibit [...] " 9606.ENSP00000217173,UBOX5,541,RING finger protein 37; May have a ubiquitin-protein ligase activity acting as an E3 ubiquitin-protein ligase or as a ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. 9606.ENSP00000217182,EEF1A2,463,Elongation factor 1-alpha 2; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily. 9606.ENSP00000217188,SRMS,488,Tyrosine-protein kinase Srms; Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues. Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues. Phosphorylation of KHDRBS1 is EGF-dependent. 9606.ENSP00000217195,C20orf27,199,UPF0687 protein C20orf27; Chromosome 20 open reading frame 27. 9606.ENSP00000217244,CSNK2A1,391,"Casein kinase II subunit alpha; Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoin [...] " 9606.ENSP00000217246,MACROD2,425,"ADP-ribose glycohydrolase MACROD2; Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins." 9606.ENSP00000217260,RSPO4,234,"R-spondin-4; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin- dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway." 9606.ENSP00000217270,PROKR2,384,"Prokineticin receptor 2; Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase." 9606.ENSP00000217289,FERMT1,677,"Fermitin family homolog 1; Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. Belongs to the kindlin family." 9606.ENSP00000217320,TLDC2,215,TLD domain-containing protein 2; TBC/LysM-associated domain containing 2; Belongs to the OXR1 family. 9606.ENSP00000217372,CDK5RAP1,587,CDK5 regulatory subunit-associated protein 1; Specifically inhibits CDK5 activation by CDK5R1; Belongs to the methylthiotransferase family. MiaB subfamily. 9606.ENSP00000217381,SNTA1,505,"Alpha-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity)." 9606.ENSP00000217386,OXT,125,Oxytocin-neurophysin 1; Neurophysin 1 specifically binds oxytocin. 9606.ENSP00000217402,CHMP4B,224,"Charged multivesicular body protein 4b; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] " 9606.ENSP00000217407,LBP,481,"Lipopolysaccharide-binding protein; Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria. Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide." 9606.ENSP00000217420,SLC32A1,525,Vesicular inhibitory amino acid transporter; Involved in the uptake of GABA and glycine into the synaptic vesicles. 9606.ENSP00000217423,CST4,141,"Cystatin-S; This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non- competitively." 9606.ENSP00000217426,AHCY,432,Adenosylhomocysteinase; Adenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine. 9606.ENSP00000217428,SPINT3,89,"Serine peptidase inhibitor, Kunitz type 3." 9606.ENSP00000217446,PIGU,435,Phosphatidylinositol glycan anchor biosynthesis class U protein; Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI. 9606.ENSP00000217455,ACOT8,319,"Acyl-coenzyme A thioesterase 8; Acyl-coenzyme A (acyl-CoA) thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Acyl-coenzyme A thioesterase 8/ACOT8 display no strong substrate specificity with respect to the carboxylic acid moiety of Acyl-CoAs (By similarity). Hydrolyzes medium length (C2 to C20) straight-chain, saturated and unsaturated acyl-CoAS but is inactive towards substrates with longer aliphatic chains. More [...] " 9606.ENSP00000217456,APMAP,416,Adipocyte plasma membrane-associated protein; Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation; Belongs to the strictosidine synthase family. 9606.ENSP00000217515,TXNL1,289,Thioredoxin-like protein 1; Active thioredoxin with a redox potential of about -250 mV. 9606.ENSP00000217740,RNF125,232,"E3 ubiquitin-protein ligase RNF125; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as DDX58/RIG-I, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53. Acts as a negative regulator of type I interferon production by mediating ubiquitination of DDX58/RIG-I at 'Lys-181', leading to DDX58/RIG-I degradation. Mediates ubiquitination and subsequent degradation of p53/TP53. Mediates ubiquitination and subsequent degradation of JAK1. Acts as a positive regulator of T-cell activation." 9606.ENSP00000217901,IDH3G,393,"Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial; Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers." 9606.ENSP00000217909,SLC25A43,341,Solute carrier family 25 member 43; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000217939,MXRA5,2828,"Matrix-remodeling-associated protein 5; In kidney, has anti-inflammatory and anti-fibrotic properties by limiting the induction of chemokines, fibronectin and collagen expression in response to TGB1 and pro-inflammatory stimuli." 9606.ENSP00000217958,PSMD10,226,"26S proteasome non-ATPase regulatory subunit 10; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD10:PSMC4:PSMC5:PAAF1 module which probably assembles with a PSMD5:PSMC2:PSMC1:PSMD2 module. Independently of the proteasome, regulates EGF-induced AKT activation through inhibition of the RHOA/ROCK/PTEN pathway, leading to prolonged AKT activation. Plays an important role in RAS-induced tumorigenesis." 9606.ENSP00000217961,STS,583,"Steryl-sulfatase; Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid." 9606.ENSP00000217971,PGRMC1,195,"Membrane-associated progesterone receptor component 1; Component of a progesterone-binding protein complex. Binds progesterone. Has many reported cellular functions (heme homeostasis, interaction with CYPs). Belongs to the cytochrome b5 family. MAPR subfamily." 9606.ENSP00000217999,RHOXF1,184,Rhox homeobox family member 1; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis. 9606.ENSP00000218004,NXT2,197,NTF2-related export protein 2; Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export. 9606.ENSP00000218006,GUCY2F,1108,"Retinal guanylyl cyclase 2; Responsible for the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (By similarity). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family." 9606.ENSP00000218008,ATP1B4,357,"Protein ATP1B4; May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit; Belongs to the X(+)/potassium ATPases subunit beta family." 9606.ENSP00000218068,PAGE4,102,P antigen family member 4; Intrinsically disordered protein that potentiates the transcriptional activator activity of JUN. Protects cells from stress-induced apoptosis by inhibiting reactive oxygen species (ROS) production and via regulation of the MAPK signaling pathway. 9606.ENSP00000218075,GLRA2,452,Glycine receptor subunit alpha-2; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Plays a role in cellular responses to ethanol. 9606.ENSP00000218089,STAG2,1268,"Cohesin subunit SA-2; Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis." 9606.ENSP00000218099,F9,461,"Coagulation factor IXa heavy chain; Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. Belongs to the peptidase S1 family." 9606.ENSP00000218104,ABCD1,745,"ATP-binding cassette sub-family D member 1; Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis. Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation. Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid [...] " 9606.ENSP00000218176,KCND1,647,Potassium voltage-gated channel subfamily D member 1; Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits; Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily. 9606.ENSP00000218230,PCSK1N,260,"Big PEN-LEN; May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular [...] " 9606.ENSP00000218249,RAB40AL,278,Ras-related protein Rab-40A-like; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000218316,GPR50,617,Melatonin-related receptor; Does not bind melatonin. 9606.ENSP00000218340,RP2,350,"Protein XRP2; Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. Belongs to the TBCC family." 9606.ENSP00000218348,USP11,963,"Ubiquitin carboxyl-terminal hydrolase 11; Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Cleaves preferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Has lower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains, and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'-linked ubiquitin chains (in vitro). Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA breaks [...] " 9606.ENSP00000218388,TIMP1,207,"Metalloproteinase inhibitor 1; Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it [...] " 9606.ENSP00000218436,ITIH6,1313,Inter-alpha-trypsin inhibitor heavy chain family member 6. 9606.ENSP00000218516,GLA,429,Galactosidase alpha; Belongs to the glycosyl hydrolase 27 family. 9606.ENSP00000218548,ATP12A,1045,Potassium-transporting ATPase alpha chain 2; Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. 9606.ENSP00000218721,MLNR,412,Motilin receptor; Receptor for motilin; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000218758,ACP5,325,"Tartrate-resistant acid phosphatase type 5; Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T- cell leukemias; Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family." 9606.ENSP00000218867,SGCG,291,"Gamma-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix." 9606.ENSP00000219022,OLFM4,510,"Olfactomedin-4; May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin." 9606.ENSP00000219066,NTHL1,312,"Endonuclease III-like protein 1; Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8- dihydroguanine (8-oxoG) DNA gly [...] " 9606.ENSP00000219069,ZNF263,683,Zinc finger protein 263; Might play an important role in basic cellular processes as a transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000219070,MMP2,660,"72 kDa type IV collagenase; Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta- type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3 [...] " 9606.ENSP00000219097,ORC6,252,"Origin recognition complex subunit 6; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3." 9606.ENSP00000219139,C16orf70,422,UPF0183 protein C16orf70; Chromosome 16 open reading frame 70; Belongs to the UPF0183 family. 9606.ENSP00000219150,CORO1A,461,"Coronin-1A; May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria-infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes; Belongs to the WD repeat coronin family." 9606.ENSP00000219162,MT4,62,Metallothionein-4; Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia. 9606.ENSP00000219169,NUTF2,127,"Nuclear transport factor 2; Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import." 9606.ENSP00000219197,CBLN1,193,"[des-Ser1]-cerebellin; Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the matching and maintenance of pre- and post-synaptic elements at parallel fiber- Purkinje cell synapses, the establishment of the proper pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post- synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part [...] " 9606.ENSP00000219204,ARL2BP,163,"ADP-ribosylation factor-like protein 2-binding protein; Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2." 9606.ENSP00000219207,PLLP,182,"Plasmolipin; Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity); Belongs to the MAL family." 9606.ENSP00000219235,CCL22,93,"C-C motif chemokine 22; May play a role in the trafficking of activated/effector T- lymphocytes to inflammatory sites and other aspects of activated T- lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T- lymphocytes and a potent chemoattractant for chronically activated T- lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active; Belongs to the intercrine beta (chemokine [...] " 9606.ENSP00000219240,DHODH,395,"Dihydroorotate dehydrogenase (quinone), mitochondrial; Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor." 9606.ENSP00000219244,CCL17,94,C-C motif chemokine 17; Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4. 9606.ENSP00000219252,POLR2C,275,DNA-directed RNA polymerase II subunit RPB3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity). 9606.ENSP00000219255,PARD6A,346,"Partitioning defective 6 homolog alpha; Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization ; Belongs to the PAR6 family." 9606.ENSP00000219271,MMP15,669,Matrix metalloproteinase-15; Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A. Belongs to the peptidase M10A family. 9606.ENSP00000219281,USB1,265,"U6 snRNA phosphodiesterase; Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate; Belongs to the 2H phosphoesterase superfamily. USB1 family." 9606.ENSP00000219299,CCDC113,377,Coiled-coil domain-containing protein 113; Component of centriolar satellites contributing to primary cilium formation. 9606.ENSP00000219301,PRSS54,395,Serine protease 54. 9606.ENSP00000219302,NME3,169,"Nucleoside diphosphate kinase 3; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis; Belongs to the NDK family." 9606.ENSP00000219313,PSMD7,324,"26S proteasome non-ATPase regulatory subunit 7; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the peptidase M67A family." 9606.ENSP00000219315,SETD6,473,"N-lysine methyltransferase SETD6; Protein-lysine N-methyltransferase. Monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF- kappa-B transcription factor activity. Monomethylates 'Lys-8' of H2AZ (H2AZK8me1). Required for the maintenance of embryonic stem cell self-renewal (By similarity). Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily." 9606.ENSP00000219334,SMPD3,655,"Sphingomyelin phosphodiesterase 3; Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization; Belongs to the neutral sphingomyelinase family." 9606.ENSP00000219345,PLA2G15,412,"Group XV phospholipase A2; Has transacylase and calcium-independent phospholipase A2 activity. Catalyzes the formation of 1-O-acyl-N-acetylsphingosine and the concomitant release of a lyso- phospholipid. Has high activity with 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC) and 1,2- dioleoyl-sn-glycero-3-phosphocholine (DOPC), catalyzing the transfer of oleic acid to N-acetyl-sphingosine. Required for normal phospholipid degradation in alveolar and peritoneal macrophages and in spleen (By similarity). May have weak lysophospholipase activity." 9606.ENSP00000219368,FA2H,372,"Fatty acid 2-hydroxylase; Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis. FA2H is stereospecific for the production of (R)-2- hydroxy fatty acids. Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis of sphingolipids and glycosphingolipids involved in the formation of epidermal lamellar bodies critical for skin permeability barrier. Participates in th [...] " 9606.ENSP00000219400,CMC2,79,COX assembly mitochondrial protein 2 homolog; May be involved in cytochrome c oxidase biogenesis. Belongs to the CMC family. 9606.ENSP00000219406,PDIA2,525,Protein disulfide-isomerase A2; Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins. 9606.ENSP00000219409,ARHGDIG,225,"Rho GDP-dissociation inhibitor 3; Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post-translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP." 9606.ENSP00000219431,MPG,298,"DNA-3-methyladenine glycosylase; Hydrolysis of the deoxyribose N-glycosidic bond to excise 3- methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions." 9606.ENSP00000219439,HSDL1,330,Inactive hydroxysteroid dehydrogenase-like protein 1; Hydroxysteroid dehydrogenase like 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. 9606.ENSP00000219476,TSC2,1807,"Tuberin; In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity)." 9606.ENSP00000219478,ZNF500,480,Zinc finger protein 500; May be involved in transcriptional regulation. 9606.ENSP00000219479,NME4,187,"Nucleoside diphosphate kinase, mitochondrial; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Through the catalyzed exchange of gamma-phosphate between di- and triphosphonucleosides participates in regulation of intracellular nucleotide homeostasis. Binds to anionic phospholipids, predominantly to cardiolipin; the binding inhibits its phosphotransfer activity. Acts as mitochondria-specific NDK; its association with cardioli [...] " 9606.ENSP00000219481,DECR2,292,"Peroxisomal 2,4-dienoyl-CoA reductase; Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19-docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid." 9606.ENSP00000219548,STUB1,303,"E3 ubiquitin-protein ligase CHIP; E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Me [...] " 9606.ENSP00000219551,RHBDL1,438,Rhomboid-related protein 1; May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. 9606.ENSP00000219596,MEFV,781,"Pyrin; Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation. However, it [...] " 9606.ENSP00000219599,CRYM,314,Ketimine reductase mu-crystallin; Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors. 9606.ENSP00000219611,CAPN15,1086,Calpain-15; Calpain 15; Belongs to the peptidase C2 family. 9606.ENSP00000219660,AQP8,261,Aquaporin-8; Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea; Belongs to the MIP/aquaporin (TC 1.A.8) family. 9606.ENSP00000219689,USP31,1352,Ubiquitin carboxyl-terminal hydrolase 31; May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). Belongs to the peptidase C19 family. 9606.ENSP00000219746,TOX3,576,TOX high mobility group box family member 3; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen- responsive C3 promoter region. 9606.ENSP00000219782,MAZ,493,"Myc-associated zinc finger protein; May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Regulates inflammation-induced expression of serum amyloid A proteins." 9606.ENSP00000219789,CDIPT,213,"CDP-diacylglycerol--inositol 3-phosphatidyltransferase; Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme." 9606.ENSP00000219833,SLC6A2,628,Sodium-dependent noradrenaline transporter; Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily. 9606.ENSP00000219837,KNOP1,458,Lysine rich nucleolar protein 1. 9606.ENSP00000219905,MGA,3065,"MAX gene-associated protein; Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'- AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corep [...] " 9606.ENSP00000219919,AQP9,295,"Aquaporin-9; Forms a water channel with a broad specificity. Also permeable glycerol and urea. Mediates passage of a wide variety of small, non-charged solutes including carbamides, polyols, purines, and pyrimidines; Belongs to the MIP/aquaporin (TC 1.A.8) family." 9606.ENSP00000220003,CSK,450,"Tyrosine-protein kinase CSK; Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C- terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins [...] " 9606.ENSP00000220058,MTFMT,389,"Methionyl-tRNA formyltransferase, mitochondrial; Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity)." 9606.ENSP00000220062,RASL12,266,Ras-like protein family member 12; RAS like family 12. 9606.ENSP00000220166,CTSH,335,Cathepsin H heavy chain; Important for the overall degradation of proteins in lysosomes; Belongs to the peptidase C1 family. 9606.ENSP00000220325,EHD4,541,EH domain-containing protein 4; ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport. 9606.ENSP00000220420,TGM5,720,Protein-glutamine gamma-glutamyltransferase 5; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes; Belongs to the transglutaminase superfamily. Transglutaminase family. 9606.ENSP00000220429,GABPB1,395,GA-binding protein subunit beta-1; Transcription factor capable of interacting with purine rich repeats (GA repeats). Acts as a a master regulator of nuclear-encoded mitochondrial genes (By similarity). 9606.ENSP00000220478,SCG3,468,"Secretogranin-3; Member of the granin protein family that regulates the biogenesis of secretory granules. Acts as a sorting receptor for intragranular proteins including chromogranin A/CHGA (By similarity). May also play a role in angiogenesis. Promotes endothelial proliferation, migration and tube formation through MEK/ERK signaling pathway." 9606.ENSP00000220496,DNAJC17,304,DnaJ homolog subfamily C member 17; May negatively affect PAX8-induced thyroglobulin/TG transcription. 9606.ENSP00000220507,RHOV,236,Rho-related GTP-binding protein RhoV; Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway; Belongs to the small GTPase superfamily. Rho family. 9606.ENSP00000220509,VPS18,973,"Vacuolar protein sorting-associated protein 18 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] " 9606.ENSP00000220514,OIP5,229,Protein Mis18-beta; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis; Belongs to the mis18 family. 9606.ENSP00000220562,EXTL3,919,"Exostosin-like 3; Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation." 9606.ENSP00000220592,AGO2,859,Protein argonaute-2; Required for RNA-mediated gene silencing (RNAi) by the RNA- induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the [...] 9606.ENSP00000220597,PAG1,432,"Phosphoprotein associated with glycosphingolipid-enriched microdomains 1; Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling." 9606.ENSP00000220616,TG,2768,"Thyroglobulin; Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (By similarity). Following TG re- internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (By similarity)." 9606.ENSP00000220659,BRF2,419,Transcription factor IIIB 50 kDa subunit; General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites. Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress. Down-regulates expression of target genes in response to oxidative stress. Overexpression protects cells against apoptosis in response to oxidative stress. Belongs to the TFIIB family. 9606.ENSP00000220669,ZFAND1,268,AN1-type zinc finger protein 1; Plays a role in the regulation of cytoplasmic stress granules (SGs) turnover. SGs are dynamic and transient cytoplasmic ribonucleoprotein assemblies important for cellular protein homeostasis when protein production is suspended after acute exogenous stress. Associates with SGs and is involved in the efficient and specific arsenite-induced clearance process of SGs through the recruitment of the ubiquitin-selective ATPase VCP and the 26S proteasome. This process requires both complexes for efficient degradation of damaged ubiquitinated SG proteins during [...] 9606.ENSP00000220676,RP1,2156,"Oxygen-regulated protein 1; Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity)." 9606.ENSP00000220751,RIPK2,540,"Receptor-interacting serine/threonine-protein kinase 2; Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains. Contributes to the tyrosine phosphorylation of the guanine exchange factor ARHGEF2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Once recruited, RIPK2 autophosphorylates and undergoes 'Lys-63'-linked polyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3 [...] " 9606.ENSP00000220763,CPQ,472,Carboxypeptidase Q; Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor. 9606.ENSP00000220764,DECR1,335,"2,4-dienoyl-CoA reductase, mitochondrial; Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA." 9606.ENSP00000220772,SFRP1,314,"Secreted frizzled-related protein 1; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metane [...] " 9606.ENSP00000220809,PLAT,562,"Tissue-type plasminogen activator chain A; Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration; Belongs to the peptidase S1 family." 9606.ENSP00000220812,DKK4,224,"Dickkopf-related protein 4 short form; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity)." 9606.ENSP00000220822,GDAP1,358,Ganglioside-induced differentiation-associated protein 1; Regulates the mitochondrial network by promoting mitochondrial fission; Belongs to the GST superfamily. 9606.ENSP00000220849,EIF3E,445,"Eukaryotic translation initiation factor 3 subunit E; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000220853,EMC2,297,ER membrane protein complex subunit 2. 9606.ENSP00000220913,CHRAC1,131,"Chromatin accessibility complex protein 1; Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1." 9606.ENSP00000220940,GML,158,Glycosyl-phosphatidylinositol-anchored molecule-like protein; May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage. 9606.ENSP00000220966,PYCR3,286,"Pyrroline-5-carboxylate reductase 3; Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline." 9606.ENSP00000221086,MTMR9,549,"Myotubularin-related protein 9; Acts as an adapter for myotubularin-related phosphatases. Increases lipid phosphatase MTMR6 catalytic activity, specifically towards phosphatidylinositol 3,5- bisphosphate and MTMR6 binding affinity for phosphorylated phosphatidylinositols. Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3- phosphate. The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels. Stabilizes MTMR8 protein levels. Plays a role in the late stages of ma [...] " 9606.ENSP00000221114,DCTN6,190,Dynactin subunit 6; Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily. 9606.ENSP00000221130,GSR,522,"Glutathione reductase, mitochondrial; Maintains high levels of reduced glutathione in the cytosol." 9606.ENSP00000221132,TNFRSF10A,468,Tumor necrosis factor receptor superfamily member 10A; Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. 9606.ENSP00000221138,PPP2CB,309,"Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform; PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Belongs to the PPP phosphatase family. PP-1 subfamily." 9606.ENSP00000221166,NEFM,916,"Neurofilament medium polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber." 9606.ENSP00000221200,KCTD9,389,"BTB/POZ domain-containing protein KCTD9; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome." 9606.ENSP00000221233,EXOSC5,235,"Exosome complex component RRP46; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] " 9606.ENSP00000221265,PAF1,531,"RNA polymerase II-associated factor 1 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] " 9606.ENSP00000221307,CYP4F3,520,"Cytochrome P450 4F3; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). May play a role in inactivation of proinflammatory and anti-inflammatory oxylipins during the resolution of inflammation. [Isoform CYP4F3B]: Catalyzes predominantly the oxi [...] " 9606.ENSP00000221315,ZNF432,652,Zinc finger protein 432; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000221327,ZNF180,692,Zinc finger protein 180; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000221399,TULP2,520,TUB like protein 2; Belongs to the TUB family. 9606.ENSP00000221403,DHDH,334,Dihydrodiol dehydrogenase; Belongs to the Gfo/Idh/MocA family. 9606.ENSP00000221418,ECH1,328,"Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA." 9606.ENSP00000221419,HNRNPL,589,"Heterogeneous nuclear ribonucleoprotein L; Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of exon inclusion. Exhibits a binding preference for CA-rich elements. Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter." 9606.ENSP00000221444,KCNA7,456,"Potassium voltage-gated channel subfamily A member 7; Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity). Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily." 9606.ENSP00000221452,RELB,579,"Transcription factor RelB; NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishab [...] " 9606.ENSP00000221455,CLASRP,674,CLK4-associating serine/arginine rich protein; Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity). 9606.ENSP00000221459,LIN7B,207,"Protein lin-7 homolog B; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] " 9606.ENSP00000221462,PPP1R37,691,Protein phosphatase 1 regulatory subunit 37; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. 9606.ENSP00000221476,CKM,381,"Creatine kinase M-type; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa." 9606.ENSP00000221480,PEX11G,241,Peroxisomal membrane protein 11C; Promotes membrane protrusion and elongation on the peroxisomal surface; Belongs to the peroxin-11 family. 9606.ENSP00000221485,SLC17A7,560,Vesicular glutamate transporter 1; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. 9606.ENSP00000221486,RNASEH2A,299,"Ribonuclease H2 subunit A; Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. Belongs to the RNase HII family. Eukaryotic subfamily." 9606.ENSP00000221494,SF3A2,464,"Splicing factor 3A subunit 2; Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex. Involved in pre-mRNA splicing as a component of pre- catalytic spliceosome 'B' complexes, including the Bact complex. Interacts directly with the duplex formed by U2 snRNA and the intron. Belongs to the SF3A2 family." 9606.ENSP00000221496,AMH,560,"Muellerian-inhibiting factor; This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin." 9606.ENSP00000221498,DKKL1,242,"Dickkopf-like protein 1; Involved in fertilization by facilitating sperm penetration of the zona pellucida. May promote spermatocyte apoptosis, thereby limiting sperm production. In adults, may reduces testosterone synthesis in Leydig cells. Is not essential either for development or fertility." 9606.ENSP00000221515,RETN,108,Resistin; Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells (By similarity). Potentially links obesity to diabetes (By similarity). Promotes chemotaxis in myeloid cells. 9606.ENSP00000221538,RSPH6A,717,Radial spoke head 6 homolog A; Belongs to the flagellar radial spoke RSP4/6 family. 9606.ENSP00000221543,TBC1D17,648,"TBC1 domain family member 17; Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS- 50; the function requires its catalytic activity, however, the involved Rab is not known." 9606.ENSP00000221561,TLE5,264,TLE family member 5; Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development. Belongs to the WD repeat Groucho/TLE family. 9606.ENSP00000221566,SGTA,313,"Small glutamine-rich tetratricopeptide repeat-containing protein alpha; Co-chaperone that binds misfolded and hydrophobic patches- containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails. Functions in tail- anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module. Functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins. It is also involved i [...] " 9606.ENSP00000221573,SNAPC2,334,"snRNA-activating protein complex subunit 2; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box." 9606.ENSP00000221665,FIZ1,496,Flt3-interacting zinc finger protein 1; May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity). 9606.ENSP00000221671,C19orf44,657,Uncharacterized protein C19orf44; Chromosome 19 open reading frame 44. 9606.ENSP00000221700,CYP4F2,520,"Cytochrome P450 4F2; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, eicosanoids and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of long- and very long-chain fatty acids. Displays high omega-hydroxylase activity toward polyunsaturated fatty [...] " 9606.ENSP00000221730,EPHX3,360,"Epoxide hydrolase 3; Catalyzes the hydrolysis of epoxide-containing fatty acids. Active in vitro against epoxyeicosatrienoic acids (EETs) including 8,9- EET, 9,10-EET, 11,12-EET and 14,15-EET and leukotoxin." 9606.ENSP00000221742,SLC1A6,564,"Excitatory amino acid transporter 4; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (By similarity). Plays a redundant role in the rapid removal of released glutamate from the synapt [...] " 9606.ENSP00000221797,LGALS13,139,Galactoside-binding soluble lectin 13; Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis. Has hemagglutinating activity towards chicken erythrocytes. 9606.ENSP00000221801,FBL,321,rRNA 2'-O-methyltransferase fibrillarin; S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre- ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate (By similarity). Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA (By similarity). Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histon [...] 9606.ENSP00000221804,CLC,142,Galectin-10; Regulates immune responses through the recognition of cell- surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg). 9606.ENSP00000221847,EBI3,229,"Interleukin-27 subunit beta; Associates with IL27 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal exp [...] " 9606.ENSP00000221855,TBCB,244,Tubulin-folding cofactor B; Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer. Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity). Belongs to the TBCB family. 9606.ENSP00000221856,FSD1,496,Fibronectin type III and SPRY domain-containing protein 1; May be involved in microtubule organization and stabilization. 9606.ENSP00000221859,POLR2I,125,DNA-directed RNA polymerase II subunit RPB9; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity). 9606.ENSP00000221891,APLP1,651,"Amyloid-like protein 1; May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I; Belongs to the APP family." 9606.ENSP00000221922,CCDC9,531,Coiled-coil domain containing 9. 9606.ENSP00000221930,TGFB1,390,"Transforming growth factor beta-1 proprotein; Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form fo [...] " 9606.ENSP00000221954,CEACAM4,244,Carcinoembryonic antigen-related cell adhesion molecule 4; Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles. 9606.ENSP00000221957,PLIN3,434,Perilipin-3; Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network. 9606.ENSP00000221972,CD79A,226,"B-cell antigen receptor complex-associated protein alpha chain; Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B- cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts wit [...] " 9606.ENSP00000221973,LIM2,215,"Lens fiber membrane intrinsic protein; Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis; Belongs to the PMP-22/EMP/MP20 family." 9606.ENSP00000221978,NKG7,165,Protein NKG7; Natural killer cell granule protein 7; Belongs to the PMP-22/EMP/MP20 family. 9606.ENSP00000221980,ICAM5,924,Intercellular adhesion molecule 5; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). 9606.ENSP00000221992,CEACAM5,702,"Carcinoembryonic antigen-related cell adhesion molecule 5; Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression. Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6. Plays a role as an oncogene by promoting tumor progression; induces resistance to anoikis of colorectal carcinoma cells. Belongs to the immunoglobulin superfamily. CEA family." 9606.ENSP00000221996,CRX,299,"Cone-rod homeobox protein; Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. Belongs to the paired homeobox family." 9606.ENSP00000222002,SULT2A1,285,Bile salt sulfotransferase; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. 9606.ENSP00000222005,CDC37,378,"Hsp90 co-chaperone Cdc37, N-terminally processed; Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity. Inhibits HSP90AA1 ATPase activity." 9606.ENSP00000222008,RABAC1,185,Prenylated Rab acceptor protein 1; General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI. Belongs to the PRA1 family. 9606.ENSP00000222032,CNFN,112,Cornifelin; Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia; Belongs to the cornifelin family. 9606.ENSP00000222033,ZNRF4,429,E3 ubiquitin-protein ligase ZNRF4; E3 ubiquitin-protein ligase which specifically induces ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum. Could have a role in spermatogenesis (By similarity). 9606.ENSP00000222115,HAS1,578,"Hyaluronan synthase 1; Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate (By similarity). Belongs to the NodC/HAS family." 9606.ENSP00000222120,RAB3D,219,Ras-related protein Rab-3D; Protein transport. Probably involved in regulated exocytosis (By similarity); Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000222122,DBP,325,"D site-binding protein; This transcriptional activator recognizes and binds to the sequence 5'-RTTAYGTAAY-3' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation; Belongs to the bZIP family. PAR subfamily." 9606.ENSP00000222139,EPOR,508,"Erythropoietin receptor; Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase." 9606.ENSP00000222145,RASIP1,963,"Ras-interacting protein 1; Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras- like proteins. May promote HR [...] " 9606.ENSP00000222219,DNASE2,360,"Deoxyribonuclease-2-alpha; Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells; Belongs to the DNase II family." 9606.ENSP00000222224,LENG1,264,Leukocyte receptor cluster member 1. 9606.ENSP00000222247,RPL18A,176,Ribosomal protein L18a; Belongs to the eukaryotic ribosomal protein eL20 family. 9606.ENSP00000222248,SLC5A5,643,Sodium/iodide cotransporter; Mediates iodide uptake in the thyroid gland; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. 9606.ENSP00000222250,ARRDC2,407,Arrestin domain containing 2; Belongs to the arrestin family. 9606.ENSP00000222254,PIK3R2,728,"Phosphatidylinositol 3-kinase regulatory subunit beta; Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5- bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein- tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating t [...] " 9606.ENSP00000222256,RAB3A,220,"Ras-related protein Rab-3A; Small GTP-binding protein that plays a central role in regulated exocytosis and secretion. Controls the recruitment, tethering and docking of secretory vesicles to the plasma membrane (By similarity). Upon stimulation, switches to its active GTP-bound form, cycles to vesicles and recruits effectors such as RIMS1, RIMS2, Rabphilin-3A/RPH3A, RPH3AL or SYTL4 to help the docking of vesicules onto the plasma membrane (By similarity). Upon GTP hydrolysis by GTPase-activating protein, dissociates from the vesicle membrane allowing the exocytosis to proceed (By simi [...] " 9606.ENSP00000222271,COMP,757,Cartilage oligomeric matrix protein; May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BI [...] 9606.ENSP00000222284,TMEM147,224,"Transmembrane protein 147; Acts as a negative regulator of CHRM3 function, most likely by interfering with its trafficking to the cell membrane. Negatively regulates CHRM3-mediated calcium mobilization and activation of RPS6KA1/p90RSK activity." 9606.ENSP00000222286,GAPDHS,408,"Glyceraldehyde-3-phosphate dehydrogenase, testis-specific; May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity)." 9606.ENSP00000222305,USF2,346,Upstream stimulatory factor 2; Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. 9606.ENSP00000222329,ERF,548,"ETS domain-containing transcription factor ERF; Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity)." 9606.ENSP00000222330,GSK3A,483,"Glycogen synthase kinase-3 alpha; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle (B [...] " 9606.ENSP00000222339,ZNF574,986,Zinc finger protein 574; May be involved in transcriptional regulation. 9606.ENSP00000222345,SIPA1L3,1781,"Signal-induced proliferation-associated 1-like protein 3; Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens." 9606.ENSP00000222374,CADM4,388,Cell adhesion molecule 4; Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor- suppressor activity. 9606.ENSP00000222381,PON1,355,"Serum paraoxonase/arylesterase 1; Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation; Belongs to the paraoxonase family." 9606.ENSP00000222382,CYP3A43,504,Cytochrome P450 3A43; Exhibits low testosterone 6-beta-hydroxylase activity; Belongs to the cytochrome P450 family. 9606.ENSP00000222388,ABCF2,634,ATP binding cassette subfamily F member 2. 9606.ENSP00000222390,HGF,728,"Hepatocyte growth factor alpha chain; Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization. Belongs to the peptidase S1 family. Plasminogen subfamily." 9606.ENSP00000222399,LAMB1,1786,"Laminin subunit beta-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical dev [...] " 9606.ENSP00000222402,UBE2D4,147,"Ubiquitin-conjugating enzyme E2 D4; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and 'Lys-48'-linked polyubiquitination. Belongs to the ubiquitin-conjugating enzyme family." 9606.ENSP00000222462,WNT16,365,Protein Wnt-16; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). 9606.ENSP00000222481,CPA2,419,Carboxypeptidase A2. 9606.ENSP00000222482,CPA4,421,"Carboxypeptidase A4; Metalloprotease that could be involved in the histone hyperacetylation pathway. Releases a C-terminal amino acid, with preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val ; Belongs to the peptidase M14 family." 9606.ENSP00000222511,GTPBP10,387,"GTP-binding protein 10; May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nucleolar architecture is observed; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family." 9606.ENSP00000222543,TFPI2,235,"Tissue factor pathway inhibitor 2; May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin." 9606.ENSP00000222547,BET1,118,BET1 homolog; Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER- derived vesicles with the cis-Golgi membrane (By similarity). 9606.ENSP00000222553,NAMPT,491,"Nicotinamide phosphoribosyltransferase; Catalyzes the condensation of nicotinamide with 5- phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock fun [...] " 9606.ENSP00000222567,TWISTNB,338,DNA-directed RNA polymerase I subunit RPA43; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters; Belongs to the eukaryotic RPA43 RNA polymerase subunit family. 9606.ENSP00000222573,ITGB8,769,"Integrin beta-8; Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin. It recognizes the sequence R-G-D in its ligands. Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity)." 9606.ENSP00000222574,HBP1,514,HMG box-containing protein 1; Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'- TTCATTCATTCA-3'. Binding to the histone H1.0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4. 9606.ENSP00000222584,SP4,784,Transcription factor Sp4; Binds to GT and GC boxes promoters elements. Probable transcriptional activator. 9606.ENSP00000222644,MPP6,540,MAGUK p55 subfamily member 6; Membrane palmitoylated protein 6; Belongs to the MAGUK family. 9606.ENSP00000222674,NPVF,196,"Pro-FMRFamide-related neuropeptide VF; Neuropeptide RFRP-1 acts as a potent negative regulator of gonadotropin synthesis and secretion. Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide RFRP-1 induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine-induced analgesia. Belongs to the FARP (FMRFamide related peptide) family." 9606.ENSP00000222693,CAV2,162,"Caveolin-2; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (B [...] " 9606.ENSP00000222718,HOXA2,376,Homeobox protein Hox-A2; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. Proboscipedia subfamily. 9606.ENSP00000222725,LFNG,379,"Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O- fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1. Essential mediator of somite segmentation and patterning (By similarity)." 9606.ENSP00000222726,HOXA5,270,Homeobox protein Hox-A5; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'. 9606.ENSP00000222728,HOXA6,233,Homeobox protein Hox-A6; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. 9606.ENSP00000222747,TSPAN12,305,"Tetraspanin-12; Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt- dependent activation of FZD4, suggesting the existence of a Wnt- independent signaling that also [...] " 9606.ENSP00000222792,CHN2,468,Beta-chimaerin; GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low- grade to high-grade tumors. 9606.ENSP00000222800,ABHD11,315,Protein ABHD11; Abhydrolase domain containing 11. 9606.ENSP00000222803,FKBP14,211,"Peptidyl-prolyl cis-trans isomerase FKBP14; PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4- hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens." 9606.ENSP00000222812,STX1A,288,"Syntaxin-1A; Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis. Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final [...] " 9606.ENSP00000222823,NOD1,953,Nucleotide-binding oligomerization domain-containing protein 1; Enhances caspase-9-mediated apoptosis. Induces NF-kappa-B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathway activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shi [...] 9606.ENSP00000222968,PDAP1,181,"28 kDa heat- and acid-stable phosphoprotein; Enhances PDGFA-stimulated cell growth in fibroblasts, but inhibits the mitogenic effect of PDGFB." 9606.ENSP00000222982,CYP3A5,502,"Cytochrome P450 3A5; A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of catechol estrogens from 17beta- estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2. Catalyzes 6beta-hydroxylation of the steroid hor [...] " 9606.ENSP00000222990,SNX8,465,Sorting nexin-8; May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network. 9606.ENSP00000223023,WASL,505,"Neural Wiskott-Aldrich syndrome protein; Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex. Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polymerization. Together with CDC42, involved in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. In addition to its role in the cytoplasm, also plays a role in the nucleus by regulating gene transcription, probably by promoting nuclear actin polymerization. Binds to HSF1/HSTF1 and forms a [...] " 9606.ENSP00000223026,HYAL4,481,"Hyaluronidase-4; Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide." 9606.ENSP00000223029,AIMP2,320,"Aminoacyl tRNA synthase complex-interacting multifunctional protein 2; Required for assembly and stability of the aminoacyl-tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor." 9606.ENSP00000223061,PCOLCE,449,Procollagen C-endopeptidase enhancer 1; Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity. 9606.ENSP00000223073,RBM28,759,RNA-binding protein 28; Nucleolar component of the spliceosomal ribonucleoprotein complexes. 9606.ENSP00000223095,SERPINE1,402,"Plasminogen activator inhibitor 1; Serine protease inhibitor. Inhibits TMPRSS7. Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots. As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading. Acts as a regulator of cell migration, independently of its role as protease inhibitor. It is required for stimulation of keratinocyte migration during cutaneous injury repair. It [...] " 9606.ENSP00000223114,MOGAT3,341,2-acylglycerol O-acyltransferase 3; Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. 9606.ENSP00000223127,PLOD3,738,"Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3; Multifunctional enzyme that catalyzes a series of essential post-translational modifications on Lys residues in procollagen. Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine. Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosyl-5-hydroxylysine resid [...] " 9606.ENSP00000223129,RPA3,121,"Replication protein A 14 kDa subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP [...] " 9606.ENSP00000223136,FIS1,152,"Mitochondrial fission 1 protein; Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. Belongs to the FIS1 family." 9606.ENSP00000223145,GLCCI1,547,Glucocorticoid-induced transcript 1 protein; Glucocorticoid induced 1. 9606.ENSP00000223167,MYL10,226,Myosin light chain 10. 9606.ENSP00000223208,CEP41,373,"Centrosomal protein of 41 kDa; Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Belongs to the CEP41 family." 9606.ENSP00000223210,ZNF862,1169,Zinc finger protein 862; May be involved in transcriptional regulation. 9606.ENSP00000223215,MEST,335,Mesoderm-specific transcript homolog protein; Mesoderm specific transcript; Belongs to the AB hydrolase superfamily. 9606.ENSP00000223273,YAE1,226,Protein YAE1 homolog; The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery. May be required for biogenesis of the large ribosomal subunit and initiation of translation. 9606.ENSP00000223293,GIMAP2,337,"GTPase IMAP family member 2; The heterodimer formed by GIMAP2 and GIMAP7 has GTPase activity. In contrast, GIMAP2 has no GTPase activity by itself." 9606.ENSP00000223321,PSMA2,234,"Proteasome subunit alpha type-2; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000223324,MRPL32,188,Mitochondrial ribosomal protein L32; Belongs to the bacterial ribosomal protein bL32 family. 9606.ENSP00000223357,AEBP1,1158,"Adipocyte enhancer-binding protein 1; [Isoform 1]: As a positive regulator of collagen fibrillogenesis, it is probably involved in the organization and remodeling of the extracellular matrix; Belongs to the peptidase M14 family." 9606.ENSP00000223364,MYL7,175,"Myosin regulatory light chain 2, atrial isoform; Myosin light chain 7." 9606.ENSP00000223366,GCK,466,"Hexokinase-4; Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues. Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change it [...] " 9606.ENSP00000223369,YKT6,198,"Synaptobrevin homolog YKT6; Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity." 9606.ENSP00000223398,CLIP2,1046,"CAP-Gly domain-containing linker protein 2; Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity)." 9606.ENSP00000223459,ZNF688,276,Zinc finger protein 688; May be involved in transcriptional regulation. 9606.ENSP00000223500,CHMP5,219,"Charged multivesicular body protein 5; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the [...] " 9606.ENSP00000223528,FKTN,461,"Fukutin; Catalyzes the transfer of CDP-ribitol to the distal N- acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O- mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1. Required for normal location of POMGNT1 in Golgi membranes, and for norm [...] " 9606.ENSP00000223641,SEC61B,96,Protein transport protein Sec61 subunit beta; Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER) (By similarity). Required for PKD1/Polycystin-1 biogenesis (By similarity). 9606.ENSP00000223642,C5,1676,"Complement C5 alpha' chain; Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled." 9606.ENSP00000223795,TNFSF8,234,Tumor necrosis factor ligand superfamily member 8; Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells. 9606.ENSP00000223836,AK1,210,Adenylate kinase isoenzyme 1; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. 9606.ENSP00000223862,RLN1,185,"Relaxin A chain; Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix." 9606.ENSP00000223864,PLGRKT,147,"Plasminogen receptor (KT); Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator- dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metalloproteinase activation, such as of MMP2 and MMP9." 9606.ENSP00000224073,EDF1,148,"Endothelial differentiation-related factor 1; Transcriptional coactivator stimulating NR5A1 and ligand- dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone- induced cardiomyocytes hypertrophy and lipid metabolism." 9606.ENSP00000224140,SETX,2677,"Probable helicase senataxin; Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G- rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA [...] " 9606.ENSP00000224337,BLNK,456,"B-cell linker protein; Functions as a central linker protein, downstream of the B- cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR- mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR-medi [...] " 9606.ENSP00000224356,CYP26A1,497,"Cytochrome P450 26A1; A cytochrome P450 monooxygenase involved in the metabolism of all-trans retinoic acid (atRA), a signaling molecule that binds to retinoic acid receptors and regulates gene transcription. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH- ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4 and C-18. Has no activity toward 9-cis and 13-cis retinoic acid st [...] " 9606.ENSP00000224652,ATE1,518,Arginyl-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity). 9606.ENSP00000224721,CDH23,3354,"Cadherin-23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing." 9606.ENSP00000224784,ACTA2,377,"Actin, aortic smooth muscle, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells." 9606.ENSP00000224807,SFXN3,325,"Sideroflexin-3; Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway. Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors ; Belongs to the sideroflexin family." 9606.ENSP00000224862,FBXL15,300,"F-box/LRR-repeat protein 15; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2." 9606.ENSP00000224950,STN1,368,"CST complex subunit STN1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...] " 9606.ENSP00000225171,DNAJC12,198,DnaJ heat shock protein family member C12. 9606.ENSP00000225174,PPIF,207,"Peptidyl-prolyl cis-trans isomerase F, mitochondrial; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved [...] " 9606.ENSP00000225235,TBC1D12,775,TBC1 domain family member 12; RAB11A-binding protein that plays a role in neurite outgrowth. 9606.ENSP00000225275,MPO,745,"Myeloperoxidase heavy chain; Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity; Belongs to the peroxidase family. XPO subfamily." 9606.ENSP00000225276,ST6GALNAC2,374,"Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2; Catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins." 9606.ENSP00000225296,DHX33,707,"ATP-dependent RNA helicase DHX33; Implicated in nucleolar organization, ribosome biogenesis, protein synthesis and cytoplasmic dsRNA sensing (By similarity). Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment. In the cytoplasm, promotes elongation-competent 80S ribosome assembly at the late stage of mRNA translation initiation. Senses cytosolic dsRNA mediating NLRP3 inflammasome formation in macrophages and type I interferon production in myeloid dendritic cells. Required for NLRP3 ac [...] " 9606.ENSP00000225298,UTP18,556,U3 small nucleolar RNA-associated protein 18 homolog; Involved in nucleolar processing of pre-18S ribosomal RNA. Belongs to the WD repeat UTP18 family. 9606.ENSP00000225328,P2RX5,422,P2X purinoceptor 5; Receptor for ATP that acts as a ligand-gated ion channel; Belongs to the P2X receptor family. 9606.ENSP00000225371,EPX,715,Eosinophil peroxidase heavy chain; Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis; Belongs to the peroxidase family. XPO subfamily. 9606.ENSP00000225387,CRYBA1,215,"Beta-crystallin A3, isoform A1, Delta4 form; Crystallins are the dominant structural components of the vertebrate eye lens." 9606.ENSP00000225388,NUFIP2,695,Nuclear fragile X mental retardation-interacting protein 2; Binds RNA. 9606.ENSP00000225430,RPL19,196,Ribosomal protein L19; Belongs to the eukaryotic ribosomal protein eL19 family. 9606.ENSP00000225474,CSF3,207,"Granulocyte colony-stimulating factor; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes; Belongs to the IL-6 superfamily." 9606.ENSP00000225504,SUPT4H1,117,"Transcription elongation factor SPT4; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote paus [...] " 9606.ENSP00000225512,WNT3,355,"Proto-oncogene Wnt-3; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family. Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development." 9606.ENSP00000225519,SHPK,478,Sedoheptulokinase; Acts as a modulator of macrophage activation through control of glucose metabolism. 9606.ENSP00000225525,TAX1BP3,124,"Tax1-binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6." 9606.ENSP00000225538,P2RX1,399,"P2X purinoceptor 1; Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity)." 9606.ENSP00000225550,KRT37,449,"Keratin, type I cuticular Ha7; Keratin 37." 9606.ENSP00000225576,TVP23C,276,Trans-golgi network vesicle protein 23 homolog C; Belongs to the TVP23 family. 9606.ENSP00000225577,RPS6KB1,525,"Ribosomal protein S6 kinase beta-1; Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression. Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD. Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex. Upon mitogenic stimulation, phosphorylation by the mammalian target of rapamycin complex 1 (mTO [...] " 9606.ENSP00000225609,PIGL,252,N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase; Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol; Belongs to the PIGL family. 9606.ENSP00000225614,GALK1,392,Galactokinase; Major enzyme for galactose metabolism; Belongs to the GHMP kinase family. GalK subfamily. 9606.ENSP00000225655,PFN1,140,"Profilin-1; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR." 9606.ENSP00000225665,SLC25A11,314,"Mitochondrial 2-oxoglutarate/malate carrier protein; Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism. Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae. Involved in the regulation of apoptosis (By similarity). Acts as a tumor-suppressor gene i [...] " 9606.ENSP00000225688,RASD1,281,Dexamethasone-induced Ras-related protein 1; Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity); Belongs to the small GTPase superfamily. RasD family. 9606.ENSP00000225698,C1QBP,282,"Complement component 1 Q subcomponent-binding protein, mitochondrial; Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a [...] " 9606.ENSP00000225719,CPD,1380,Carboxypeptidase D. 9606.ENSP00000225724,GOSR1,250,"Golgi SNAP receptor complex member 1; Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an import [...] " 9606.ENSP00000225726,CCDC47,483,Coiled-coil domain-containing protein 47; Involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum. Required for proper protein degradation via the ERAD pathway. Has an essential role in the maintenance of endoplasmic reticulum organization during embryogenesis (By similarity). 9606.ENSP00000225728,MED31,131,"Mediator of RNA polymerase II transcription subunit 31; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000225729,DRG2,364,"Developmentally-regulated GTP-binding protein 2; Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of 'Lys-21' by JMJD7, may bind to RNA and play a role in translation." 9606.ENSP00000225737,AKAP10,662,"A-kinase anchor protein 10, mitochondrial; Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain [...] " 9606.ENSP00000225792,DDX5,614,Probable ATP-dependent RNA helicase DDX5; Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre- mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 t [...] 9606.ENSP00000225823,ASIC2,563,"Acid-sensing ion channel 2; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate." 9606.ENSP00000225831,CCL2,99,C-C motif chemokine 2; Acts as a ligand for C-C chemokine receptor CCR2. Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions. Exhibits a chemotactic activity for monocytes and basophils but not neutrophils or eosinophils. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. 9606.ENSP00000225842,CCL1,96,C-C motif chemokine 1; Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8; Belongs to the intercrine beta (chemokine CC) family. 9606.ENSP00000225844,CCL13,98,"C-C motif chemokine 13, medium chain; Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens; Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000225899,KRT32,448,"Keratin, type I cuticular Ha2; Keratin 32; Belongs to the intermediate filament family." 9606.ENSP00000225916,KAT2A,837,"Histone acetyltransferase KAT2A; Protein lysine acyltransferase that can act as a acetyltransferase, glutaryltransferase or succinyltransferase, depending on the context. Acts as a histone lysine succinyltransferase: catalyzes succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes. Succinylation of histones gives a specific tag for epigenetic transcription activation. Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation. In different complexes, f [...] " 9606.ENSP00000225927,NAGLU,743,Alpha-N-acetylglucosaminidase 77 kDa form; Involved in the degradation of heparan sulfate. 9606.ENSP00000225929,HSD17B1,329,Estradiol 17-beta-dehydrogenase 1; Favors the reduction of estrogens and androgens. Also has 20- alpha-HSD activity. Uses preferentially NADH; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000225941,ABI3,366,"ABI gene family member 3; May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility; Belongs to the ABI family." 9606.ENSP00000225964,COL1A1,1464,Collagen alpha-1(I) chain; Type I collagen is a member of group I collagen (fibrillar forming collagen). 9606.ENSP00000225969,MRPL27,148,Mitochondrial ribosomal protein L27. 9606.ENSP00000225972,LRRC59,307,"Leucine-rich repeat-containing protein 59, N-terminally processed; Required for nuclear import of FGF1, but not that of FGF2. Might regulate nuclear import of exogenous FGF1 by facilitating interaction with the nuclear import machinery and by transporting cytosolic FGF1 to, and possibly through, the nuclear pores." 9606.ENSP00000225983,HDAC5,1123,"Histone deacetylase 5; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Invo [...] " 9606.ENSP00000226004,DUSP3,185,"Dual specificity protein phosphatase 3; Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2." 9606.ENSP00000226021,CACNG1,222,Voltage-dependent calcium channel gamma-1 subunit; Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. 9606.ENSP00000226067,HLF,295,"Hepatic leukemia factor; HLF transcription factor, PAR bZIP family member; Belongs to the bZIP family. PAR subfamily." 9606.ENSP00000226091,EFNB3,340,"Ephrin-B3; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, an [...] " 9606.ENSP00000226105,RANGRF,186,"Ran guanine nucleotide release factor; May regulate the intracellular trafficking of RAN. Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1. Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics. Enhances the expression of SCN5A at the cell membrane in cardiomyocytes. Belongs to the MOG1 family." 9606.ENSP00000226193,RCVRN,200,"Recoverin; Acts as a calcium sensor and regulates phototransduction of cone and rod photoreceptor cells (By similarity). Modulates light sensitivity of cone photoreceptor in dark and dim conditions (By similarity). In response to high Ca(2+) levels induced by low light levels, prolongs RHO/rhodopsin activation in rod photoreceptor cells by binding to and inhibiting GRK1-mediated phosphorylation of RHO/rhodopsin (By similarity). Plays a role in scotopic vision/enhances vision in dim light by enhancing signal transfer between rod photoreceptors and rod bipolar cells (By similarity). Impr [...] " 9606.ENSP00000226207,MYH1,1939,Myosin-1; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. 9606.ENSP00000226218,VTN,478,Vitronectin V10 subunit; Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway. 9606.ENSP00000226225,TNFAIP1,316,"BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA- dependent DNA polymerase delta activity; Belongs to the BACURD family." 9606.ENSP00000226230,TMEM97,176,"Sigma intracellular receptor 2; Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cancer cells. Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation. Under investigation for its potential diagnostic and therapeutic uses. May play a role as a regulator of cellular cholesterol homeostasis. May function as sterol isomerase. May alter the activity of some cytochrome P450 proteins." 9606.ENSP00000226247,FOXN1,648,"Forkhead box protein N1; Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, includin [...] " 9606.ENSP00000226279,CD38,300,"ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1; Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system." 9606.ENSP00000226284,IBSP,317,Bone sialoprotein 2; Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes Arg-Gly-Asp-dependent cell attachment. 9606.ENSP00000226299,LAP3,519,Cytosol aminopeptidase; Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N- terminal amino acids from various peptides; Belongs to the peptidase M17 family. 9606.ENSP00000226317,CXCL6,114,"Small-inducible cytokine B6, N-processed variant 1; Chemotactic for neutrophil granulocytes. Signals through binding and activation of its receptors (CXCR1 and CXCR2). In addition to its chemotactic and angiogenic properties, it has strong antibacterial activity against Gram-positive and Gram-negative bacteria (90-fold-higher when compared to CXCL5 and CXCL7)." 9606.ENSP00000226319,JADE1,842,"Protein Jade-1; Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator, it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function." 9606.ENSP00000226355,AFM,599,"Afamin; Functions as carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B. Binds vitamin E. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the transport of vitamin E across the blood-brain barrier. Belongs to the ALB/AFP/VDB family." 9606.ENSP00000226382,PHOX2B,314,"Paired mesoderm homeobox protein 2B; Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta- hydrolase and c-fos promoters, and of several enhancers including cAMP- response element and serum-response element; Belongs to the paired homeobox family." 9606.ENSP00000226413,GNRHR,328,Gonadotropin-releasing hormone receptor; Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G- proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling. 9606.ENSP00000226432,CWH43,699,PGAP2-interacting protein; Involved in lipid remodeling during GPI-anchor maturation. 9606.ENSP00000226444,SULT1E1,294,"Sulfotransferase 1E1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of estradiol and estrone. Is a key enzyme in estrogen homeostasis, the sulfation of estrogens leads to their inactivation. Also sulfates dehydroepiandrosterone (DHEA), pregnenolone, (24S)-hydroxycholesterol and xenobiotic compounds like ethinylestradiol, equalenin, diethyl stilbesterol and 1-naphthol at significantly lower efficiency. Does not sulfonate cortisol, testosterone and dopamine." 9606.ENSP00000226460,SMR3A,134,Submaxillary gland androgen-regulated protein 3A; May play a role in protection or detoxification. Belongs to the PROL1/PROL3 family. 9606.ENSP00000226524,PF4V1,104,Platelet factor 4 variant(4-74); Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro); Belongs to the intercrine alpha (chemokine CxC) family. 9606.ENSP00000226574,NFKB1,969,"Nuclear factor NF-kappa-B p105 subunit; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain- containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dime [...] " 9606.ENSP00000226730,IL2,153,"Interleukin-2; Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Can stimulate B-cells, monocytes, lymphokine-activated killer cells, natural killer cells, and glioma cells." 9606.ENSP00000226760,WFS1,890,"Wolframin; Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store." 9606.ENSP00000226796,GAR1,217,"H/ACA ribonucleoprotein complex subunit 1; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...] " 9606.ENSP00000226798,FRG1,258,Protein FRG1; Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B. Belongs to the FRG1 family. 9606.ENSP00000226951,CLNK,428,"Cytokine-dependent hematopoietic cell linker; An adapter protein which plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation (By similarity). Together with FGR, it acts as a negative regulator of natural killer cell-activating receptors and inhibits interferon-gamma production (By similarity). Acts as a positive regulator of both T-cell receptor and natural killer T (NKT) cell receptor signaling in CD4-positive NKT cells (By similarity). Together with MAP4K1, it [...] " 9606.ENSP00000227065,FAM149A,482,Protein FAM149A; Family with sequence similarity 149 member A. 9606.ENSP00000227155,CD82,267,CD82 antigen; Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000227163,SPI1,271,"Transcription factor PU.1; Binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA- 3') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B-cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity); Belongs to the ETS family." 9606.ENSP00000227266,CTSC,463,"Dipeptidyl peptidase 1 exclusion domain chain; Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII; Belongs to the peptidase C1 family." 9606.ENSP00000227322,ZPR1,459,"Zinc finger protein ZPR1; Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death; Belongs to the ZPR1 family." 9606.ENSP00000227348,CRTAM,393,Cytotoxic and regulatory T-cell molecule; Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo; Belongs to the nectin family. 9606.ENSP00000227349,JHY,778,Jhy protein homolog; Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces. 9606.ENSP00000227451,DTX4,619,"E3 ubiquitin-protein ligase DTX4; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as a ubiquitin ligase protein in vivo, mediating 'Lys48'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4." 9606.ENSP00000227471,UNC93B1,597,"Protein unc-93 homolog B1; Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B-cells removal. Belongs to the unc-93 family." 9606.ENSP00000227474,PUS3,481,tRNA pseudouridine(38/39) synthase; Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs; Belongs to the tRNA pseudouridine synthase TruA family. 9606.ENSP00000227507,CCND1,295,G1/S-specific cyclin-D1; Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...] 9606.ENSP00000227520,CCDC86,360,Coiled-coil domain containing 86. 9606.ENSP00000227524,PRPF19,504,"Pre-mRNA-processing factor 19; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Required for pre-mRNA splicing as component of the spliceosome. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates 'Lys-63'-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and [...] " 9606.ENSP00000227525,TMEM109,243,Transmembrane protein 109; May mediate cellular response to DNA damage by protecting against ultraviolet C-induced cell death. Can form voltage-gated calcium and potassium channels in vitro (By similarity). 9606.ENSP00000227638,PANX1,426,Pannexin-1; Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis. 9606.ENSP00000227667,APOC3,99,"Apolipoprotein C-III; Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma. Plays a multifaceted role in triglyceride homeostasis. Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride- rich lipoproteins (TRLs). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors. Formed of several curved helices connected via semiflexible hinges, so that it can wrap tig [...] " 9606.ENSP00000227752,IL10RA,578,"Interleukin-10 receptor subunit alpha; Cell surface receptor for the cytokine IL10 that participates in IL10-mediated anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Upon binding to IL10, induces a conformational change in IL10RB, allowing IL10RB to bind IL10 as well. In turn, the heterotetrameric assembly complex, composed of two subunits of IL10RA and IL10RB, activates the kinases JAK1 and TYK2 that are constitutively associated with IL10RA and IL10RB respectively. These kinases then phosphorylate specific tyrosine residues in the intracellul [...] " 9606.ENSP00000227756,GALNT18,607,"Polypeptide N-acetylgalactosaminyltransferase 18; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor." 9606.ENSP00000227868,PDHX,501,"Pyruvate dehydrogenase protein X component, mitochondrial; Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex." 9606.ENSP00000227880,SLC15A3,581,Solute carrier family 15 member 3; Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity). 9606.ENSP00000227918,SCGB2A2,93,Mammaglobin-A; Secretoglobin family 2A member 2; Belongs to the secretoglobin family. Lipophilin subfamily. 9606.ENSP00000228027,DGAT2,388,"Diacylglycerol O-acyltransferase 2; Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT)." 9606.ENSP00000228136,C11orf58,183,Small acidic protein; Chromosome 11 open reading frame 58; Belongs to the SMAP family. 9606.ENSP00000228251,YBX3,372,Y-box-binding protein 3; Binds to the GM-CSF promoter. Seems to act as a repressor. Binds also to full-length mRNA and to short RNA sequences containing the consensus site 5'-UCCAUCA-3'. May have a role in translation repression (By similarity). 9606.ENSP00000228318,SLC25A3,362,"Phosphate carrier protein, mitochondrial; Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP)." 9606.ENSP00000228347,POLR3B,1133,"DNA-directed RNA polymerase III subunit RPC2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the clef [...] " 9606.ENSP00000228434,CD69,199,"Early activation antigen CD69; Involved in lymphocyte proliferation and functions as a signal transmitting receptor in lymphocytes, natural killer (NK) cells, and platelets." 9606.ENSP00000228437,PRDM4,801,PR domain zinc finger protein 4; May function as a transcription factor involved in cell differentiation; Belongs to the class V-like SAM-binding methyltransferase superfamily. 9606.ENSP00000228438,CLEC2B,149,C-type lectin domain family 2 member B. 9606.ENSP00000228463,SELPLG,428,"P-selectin glycoprotein ligand 1; A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture." 9606.ENSP00000228468,ASIC1,574,"Acid-sensing ion channel 1; Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate- independent Ca(2+) entr [...] " 9606.ENSP00000228476,DAO,347,"D-amino-acid oxidase; Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D-amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids; Belongs to the DAMOX/DASOX family." 9606.ENSP00000228495,KCTD10,313,"BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitin ligase complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome (By similarity)." 9606.ENSP00000228506,MLEC,292,Malectin; Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N- glycosylation (By similarity); Belongs to the malectin family. 9606.ENSP00000228510,MVK,396,"Mevalonate kinase; Catalyzes the phosphorylation of mevalonate to mevalonate 5- phosphate, a key step in isoprenoid and cholesterol biosynthesis ; Belongs to the GHMP kinase family. Mevalonate kinase subfamily." 9606.ENSP00000228515,CSRNP2,543,Cysteine/serine-rich nuclear protein 2; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May play a role in apoptosis. 9606.ENSP00000228534,IL23A,189,"Interleukin-23 subunit alpha; Associates with IL12B to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tu [...] " 9606.ENSP00000228567,SYT10,523,Synaptotagmin-10; Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis (By similarity). Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). 9606.ENSP00000228606,CYP27B1,508,"25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha- position to form the hormonally active form of vitamin D3, 1alpha,25- dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway. Converts 24R,25-dihydrox [...] " 9606.ENSP00000228641,MYF6,242,Myogenic factor 6; Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. 9606.ENSP00000228644,MYF5,255,"Myogenic factor 5; Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYOG and MYOD1, co-occupies muscle- specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein." 9606.ENSP00000228682,GLI1,1106,"Zinc finger protein GLI1; Acts as a transcriptional activator. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Regulates the transcription of specific genes during normal development. Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling. Plays a role in cell proliferation and differentiation via its role in SHH signaling. Belongs to the GLI C2H2-type zinc-finger protein family." 9606.ENSP00000228705,PPM1H,514,"Protein phosphatase 1H; Dephosphorylates CDKN1B at 'Thr-187', thus removing a signal for proteasomal degradation." 9606.ENSP00000228740,LTA4H,611,Leukotriene A-4 hydrolase; Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. 9606.ENSP00000228741,ELK3,407,"ETS domain-containing protein Elk-3; May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element." 9606.ENSP00000228799,ITFG2,447,"KICSTOR complex protein ITFG2; As part of the KICSTOR complex functions in the amino acid- sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose." 9606.ENSP00000228811,PRR4,134,Proline-rich protein 4; Proline rich 4. 9606.ENSP00000228820,PARP11,338,Protein mono-ADP-ribosyltransferase PARP11; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins. Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). 9606.ENSP00000228825,ARPC3,178,"Actin-related protein 2/3 complex subunit 3; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA [...] " 9606.ENSP00000228837,FGF6,208,"Fibroblast growth factor 6; Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration. Belongs to the heparin-binding growth factors family." 9606.ENSP00000228841,MYL2,166,"Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin [...] " 9606.ENSP00000228843,RAD51AP1,352,"RAD51-associated protein 1; May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double- strand break repair. Functionally cooperates with PALB2 in promoting of D-loop formation by RAD51. Binds to single and double stranded DNA, and is capable of aggregating DNA. Also binds RNA." 9606.ENSP00000228850,AKAP3,853,A-kinase anchor protein 3; May function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. 9606.ENSP00000228865,CREBL2,120,cAMP-responsive element-binding protein-like 2; Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor; Belongs to the bZIP family. ATF subfamily. 9606.ENSP00000228872,CDKN1B,198,"Cyclin-dependent kinase inhibitor 1B; Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA. Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry. Belongs to the CDI family." 9606.ENSP00000228887,GPRC5D,345,G protein-coupled receptor class C group 5 member D; Belongs to the G-protein coupled receptor 3 family. 9606.ENSP00000228918,LTBR,435,"Tumor necrosis factor receptor superfamily member 3; Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT. Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs." 9606.ENSP00000228922,OGFOD2,350,2-oxoglutarate and iron dependent oxygenase domain containing 2. 9606.ENSP00000228928,OAS3,1087,"2'-5'-oligoadenylate synthase 3; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibi [...] " 9606.ENSP00000228936,ART4,314,ADP-ribosyltransferase 4; Belongs to the Arg-specific ADP-ribosyltransferase family. 9606.ENSP00000228938,MGP,128,Matrix Gla protein; Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation. 9606.ENSP00000228945,ARHGDIB,201,"Rho GDP-dissociation inhibitor 2; Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Regulates reorganization of the actin cytoskeleton mediated by Rho family members." 9606.ENSP00000229002,RERGL,205,Ras-related and estrogen-regulated growth inhibitor-like protein; Binds GDP/GTP and may possess intrinsic GTPase activity. 9606.ENSP00000229030,FZD10,581,"Frizzled-10; Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GS [...] " 9606.ENSP00000229134,IL26,171,"Interleukin-26; May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin." 9606.ENSP00000229135,IFNG,166,"Interferon gamma; Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons; Belongs to the type II (or gamma) interferon family." 9606.ENSP00000229179,NUP107,925,Nuclear pore complex protein Nup107; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC. Involved in nephrogenesis. 9606.ENSP00000229195,CNOT2,540,"CCR4-NOT transcription complex subunit 2; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4- NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may s [...] " 9606.ENSP00000229214,KRR1,381,KRR1 small subunit processome component homolog; Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity). 9606.ENSP00000229238,MRPL51,128,Mitochondrial ribosomal protein L51; Belongs to the mitochondrion-specific ribosomal protein mL51 family. 9606.ENSP00000229243,ACRBP,543,Acrosin-binding protein; May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin. 9606.ENSP00000229264,GNB3,340,"Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000229266,CHPT1,406,Cholinephosphotransferase 1; Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. 9606.ENSP00000229268,USP5,858,Ubiquitin carboxyl-terminal hydrolase 5; Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys- 48'-linked polyubiquitin disassembly. Binds linear and 'Lys-63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition. 9606.ENSP00000229270,TPI1,286,Triosephosphate isomerase; Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis. 9606.ENSP00000229281,C12orf57,126,"Protein C10; In brain, may be required for corpus callosum development. Belongs to the UPF0456 family." 9606.ENSP00000229304,APOBEC1,236,C->U-editing enzyme APOBEC-1; Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation; Belongs to the cytidine and deoxycytidylate deaminase family. 9606.ENSP00000229307,NANOG,305,Homeobox protein NANOG; Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'-TAAT[GT][GT] [...] 9606.ENSP00000229314,GOLT1B,138,Vesicle transport protein GOT1B; May be involved in fusion of ER-derived transport vesicles with the Golgi complex. 9606.ENSP00000229329,CMAS,434,"N-acylneuraminate cytidylyltransferase; Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D- glycero-D-galacto-nononic acid (KDN)." 9606.ENSP00000229330,HCFC2,792,Host cell factor C2. 9606.ENSP00000229332,CLEC4A,237,"C-type lectin domain family 4 member A; C-type lectin receptor that binds carbohydrates mannose and fucose but also weakly interacts with N-acetylglucosamine (GlcNAc) in a Ca(2+)-dependent manner. Involved in regulating immune reactivity. Once triggered by antigen, it is internalized by clathrin-dependent endocytosis and delivers its antigenic cargo into the antigen presentation pathway resulting in cross-priming of CD8(+) T cells. This cross-presentation and cross-priming are enhanced by TLR7 and TLR8 agonists with increased expansion of the CD8(+) T cells, high production of IFNG and [...] " 9606.ENSP00000229335,AICDA,198,"Single-stranded DNA cytosine deaminase; Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation." 9606.ENSP00000229340,RAB35,201,"Ras-related protein Rab-35; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in the process of endocytosis and is an essential rate-limiting regulator of the fast recycling pathway back to the plasma membrane. During cytokinesis, required f [...] " 9606.ENSP00000229379,COX6A1,109,"Cytochrome c oxidase subunit 6A1, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembran [...] " 9606.ENSP00000229390,SRSF9,221,Serine/arginine-rich splicing factor 9; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10. Belongs to the splicing factor SR family. 9606.ENSP00000229395,FGFR1OP2,253,FGFR1 oncogene partner 2; May be involved in wound healing pathway; Belongs to the SIKE family. 9606.ENSP00000229402,KLRB1,225,"Killer cell lectin-like receptor subfamily B member 1; Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N- acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediat [...] " 9606.ENSP00000229447,IYD,293,"Iodotyrosine deiodinase 1; Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone- producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine. Belongs to the nitroreductase family." 9606.ENSP00000229554,RSPH4A,716,"Radial spoke head protein 4 homolog A; Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules." 9606.ENSP00000229583,ADTRP,248,"Androgen-dependent TFPI-regulating protein; Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids. Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids. Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro). Belongs to the AIG1 family." 9606.ENSP00000229595,ASF1A,204,Histone chaperone ASF1A; Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Belongs to the ASF1 family. 9606.ENSP00000229633,HINT3,182,Histidine triad nucleotide-binding protein 3; Hydrolyzes phosphoramidate and acyl-adenylate substrates. Belongs to the HINT family. 9606.ENSP00000229708,ULBP1,244,"UL16-binding protein 1; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity." 9606.ENSP00000229729,SLC44A4,710,"Choline transporter-like protein 4; Choline transporter that plays a role in the choline- acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota- generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis." 9606.ENSP00000229758,FBXO5,447,"F-box only protein 5; Regulator of APC activity during mitotic and meiotic cell cycle. During mitotic cell cycle plays a role as both substrate and inhibitor of APC-FZR1 complex. During G1 phase, plays a role as substrate of APC-FZR1 complex E3 ligase. Then switches as an inhibitor of APC-FZR1 complex during S and G2 leading to cell-cycle commitment. As APC inhibitor, prevents the degradation of APC substrates at multiple levels: by interacting with APC and blocking access of APC substrates to the D-box coreceptor, formed by FZR1 and ANAPC10; by suppressing ubiquitin ligation and chain [...] " 9606.ENSP00000229769,FANCE,536,Fanconi anemia group E protein; As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. 9606.ENSP00000229771,TULP1,542,"Tubby-related protein 1; Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5- bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitr [...] " 9606.ENSP00000229795,MAPK14,360,"Mitogen-activated protein kinase 14; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are a [...] " 9606.ENSP00000229812,STK38,465,Serine/threonine-protein kinase 38; Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2. 9606.ENSP00000229829,HLA-DOA,250,"HLA class II histocompatibility antigen, DO alpha chain; Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B- cells. Modifies peptide exchange activity of HLA-DM." 9606.ENSP00000229903,SAYSD1,183,SAYSVFN motif domain containing 1. 9606.ENSP00000229922,CAP2,477,Adenylyl cyclase-associated protein 2; May have a regulatory bifunctional role; Belongs to the CAP family. 9606.ENSP00000229955,GPR63,419,Probable G-protein coupled receptor 63; Orphan receptor. May play a role in brain function. 9606.ENSP00000230036,GPLD1,840,Phosphatidylinositol-glycan-specific phospholipase D; This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane. 9606.ENSP00000230048,ACOT13,140,"Acyl-coenzyme A thioesterase 13, N-terminally processed; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4- dihydroxyphenylacetyl-CoA (in vitro). May play a role in controlling adaptive thermogenesis (By similarity)." 9606.ENSP00000230050,RPS12,132,Ribosomal protein S12. 9606.ENSP00000230053,B3GAT2,323,Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins. 9606.ENSP00000230056,GMNN,209,Geminin; Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle; Belongs to the geminin family. 9606.ENSP00000230085,SNX3,162,"Sorting nexin-3; Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediat [...] " 9606.ENSP00000230122,ZBTB24,697,Zinc finger and BTB domain-containing protein 24; May be involved in BMP2-induced transcription. 9606.ENSP00000230124,FIG4,907,"Polyphosphoinositide phosphatase; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes." 9606.ENSP00000230256,UNC93A,457,Unc-93 homolog A. 9606.ENSP00000230301,C6orf118,469,Uncharacterized protein C6orf118; Chromosome 6 open reading frame 118. 9606.ENSP00000230321,MDFI,246,"MyoD family inhibitor; Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA- binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the l [...] " 9606.ENSP00000230340,BYSL,437,Bystin; Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin- dependent regulation of cell adhesion during implantation of human embryos; Belongs to the bystin family. 9606.ENSP00000230354,TBP,339,"TATA-box-binding protein; General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase [...] " 9606.ENSP00000230361,GUCA1B,200,"Guanylyl cyclase-activating protein 2; Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor response and recovery of response in bright light (By similarity)." 9606.ENSP00000230381,PRPH2,346,"Peripherin-2; Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). Belongs to the PRPH2/ROM1 family." 9606.ENSP00000230431,DNPH1,174,2'-deoxynucleoside 5'-phosphate N-hydrolase 1; Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases; Belongs to the 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 family. 9606.ENSP00000230449,EXOC2,924,Exocyst complex component 2; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane; Belongs to the SEC5 family. 9606.ENSP00000230461,TMEM30A,361,"Cell cycle control protein 50A; Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. [...] " 9606.ENSP00000230538,LAMA4,1823,"Laminin subunit alpha-4; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000230582,PRSS16,514,Thymus-specific serine protease; Protease that may play a role in T-cell development; Belongs to the peptidase S28 family. 9606.ENSP00000230588,MEP1A,746,Meprin A subunit alpha. 9606.ENSP00000230640,MTREX,1042,"Exosome RNA helicase MTR4; Catalyzes the ATP-dependent unwinding of RNA duplexes with a single-stranded 3' RNA extension. Central subunit of many protein complexes, namely TRAMP-like, nuclear exosome targeting (NEXT) and poly(A) tail exosome targeting (PAXT). NEXT functions as an RNA exosome cofactor that directs a subset of non- coding short-lived RNAs for exosomal degradation. NEXT is involved in surveillance and turnover of aberrant transcripts and non-coding RNAs. PAXT directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental [...] " 9606.ENSP00000230658,ISL1,349,Insulin gene enhancer protein ISL-1; DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for [...] 9606.ENSP00000230671,SLC6A7,636,Sodium-dependent proline transporter; Terminates the action of proline by its high affinity sodium- dependent reuptake into presynaptic terminals. 9606.ENSP00000230792,NUDT12,462,"Peroxisomal NADH pyrophosphatase NUDT12; Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. Belongs to the Nudix hydrolase family. NudC subfamily." 9606.ENSP00000230990,HBEGF,208,"Proheparin-binding EGF-like growth factor; Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor." 9606.ENSP00000231004,LOX,417,"Protein-lysine 6-oxidase, short form; Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity); Belongs to the lysyl oxidase family." 9606.ENSP00000231009,GZMK,264,Granzyme K; Belongs to the peptidase S1 family. Granzyme subfamily. 9606.ENSP00000231021,CDH9,789,Cadherin-9; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000231061,SPARC,303,"SPARC; Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity." 9606.ENSP00000231121,HAND1,215,"Heart- and neural crest derivatives-expressed protein 1; Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Acts as a transcriptional repressor of SOX15 (By similarity). In the adult, could be required for ongoing expression of cardiac-specific genes." 9606.ENSP00000231130,PCDHB3,796,Protocadherin beta-3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000231134,PCDHB5,795,Protocadherin beta-5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000231136,PCDHB6,794,"Protocadherin beta-6; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain." 9606.ENSP00000231137,PCDHB7,793,Protocadherin beta-7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000231173,PCDHB15,787,Protocadherin beta-15; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000231198,THG1L,298,Probable tRNA(His) guanylyltransferase; Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. 9606.ENSP00000231228,IL12B,328,"Interleukin-12 subunit beta; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. Belongs to the IL-12B family." 9606.ENSP00000231238,TTC1,292,Tetratricopeptide repeat domain 1. 9606.ENSP00000231368,LNPEP,1025,"Leucyl-cystinyl aminopeptidase, pregnancy serum form; Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain." 9606.ENSP00000231420,AGXT2,514,"Alanine--glyoxylate aminotransferase 2, mitochondrial; Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000231449,IL4,153,Interleukin-4; Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages (By similarity). Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4 (By [...] 9606.ENSP00000231454,IL5,134,Interleukin-5; Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells; Belongs to the IL-5 family. 9606.ENSP00000231461,ST8SIA4,359,"CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells." 9606.ENSP00000231484,PCDH12,1184,"Protocadherin-12, secreted form; Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell- cell adhesion. Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity)." 9606.ENSP00000231487,SKP1,163,"S-phase kinase-associated protein 1; Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC [...] " 9606.ENSP00000231498,NUP155,1391,Nuclear pore complex protein Nup155; Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport. 9606.ENSP00000231509,NR3C1,778,"Glucocorticoid receptor; Receptor for glucocorticoids (GC). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling. Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand- dependent manner which recruits the RNA helicase UPF1 and the mRNA- decapping enzyme D [...] " 9606.ENSP00000231512,C5orf15,265,Keratinocyte-associated transmembrane protein 2; Chromosome 5 open reading frame 15. 9606.ENSP00000231524,TRIM23,574,"E3 ubiquitin-protein ligase TRIM23; Acts as an E3 ubiquitin-protein ligase. Plays an essential role in autophagy activation during viral infection. Mechanistically, activates TANK-binding kinase 1/TBK1 by facilitating its dimerization and ability to phosphorylate the selective autophagy receptor SQSTM1. In order to achieve this function, TRIM23 mediates 'Lys-27'-linked auto-ubiquitination of its ADP-ribosylation factor (ARF) domain to induce its GTPase activity and its recruitment to autophagosomes." 9606.ENSP00000231572,RARS1,660,"Arginine--tRNA ligase, cytoplasmic; Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis. Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1." 9606.ENSP00000231656,CDX1,265,Homeobox protein CDX-1; Plays a role in transcriptional regulation. Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells. Binds to the PRKD1 promoter in colorectal cancer (CRC) cells. Could play a role in the terminal differentiation of the intestine. Binds preferentially to methylated DNA. 9606.ENSP00000231668,BNIP1,271,"Vesicle transport protein SEC20; As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization. Plays also a role in apoptosis. It is for instance required for endoplasmic reticulum stress-induced apoptosis. As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable)." 9606.ENSP00000231706,SLC7A14,771,Probable cationic amino acid transporter; May be involved in arginine transport. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. 9606.ENSP00000231721,SEMA3G,782,Semaphorin-3G; Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity); Belongs to the semaphorin family. 9606.ENSP00000231749,ZMYND10,440,"Zinc finger MYND domain-containing protein 10; Plays a role in axonemal structure organization and motility. Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By similarity). May act by indirectly regulating transcription of dynein proteins (By similarity). Belongs to the ZMYND10 family." 9606.ENSP00000231751,LTF,710,"Lactotransferrin; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. Lactoferricin binds to the bacterial surface and is crucial for the bactericidal functions. Has some antiviral activity against papillomavirus infection. N-terminal region shows strong antifungal activity against C.albicans. Contains two BBXB heparin-binding consensus sequences that appear to form the predominate functional GAG- binding site. Lactoferroxins A, B and C have opioid antagonist activity. Lactoferroxin A shows pr [...] " 9606.ENSP00000231790,MLH1,756,"DNA mismatch repair protein Mlh1; Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing t [...] " 9606.ENSP00000231887,EHHADH,723,"Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase; enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase; In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family." 9606.ENSP00000231948,CRBN,442,"Protein cereblon; Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2. Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8. May play a role in memory and learning by regulating the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Binding [...] " 9606.ENSP00000232003,HRG,525,"Histidine-rich glycoprotein; Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell [...] " 9606.ENSP00000232217,RBP2,134,Retinol-binding protein 2; Intracellular transport of retinol; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. 9606.ENSP00000232219,RBP1,197,"Retinol-binding protein 1; Cytoplasmic retinol-binding protein. Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family." 9606.ENSP00000232375,PFKFB4,469,"6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family." 9606.ENSP00000232424,HES1,280,"Transcription factor HES-1; Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'- CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage." 9606.ENSP00000232461,GNAT1,350,"Guanine nucleotide-binding protein G(t) subunit alpha-1; Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina. Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP- bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, [...] " 9606.ENSP00000232496,TUSC2,110,"Tumor suppressor candidate 2; May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells; Belongs to the TUSC2 family." 9606.ENSP00000232501,NPRL2,380,"GATOR complex protein NPRL2; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway." 9606.ENSP00000232564,GNB4,340,"Guanine nucleotide-binding protein subunit beta-4; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000232603,MORC1,984,MORC family CW-type zinc finger protein 1; Required for spermatogenesis. 9606.ENSP00000232607,UMPS,480,Orotidine 5'-phosphate decarboxylase; Uridine monophosphate synthetase; In the C-terminal section; belongs to the OMP decarboxylase family. 9606.ENSP00000232744,ABTB1,478,Ankyrin repeat and BTB/POZ domain-containing protein 1; May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes. 9606.ENSP00000232766,KLHL18,574,Kelch-like protein 18; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL18) E3 ubiquitin ligase complex mediates the ubiquitination of AURKA leading to its activation at the centrosome which is required for initiating mitotic entry. Regulates light-and dark-dependent alpha-transducin localization changes in rod photoreceptors through UNC119 ubiquitination and degradation (By similarity). Preferentially ubiquitinates the unphosphorylated form of UNC119 over the phosphorylated form (By si [...] 9606.ENSP00000232888,RRP9,475,U3 small nucleolar RNA-interacting protein 2; Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA (pre-rRNA). 9606.ENSP00000232892,AADAC,399,"Arylacetamide deacetylase; Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity." 9606.ENSP00000232905,EIF1B,113,Eukaryotic translation initiation factor 1b; Probably involved in translation. 9606.ENSP00000232974,ZBTB47,747,Zinc finger and BTB domain-containing protein 47; May be involved in transcriptional regulation. 9606.ENSP00000232975,TNNC1,161,"Troponin C, slow skeletal and cardiac muscles; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments." 9606.ENSP00000232978,NKTR,1462,NK-tumor recognition protein; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Component of a putative tumor-recognition complex involved in the function of NK cells. 9606.ENSP00000233025,SPCS1,169,Signal peptidase complex subunit 1; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. Belongs to the SPCS1 family. 9606.ENSP00000233027,NEK4,841,"Serine/threonine-protein kinase Nek4; Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily." 9606.ENSP00000233055,WDFY1,410,"WD repeat and FYVE domain-containing protein 1; Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN-beta and inflammatory cytokines." 9606.ENSP00000233057,EIF2AK2,551,"Interferon-induced, double-stranded RNA-activated protein kinase; IFN-induced dsRNA-dependent serine/threonine-protein kinase which plays a key role in the innate immune response to viral infection and is also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation. Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1). Inhibits viral replication via phosphorylation of the alpha subunit of eukaryotic initiation fac [...] " 9606.ENSP00000233078,DAZAP1,407,"DAZ-associated protein 1; RNA-binding protein, which may be required during spermatogenesis." 9606.ENSP00000233099,HEATR5B,2071,HEAT repeat containing 5B; Belongs to the HEATR5 family. 9606.ENSP00000233121,MAPRE3,281,"Microtubule-associated protein RP/EB family member 3; Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non- centrosomal minus-end microtubules to the Golgi, an important step for polarized [...] " 9606.ENSP00000233143,TMSB10,44,Thymosin beta-10; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity); Belongs to the thymosin beta family. 9606.ENSP00000233146,MSH2,934,"DNA mismatch repair protein Msh2; Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a t [...] " 9606.ENSP00000233154,NCK2,380,Cytoplasmic protein NCK2; Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. 9606.ENSP00000233156,TFPI,304,"Tissue factor pathway inhibitor; Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma." 9606.ENSP00000233202,SLC11A1,550,"Natural resistance-associated macrophage protein 1; Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis [...] " 9606.ENSP00000233242,APOB,4563,"Apolipoprotein B-100; Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B- 100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor." 9606.ENSP00000233331,INO80B,356,INO80 complex subunit B; Induces growth and cell cycle arrests at the G1 phase of the cell cycle. 9606.ENSP00000233336,TTL,377,Tubulin--tyrosine ligase; Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin. 9606.ENSP00000233379,FAHD2A,314,Fumarylacetoacetate hydrolase domain-containing protein 2A; May have hydrolase activity. 9606.ENSP00000233468,SF3B6,125,"Splicing factor 3B subunit 6; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch si [...] " 9606.ENSP00000233535,SLC30A3,388,Zinc transporter 3; Involved in accumulation of zinc in synaptic vesicles. 9606.ENSP00000233575,SNX17,470,"Sorting nexin-17; Critical regulator of endosomal recycling of numerous surface proteins, including integrins, signaling receptor and channels. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Associates with retriever and CCC complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGB1, ITGB5 and their associated alpha subunits. Also required for maintenance of normal cell surface levels of APP and LRP1. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P))." 9606.ENSP00000233596,REEP6,184,"Receptor expression-enhancing protein 6; Required for correct function and survival of retinal photoreceptors. Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity)." 9606.ENSP00000233615,WBP1,269,WW domain binding protein 1. 9606.ENSP00000233623,TTC31,519,Tetratricopeptide repeat domain 31. 9606.ENSP00000233627,NDUFS7,213,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000233630,PCGF1,259,"Polycomb group RING finger protein 1; Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin-dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell p [...] " 9606.ENSP00000233638,TLX2,284,"T-cell leukemia homeobox protein 2; Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity)." 9606.ENSP00000233668,DOK1,481,Docking protein 1; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3. 9606.ENSP00000233710,ACADL,430,"Long-chain specific acyl-CoA dehydrogenase, mitochondrial; Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl- CoA (By similarity). Among the different mitochondrial acyl [...] " 9606.ENSP00000233735,REG1A,166,"Lithostathine-1-alpha; Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration." 9606.ENSP00000233809,IGFBP2,325,Insulin-like growth factor-binding protein 2; Inhibits IGF-mediated growth and developmental rates. IGF- binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. 9606.ENSP00000233813,IGFBP5,272,Insulin-like growth factor-binding protein 5; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. 9606.ENSP00000233826,KCNJ13,360,"Inward rectifier potassium channel 13; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependen [...] " 9606.ENSP00000233838,GGCX,758,Vitamin K-dependent gamma-carboxylase; Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide. 9606.ENSP00000233840,NEU2,380,"Sialidase-2; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins, oligosaccharides and gangliosides." 9606.ENSP00000233893,HSPE1,102,"10 kDa heat shock protein, mitochondrial; Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per [...] " 9606.ENSP00000233948,WNT6,365,Protein Wnt-6; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA- damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway. 9606.ENSP00000233954,IL1RL1,556,"Interleukin-1 receptor-like 1; Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T- cell function." 9606.ENSP00000233969,SLC9A2,812,Sodium/hydrogen exchanger 2; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption. 9606.ENSP00000233997,AZU1,251,"Azurocidin; This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this [...] " 9606.ENSP00000234038,PPP1R7,360,Protein phosphatase 1 regulatory subunit 7; Regulatory subunit of protein phosphatase 1; Belongs to the SDS22 family. 9606.ENSP00000234071,PROC,461,Vitamin K-dependent protein C heavy chain; Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Exerts a protective effect on the endothelial cell barrier function ; Belongs to the peptidase S1 family. 9606.ENSP00000234091,ID2,134,"DNA-binding protein inhibitor ID-2; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the C [...] " 9606.ENSP00000234111,ODC1,461,"Ornithine decarboxylase; Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis. Belongs to the Orn/Lys/Arg decarboxylase class-II family." 9606.ENSP00000234160,GORASP2,452,"Golgi reassembly-stacking protein 2; Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis. May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA. Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER [...] " 9606.ENSP00000234170,CEBPZ,1054,CCAAT/enhancer-binding protein zeta; Stimulates transcription from the HSP70 promoter; Belongs to the CBF/MAK21 family. 9606.ENSP00000234195,RMDN2,573,Regulator of microtubule dynamics 2; Belongs to the RMDN family. 9606.ENSP00000234198,DLX2,328,"Homeobox protein DLX-2; Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis." 9606.ENSP00000234256,SLC1A4,532,"Neutral amino acid transporter A; Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence." 9606.ENSP00000234296,ORC2,577,"Origin recognition complex subunit 2; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K20me3 and H4K27me3. Stabilizes LRWD1, by protecting it from ubiquitin-mediated proteasomal degradation. Also stabilizes ORC3; Belongs to the ORC2 family." 9606.ENSP00000234310,PPP3R1,170,"Calcineurin subunit B type 1; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity." 9606.ENSP00000234313,PLEK,350,Pleckstrin; Major protein kinase C substrate of platelets. 9606.ENSP00000234347,PRTN3,256,"Myeloblastin; Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro). By cleaving and activating receptor F2RL1/PAR-2, enhances endothelial cell barrier function and thus vascular integrity during neutrophil transendothelial migration. May play a role in neutrophil transendothelial migration, probably when associated with CD177. Belongs to the peptidase S1 family. Elastase subfamily." 9606.ENSP00000234371,KISS1R,398,"KiSS-1 receptor; Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis a [...] " 9606.ENSP00000234389,GRIN3B,1043,"Glutamate receptor ionotropic, NMDA 3B; NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine." 9606.ENSP00000234392,VAX2,290,"Ventral anterior homeobox 2; Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina." 9606.ENSP00000234396,ATP6V1B1,513,"V-type proton ATPase subunit B, kidney isoform; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the ATPase alpha/beta chains family." 9606.ENSP00000234420,MSH6,1360,"DNA mismatch repair protein Msh6; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, a [...] " 9606.ENSP00000234453,PLEKHA3,300,Pleckstrin homology domain-containing family A member 3; Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4- phosphate (PtdIns4P). 9606.ENSP00000234454,SPR,261,"Sepiapterin reductase; Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin; Belongs to the sepiapterin reductase family." 9606.ENSP00000234488,CLCN6,869,"Chloride transport protein 6; Chloride transport protein, initially identified as voltage- gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter; Belongs to the chloride channel (TC 2.A.49) family. ClC- 6/CLCN6 subfamily." 9606.ENSP00000234701,CLCA1,914,"Calcium-activated chloride channel regulator 1; May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC." 9606.ENSP00000234739,BCL9,1426,B-cell CLL/lymphoma 9 protein; Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). Belongs to the BCL9 family. 9606.ENSP00000234798,TPSG1,321,Tryptase gamma 1. 9606.ENSP00000234816,ANGPTL1,491,Angiopoietin-related protein 1; Angiopoietin like 1. 9606.ENSP00000234827,TCEANC2,208,Transcription elongation factor A N-terminal and central domain containing 2. 9606.ENSP00000234831,TMEM59,323,"Transmembrane protein 59; Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy. Modulates the O-glycosylation and complex N- glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding ; Belongs to the TMEM59 family." 9606.ENSP00000234961,OPRD1,372,"Delta-type opioid receptor; G-protein coupled receptor that functions as receptor for endogenous enkephalins and for a subset of other opioids. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain and in opiate-mediated analgesia. [...] " 9606.ENSP00000235090,WDR77,342,"Methylosome protein 50; Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones. This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-contain [...] " 9606.ENSP00000235307,C1orf21,121,Uncharacterized protein C1orf21; Chromosome 1 open reading frame 21. 9606.ENSP00000235310,MAD2L2,211,"Mitotic spindle assembly checkpoint protein MAD2B; Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks [...] " 9606.ENSP00000235332,MIIP,388,Migration and invasion-inhibitory protein; Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion. 9606.ENSP00000235345,SLC35D1,355,"UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N- acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen. Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity)." 9606.ENSP00000235347,PRAMEF10,474,PRAME family member 10; Belongs to the PRAME family. 9606.ENSP00000235349,PRAMEF4,478,PRAME family member 4; Belongs to the PRAME family. 9606.ENSP00000235372,PRDM2,1718,PR domain zinc finger protein 2; S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA- responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. 9606.ENSP00000235382,RGS2,211,"Regulator of G-protein signaling 2; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP- bound form. It is involved in the negative regulation of the angiotensin-activated signaling pathway. Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, the [...] " 9606.ENSP00000235521,WARS2,360,"Tryptophan--tRNA ligase, mitochondrial; Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis." 9606.ENSP00000235628,NT5C1A,368,Cytosolic 5'-nucleotidase 1A; Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia. 9606.ENSP00000235835,AKR7A2,359,"Aflatoxin B1 aldehyde reductase member 2; Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2- aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10- phenanthrenequinone (in vitro). Can reduce the dialdehyde protein- binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in prote [...] " 9606.ENSP00000236040,P3H1,804,"Prolyl 3-hydroxylase 1; Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts." 9606.ENSP00000236137,SLC19A2,497,Thiamine transporter 1; High-affinity transporter for the intake of thiamine. 9606.ENSP00000236192,VAMP4,141,Vesicle-associated membrane protein 4; Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule. 9606.ENSP00000236273,SYF2,243,Pre-mRNA-splicing factor SYF2; Involved in pre-mRNA splicing as component of the spliceosome. Belongs to the SYF2 family. 9606.ENSP00000236495,SLC5A9,706,"Sodium/glucose cotransporter 4; Involved in sodium-dependent transport of D-mannose, D- glucose and D-fructose; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family." 9606.ENSP00000236671,CTSD,412,Cathepsin D heavy chain; Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease. 9606.ENSP00000236709,A4GNT,340,"Alpha-1,4-N-acetylglucosaminyltransferase; Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct. May protect against inflammation-associated gastric adenocarcinomas (By similarity)." 9606.ENSP00000236826,MMP8,467,"Neutrophil collagenase; Can degrade fibrillar type I, II, and III collagens; Belongs to the peptidase M10A family." 9606.ENSP00000236850,APOA1,267,"Truncated apolipoprotein A-I; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility." 9606.ENSP00000236877,SLC8A2,921,"Sodium/calcium exchanger 2; Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion. Belongs to the Ca(2+):cation antiporter (CaCA) (TC [...] " 9606.ENSP00000236925,CAMSAP2,1489,"Calmodulin-regulated spectrin-associated protein 2; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus- ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization. Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. In addition, it also reduces the velocity of microtubul [...] " 9606.ENSP00000236959,ATIC,592,"Bifunctional purine biosynthesis protein PURH, N-terminally processed; Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis; Belongs to the PurH family." 9606.ENSP00000236979,TNP1,55,"Spermatid nuclear transition protein 1; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction. Belongs to the nuclear transition protein 1 family." 9606.ENSP00000237014,TTR,147,Transthyretin; Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. 9606.ENSP00000237163,DOP1A,2476,Protein dopey-1; May be involved in protein traffic between late Golgi and early endosomes; Belongs to the dopey family. 9606.ENSP00000237172,FILIP1,1213,"Filamin-A-interacting protein 1; By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A." 9606.ENSP00000237201,SPACA1,294,Sperm acrosome membrane-associated protein 1; Plays a role in acrosome expansion and establishment of normal sperm morphology during spermatogenesis (By similarity). Important for male fertility. 9606.ENSP00000237264,TBPL1,186,TATA box-binding protein-like protein 1; Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box. 9606.ENSP00000237275,ZC2HC1B,222,Zinc finger C2HC-type containing 1B; Belongs to the ZC2HC1 family. 9606.ENSP00000237281,FBXO30,745,F-box only protein 30; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation. 9606.ENSP00000237283,ADAT2,191,tRNA-specific adenosine deaminase 2; Probably participates in deamination of adenosine-34 to inosine in many tRNAs. 9606.ENSP00000237353,PMFBP1,1007,"Polyamine-modulated factor 1-binding protein 1; Required for normal spermatogenesis. It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity. May also be involved in the general organization of cellular cytoskeleton (By similarity)." 9606.ENSP00000237380,MED28,178,"Mediator of RNA polymerase II transcription subunit 28; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex [...] " 9606.ENSP00000237455,RNF103,685,"E3 ubiquitin-protein ligase RNF103; Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway." 9606.ENSP00000237530,RPN2,631,"Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the en [...] " 9606.ENSP00000237536,SOGA1,1661,C-terminal 80 kDa form; Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner. Belongs to the SOGA family. 9606.ENSP00000237596,PKD2,968,"Polycystin-2; Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B. Can also form a functional, homotetrameric ion channel. Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum. Together with TRPV4, forms mech [...] " 9606.ENSP00000237642,STBD1,358,"Starch-binding domain-containing protein 1; Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes." 9606.ENSP00000237654,CCNI,377,Cyclin-I; Cyclin I; Belongs to the cyclin family. 9606.ENSP00000237696,RARRES1,294,"Retinoic acid receptor responder protein 1; Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle." 9606.ENSP00000237822,LDAH,325,"Lipid droplet-associated hydrolase; Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages; Belongs to the AB hydrolase superfamily. LDAH family." 9606.ENSP00000237837,FGF23,251,Fibroblast growth factor 23 C-terminal peptide; Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization. 9606.ENSP00000237853,ELL2,640,"RNA polymerase II elongation factor ELL2; Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exo [...] " 9606.ENSP00000238018,GDA,471,"Guanine deaminase; Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia; Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family." 9606.ENSP00000238044,ECRG4,148,"Augurin; Probable hormone that may attenuate cell proliferation and induce senescence of oligodendrocyte and neural precursor cells in the central nervous system (By similarity). ECRG4-induced senescence is characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation (By similarity)." 9606.ENSP00000238112,CPSF3,684,"Cleavage and polyadenylation specificity factor subunit 3; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3'- end-processing endonuclease. Also involved in the histone 3'-end pre- mRNA processing. U7 snRNP-dependent protein that induces both the 3'- endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' [...] " 9606.ENSP00000238146,DDX55,600,ATP-dependent RNA helicase DDX55; Probable ATP-binding RNA helicase. 9606.ENSP00000238156,CCDC92,331,Coiled-coil domain containing 92. 9606.ENSP00000238379,HDHD3,251,Haloacid dehalogenase like hydrolase domain containing 3. 9606.ENSP00000238497,VPS4B,444,"Vacuolar protein sorting-associated protein 4B; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth fact [...] " 9606.ENSP00000238508,SERPINB10,397,Serpin B10; Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus. 9606.ENSP00000238558,GSC,257,"Homeobox protein goosecoid; Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals." 9606.ENSP00000238561,ADCK1,523,"AarF domain-containing protein kinase 1; Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase- independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT. The action of this enzyme is not yet clear (Probable). It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable)." 9606.ENSP00000238609,IFI27L2,130,Interferon alpha-inducible protein 27-like protein 2; Plays a role in the apoptotic process and has a pro-apoptotic activity. 9606.ENSP00000238616,NEK9,979,"Serine/threonine-protein kinase Nek9; Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr- 97 respectively." 9606.ENSP00000238628,IFT43,213,"Intraflagellar transport protein 43 homolog; As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs), it is involved in ciliogenesis. Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base." 9606.ENSP00000238647,IRF2BPL,796,"Probable E3 ubiquitin-protein ligase IRF2BPL; Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins. Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway. Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (B [...] " 9606.ENSP00000238651,ACOT2,483,"Acyl-coenzyme A thioesterase 2, mitochondrial; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Acyl-coenzyme A thioesterase 2/ACOT2 displays higher activity toward long chain acyl CoAs (C14-C20). The enzyme is involved in enhancing the hepatic fatty acid oxidation in mitochondria (By similarity). Belongs to the C/M/P thioester hydrolase family." 9606.ENSP00000238667,FLVCR2,526,"Feline leukemia virus subgroup C receptor-related protein 2; Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism." 9606.ENSP00000238682,TGFB3,412,"Transforming growth factor beta-3 proprotein; Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi appa [...] " 9606.ENSP00000238714,PAPOLG,736,"Poly(A) polymerase gamma; Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA." 9606.ENSP00000238721,TP53I3,332,"Quinone oxidoreductase PIG3; May be involved in the generation of reactive oxygen species (ROS). Has low NADPH-dependent beta-naphthoquinone reductase activity, with a preference for 1,2-beta-naphthoquinone over 1,4-beta- naphthoquinone. Has low NADPH-dependent diamine reductase activity (in vitro)." 9606.ENSP00000238738,RHOQ,205,"Rho-related GTP-binding protein RhoQ; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia." 9606.ENSP00000238788,TMEM214,689,"Transmembrane protein 214; Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress; Belongs to the TMEM214 family." 9606.ENSP00000238789,ATAD2B,1458,ATPase family AAA domain containing 2B. 9606.ENSP00000238823,FAM98A,518,Protein FAM98A; Positively stimulates PRMT1-induced protein arginine methylation. Involved in skeletal homeostasis (By similarity). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). Promotes colorectal cancer cell malignancy. Belongs to the FAM98 family. 9606.ENSP00000238831,YIPF4,244,Protein YIPF4; Involved in the maintenance of the Golgi structure. Belongs to the YIP1 family. 9606.ENSP00000238855,AFTPH,936,Aftiphilin; May play a role in membrane trafficking. 9606.ENSP00000238875,LGALSL,172,"Galectin-related protein; Does not bind lactose, and may not bind carbohydrates." 9606.ENSP00000238892,CRIPT,101,Cysteine-rich PDZ-binding protein; Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses. 9606.ENSP00000238936,MFSD13A,517,Transmembrane protein 180; Major facilitator superfamily domain containing 13A. 9606.ENSP00000238994,PPP1R3C,317,"Protein phosphatase 1 regulatory subunit 3C; Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types." 9606.ENSP00000239032,PRLHR,370,"Prolactin-releasing peptide receptor; Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000239144,HOXB8,243,Homeobox protein Hox-B8; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000239151,HOXB5,269,Homeobox protein Hox-B5; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000239165,HOXB7,217,Homeobox protein Hox-B7; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000239223,DUSP1,367,"Dual specificity protein phosphatase 1; Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle." 9606.ENSP00000239231,PANK3,370,Pantothenate kinase 3; Plays a role in the physiological regulation of coenzyme A (CoA) levels; Belongs to the type II pantothenate kinase family. 9606.ENSP00000239243,MSX2,267,"Homeobox protein MSX-2; Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter; Belongs to the Msh homeobox family." 9606.ENSP00000239316,INSL4,139,Early placenta insulin-like peptide A chain; May play an important role in trophoblast development and in the regulation of bone formation; Belongs to the insulin family. 9606.ENSP00000239347,IFNA7,189,"Interferon alpha-7; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000239367,LRP11,500,Low-density lipoprotein receptor-related protein 11; LDL receptor related protein 11; Belongs to the LDLR family. 9606.ENSP00000239374,CCDC170,715,Coiled-coil domain containing 170. 9606.ENSP00000239440,ARAP3,1544,"Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase- activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin." 9606.ENSP00000239444,PCDHB8,801,"Protocadherin beta-8; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain." 9606.ENSP00000239446,PCDHB10,800,Protocadherin beta-10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000239449,PCDHB14,798,Protocadherin beta-14; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000239450,PCDHB12,795,Protocadherin beta-12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000239451,SLC25A2,301,"Mitochondrial ornithine transporter 2; Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix; Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000239461,PRRX1,245,Paired mesoderm homeobox protein 1; Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity); Belongs to the paired homeobox family. 9606.ENSP00000239462,TNN,1299,"Tenascin-N; Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1 (By similarity). Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling (By similarity). In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells. Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells. ECO:0 [...] " 9606.ENSP00000239587,TTLL2,592,Probable tubulin polyglutamylase TTLL2; Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity); Belongs to the tubulin--tyrosine ligase family. 9606.ENSP00000239666,PDZD11,140,PDZ domain-containing protein 11; Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10- binding protein TSPAN33. 9606.ENSP00000239690,NUDCD1,583,NudC domain containing 1. 9606.ENSP00000239830,CCDC77,488,Coiled-coil domain containing 77. 9606.ENSP00000239882,ELF1,619,ETS-related transcription factor Elf-1; Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer; Belongs to the ETS family. 9606.ENSP00000239891,ALG5,324,ALG5 dolichyl-phosphate beta-glucosyltransferase. 9606.ENSP00000239906,FAM53C,392,Protein FAM53C; Family with sequence similarity 53 member C. 9606.ENSP00000239926,MYOT,498,Myotilin; Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells; Belongs to the myotilin/palladin family. 9606.ENSP00000239938,EGR1,543,"Early growth response protein 1; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylation status. Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor forma [...] " 9606.ENSP00000239940,PFN2,140,"Profilin-2; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG." 9606.ENSP00000240055,NFYB,207,"Nuclear transcription factor Y subunit beta; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors; Belongs to the NFYB/HAP3 subunit family." 9606.ENSP00000240079,WASHC3,194,"WASH complex subunit 3; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting ; Belongs to the CCDC53 family." 9606.ENSP00000240093,FZD3,666,"Frizzled-3; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to i [...] " 9606.ENSP00000240100,DUSP4,394,Dual specificity protein phosphatase 4; Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily. 9606.ENSP00000240123,SORBS3,671,Vinexin; Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain. 9606.ENSP00000240185,TARDBP,414,"TAR DNA-binding protein 43; RNA-binding protein that is involved in various steps of RNA biogenesis and processing. Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs. In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases. Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondria [...] " 9606.ENSP00000240189,PRAMEF2,474,PRAME family member 2; Belongs to the PRAME family. 9606.ENSP00000240285,RDH10,341,"Retinol dehydrogenase 10; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol." 9606.ENSP00000240306,DLX4,240,"Homeobox protein DLX-4; May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis; Belongs to the distal-less homeobox family." 9606.ENSP00000240316,COIL,576,"Coilin; Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs; Belongs to the coilin family." 9606.ENSP00000240328,TBX2,712,T-box transcription factor TBX2; Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation. 9606.ENSP00000240361,TEX14,1497,"Inactive serine/threonine-protein kinase TEX14; Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodie [...] " 9606.ENSP00000240364,FAM117A,453,Protein FAM117A; Family with sequence similarity 117 member A. 9606.ENSP00000240423,NCAPH,741,"Condensin complex subunit 2; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size. Belongs to the CND2 (condensin s [...] " 9606.ENSP00000240488,MND1,205,"Meiotic nuclear division protein 1 homolog; Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis (By similarity). Stimulates both DMC1- and RAD51-mediated homologous strand assimilation, which is required for the resolution of meiotic double- strand breaks." 9606.ENSP00000240499,ZNF141,474,Zinc finger protein 141; May be involved in transcriptional regulation as a repressor. Plays a role in limb development; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000240587,TSHZ3,1081,"Teashirt homolog 3; Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway func [...] " 9606.ENSP00000240615,TAS2R8,309,"Taste receptor type 2 member 8; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000240617,PLBD1,553,"Phospholipase B-like 1 chain A; In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids." 9606.ENSP00000240618,KLRK1,216,"NKG2-D type II integral membrane protein; Functions as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress- inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-exp [...] " 9606.ENSP00000240619,TAS2R10,307,Taste receptor type 2 member 10; Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. 9606.ENSP00000240651,PYROXD1,500,Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response. Required for normal sarcomere structure and muscle fiber integrity (By similarity). 9606.ENSP00000240652,IAPP,89,"Islet amyloid polypeptide; Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism; Belongs to the calcitonin family." 9606.ENSP00000240687,TAS2R7,318,Taste receptor type 2 member 7; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. 9606.ENSP00000240691,TAS2R9,312,Taste receptor type 2 member 9; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity). 9606.ENSP00000240851,TFG,400,Protein TFG; Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. 9606.ENSP00000240874,KALRN,1663,"Kalirin; Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family." 9606.ENSP00000240922,NAA50,169,"N-alpha-acetyltransferase 50; N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine. Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position. Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins. Autoacetylates in vivo. The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo. [...] " 9606.ENSP00000241014,MAPK8IP1,711,"C-Jun-amino-terminal kinase-interacting protein 1; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. A [...] " 9606.ENSP00000241041,PEX16,346,"Peroxisomal membrane protein PEX16; Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. Belongs to the peroxin-16 family." 9606.ENSP00000241051,DEPDC7,511,DEP domain containing 7; Belongs to the DEPDC7 family. 9606.ENSP00000241052,CAT,527,"Catalase; Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells." 9606.ENSP00000241125,GJA3,435,"Gap junction alpha-3 protein; Structural component of lens fiber gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore ; Belongs to the connexin family. Alpha-type (group II) subfamily." 9606.ENSP00000241256,GHSR,366,"Growth hormone secretagogue receptor type 1; Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK- 0677, adenosine)." 9606.ENSP00000241261,TNFSF10,281,"Tumor necrosis factor ligand superfamily member 10; Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG. Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis. Belongs to the tumor necrosis factor family." 9606.ENSP00000241305,CPXM2,756,Inactive carboxypeptidase-like protein X2; May be involved in cell-cell interactions; Belongs to the peptidase M14 family. 9606.ENSP00000241337,GSTM2,218,Glutathione S-transferase Mu 2; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 9606.ENSP00000241356,ADORA3,318,Adenosine receptor A3; [Isoform 2]: Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase ; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000241416,ACVR2A,513,"Activin receptor type-2A; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity)." 9606.ENSP00000241436,POLK,870,"DNA polymerase kappa; DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Belongs to the DNA polymerase type-Y family." 9606.ENSP00000241453,FLT3,993,"Receptor-type tyrosine-protein kinase FLT3; Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only m [...] " 9606.ENSP00000241463,RASL11A,242,Ras-like protein family member 11A; Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (By similarity); Belongs to the small GTPase superfamily. Ras family. 9606.ENSP00000241502,FYTTD1,318,UAP56-interacting factor; Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4. 9606.ENSP00000241651,MYOG,224,"Myogenin; Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber muscle differentiation. However is dispensable for postnatal skeletal muscle growth; phosphorylation by CAMK2G inhibits its transcriptional activity in respons to muscle activity. Required for the recruitment of the FACT complex to muscle-specific promoter regions, thus promoting gene expression initiation. During terminal myoblast dif [...] " 9606.ENSP00000242057,AHR,848,Aryl hydrocarbon receptor; Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues. Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1. Inhibits PER1 by repressing [...] 9606.ENSP00000242067,BBS9,887,"Protein PTHB1; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF [...] " 9606.ENSP00000242104,OCM,109,Oncomodulin-1; Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions; Belongs to the parvalbumin family. 9606.ENSP00000242108,EEPD1,569,Endonuclease/exonuclease/phosphatase family domain containing 1. 9606.ENSP00000242140,WIPF3,483,WAS/WASL-interacting protein family member 3; May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity); Belongs to the verprolin family. 9606.ENSP00000242159,HOXA7,230,Homeobox protein Hox-A7; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. 9606.ENSP00000242208,INHBA,426,"Inhibin beta A chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Belongs to the TGF-beta family." 9606.ENSP00000242249,RAMP3,148,Receptor activity-modifying protein 3; Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner. Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) and GPER1 to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. 9606.ENSP00000242257,MRM2,246,"rRNA methyltransferase 2, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family." 9606.ENSP00000242261,TWIST1,202,"Twist-related protein 1; Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN w [...] " 9606.ENSP00000242285,CLTA,248,Clathrin light chain A; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Acts as component of the TACC3/ch- TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter- microtubule bridge. 9606.ENSP00000242315,PHF24,400,PHD finger protein 24. 9606.ENSP00000242351,ZC3HAV1,902,"Zinc finger CCCH-type antiviral protein 1; Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3'-5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the [...] " 9606.ENSP00000242375,AKR1D1,326,"Aldo-keto reductase family 1 member D1; Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta- hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3- one). Belongs to the aldo/keto reductase family." 9606.ENSP00000242462,NEUROG3,214,"Neurogenin-3; Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity)." 9606.ENSP00000242465,SRGN,158,Serglycin; Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule- mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF-alpha and may also r [...] 9606.ENSP00000242480,EGR2,476,E3 SUMO-protein ligase EGR2; Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4. Belongs to the EGR C2H2-type zinc-finger protein family. 9606.ENSP00000242505,FAM149B1,582,Protein FAM149B1; Family with sequence similarity 149 member B1. 9606.ENSP00000242576,UNG,313,Uracil-DNA glycosylase; Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. 9606.ENSP00000242591,IFT81,676,"Intraflagellar transport protein 81 homolog; Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis. Required for proper regulation of SHH signaling. Belongs to the IFT81 family." 9606.ENSP00000242592,ACADS,412,"Short-chain specific acyl-CoA dehydrogenase, mitochondrial; Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl- CoA (By similarity). Among the different mitochondrial ac [...] " 9606.ENSP00000242719,RNF11,154,"RING finger protein 11; Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of TNFAIP3 to RIPK1 after TNF stimulation. TNFAIP3 deubiquitinates 'Lys- 63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys- 48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Recruits STAMBP to the E3 ubiquitin-ligase SMURF2 for ubiquitination, lea [...] " 9606.ENSP00000242728,BHLHE41,482,Class E basic helix-loop-helix protein 41; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodime [...] 9606.ENSP00000242729,SSPN,243,"Sarcospan; Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC." 9606.ENSP00000242776,DDX39A,427,ATP-dependent RNA helicase DDX39A; [Isoform 1]: Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus; Belongs to the DEAD box helicase family. DECD subfamily. 9606.ENSP00000242784,TRIR,176,Telomerase RNA component interacting RNase; Exoribonuclease that is part of the telomerase RNA 3' end processing complex and which has the ability to all four unpaired RNA nucleotides from 5' end or 3' end with higher efficiency for purine bases. 9606.ENSP00000242786,ADGRE5,835,CD97 antigen subunit alpha; Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity); Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. 9606.ENSP00000242804,ZNF442,627,Zinc finger protein 442; May be involved in transcriptional regulation. 9606.ENSP00000242819,CCDC70,233,Coiled-coil domain containing 70. 9606.ENSP00000242827,EBPL,206,Emopamil-binding protein-like; Does not possess sterol isomerase activity and does not bind sigma ligands. 9606.ENSP00000242839,ATP7B,1465,"Copper-transporting ATPase 2; Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily." 9606.ENSP00000242848,ZC3H13,1668,"Zinc finger CCCH domain-containing protein 13; Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3'-UTR (By similarity). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (By similarity). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (By similarity). Also required for bridging WTAP to the RN [...] " 9606.ENSP00000242994,NEUROD4,331,Neurogenic differentiation factor 4; Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity). 9606.ENSP00000243045,ORMDL2,153,ORM1-like protein 2; Negative regulator of sphingolipid synthesis. 9606.ENSP00000243052,PDE1B,536,"Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a preference for cGMP as a substrate." 9606.ENSP00000243056,HOXC13,330,Homeobox protein Hox-C13; Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair- specific genes (By similarity); Belongs to the Abd-B homeobox family. 9606.ENSP00000243077,LRP1,4544,"Low-density lipoprotein receptor-related protein 1 intracellular domain; Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2- macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotr [...] " 9606.ENSP00000243103,HOXC12,282,Homeobox protein Hox-C12; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family. 9606.ENSP00000243108,HOXC6,235,Homeobox protein Hox-C6; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000243167,FAAH,579,"Fatty-acid amide hydrolase 1; Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. Belongs to the amidase family." 9606.ENSP00000243189,RSRP1,290,Arginine and serine rich protein 1. 9606.ENSP00000243253,SEC61A1,476,"Protein transport protein Sec61 subunit alpha isoform 1; Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides. May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins. Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC6 [...] " 9606.ENSP00000243298,RAB9B,201,Ras-related protein Rab-9B; Involved in the transport of proteins between the endosomes and the trans Golgi network; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000243314,MAGEA9,315,"Melanoma-associated antigen 9; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression." 9606.ENSP00000243326,RIF1,2472,"Telomere-associated protein RIF1; Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs. In response to DNA damage, interacts with ATM-phosphorylated TP53BP1. Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs. Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs. In the s [...] " 9606.ENSP00000243344,TTC21B,1316,"Tetratricopeptide repeat protein 21B; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs). Essential for retrograde trafficking of IFT- 1, IFT-B and GPCRs. Negatively modulates the SHH signal transduction (By similarity); Belongs to the TTC21 family." 9606.ENSP00000243346,NMI,307,N-myc-interactor; May be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. Augments cytokine-mediated STAT transcription. Enhances CBP/p300 coactivator protein recruitment to STAT1 and STAT5; Belongs to the NMI family. 9606.ENSP00000243347,TNFAIP6,277,Tumor necrosis factor-inducible gene 6 protein; Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis. 9606.ENSP00000243349,ACVR1C,493,"Activin receptor type-1C; Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis." 9606.ENSP00000243389,SLC36A1,476,"Proton-coupled amino acid transporter 1; Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity)." 9606.ENSP00000243440,BATF3,127,Basic leucine zipper transcriptional factor ATF-like 3; AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross- present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes. Belongs [...] 9606.ENSP00000243457,KCNJ2,427,"Inward rectifier potassium channel 2; Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be bl [...] " 9606.ENSP00000243501,PLA2G12A,189,Group XIIA secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine. 9606.ENSP00000243563,SNRPA,282,"U1 small nuclear ribonucleoprotein A; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs; Belongs to the RRM U1 A/B'' family." 9606.ENSP00000243578,B9D2,175,"B9 domain-containing protein 2; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes; Belongs to the B9D family." 9606.ENSP00000243611,C4BPB,252,"C4b-binding protein beta chain; Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S." 9606.ENSP00000243644,ZNF350,532,"Zinc finger protein 350; Transcriptional repressor. Binds to a specific sequence, 5'- GGGxxxCAGxxxTTT-3', within GADD45 intron 3." 9606.ENSP00000243662,RAB38,211,"Ras-related protein Rab-38; May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays an important role in the control of melanin production and melanosome biogenesis. In concert with RAB32, regulates the proper trafficking of melanogenic enzyme [...] " 9606.ENSP00000243673,GPR83,423,Probable G-protein coupled receptor 83; Orphan receptor. Could be a neuropeptide Y receptor. 9606.ENSP00000243706,HAUS3,603,"HAUS augmin-like complex subunit 3; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex." 9606.ENSP00000243776,CHPF,775,"Chondroitin sulfate synthase 2; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress." 9606.ENSP00000243786,INHA,366,"Inhibin alpha chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Belongs to the TGF-beta family." 9606.ENSP00000243878,ENKD1,346,Enkurin domain containing 1. 9606.ENSP00000243903,ACTR5,607,"Actin-related protein 5; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair. Belongs to the actin family. ARP5 subfamily." 9606.ENSP00000243911,MC3R,323,"Melanocortin receptor 3; Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain." 9606.ENSP00000243918,SYS1,156,Protein SYS1 homolog; Involved in protein trafficking. May serve as a receptor for ARFRP1; Belongs to the SYS1 family. 9606.ENSP00000243924,PI3,117,Elafin; Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Has been shown to inhibit the alpha-4-beta-2/CHRNA2-CHRNB2 nicotinic acetylcholine receptor and to produce a weak inhibition on Kv11.1/KCNH2/ERG1 and on the transient receptor potential cation channel subfamily V member 1 (TRPV1). 9606.ENSP00000243938,WFDC3,231,WAP four-disulfide core domain 3. 9606.ENSP00000243997,ATP5F1E,51,"ATP synthase subunit epsilon, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of th [...] " 9606.ENSP00000244007,PLCG1,1291,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration." 9606.ENSP00000244020,SRSF6,344,Serine/arginine-rich splicing factor 6; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre- mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing. Belongs to the splicing factor SR family. 9606.ENSP00000244040,RAB22A,194,"Ras-related protein Rab-22A; Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes. Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth. Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form. Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000244043,PTGIS,500,Prostacyclin synthase; Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2). 9606.ENSP00000244050,SNAI1,264,"Zinc finger protein SNAI1; Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription. The N- terminal SNAG domain competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, a [...] " 9606.ENSP00000244051,MOCS3,460,"Adenylyltransferase and sulfurtransferase MOCS3; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl- adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (- COSH) of their C-terminus. The reaction probably involves hydrogen sulfide [...] " 9606.ENSP00000244061,RNF114,228,"E3 ubiquitin-protein ligase RNF114; E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates. In turn, participates in the regulation of many biological processes including cell cycle, apoptosis, osteoclastogenesis as well as innate or adaptive immunity. Acts as negative regulator of NF-kappa-B-dependent transcription by promoting the ubiquitination and stabilization of the NF-kappa-B inhibitor TNFAIP3. May promote the ubiquitination of TRAF6 as well. Acts also as a negative regulator of T-cell activation. Inhibits cellular dsRNA responses and interferon produ [...] " 9606.ENSP00000244096,MAGEA10,369,"Melanoma-associated antigen 10; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression." 9606.ENSP00000244137,PEPD,493,Xaa-Pro dipeptidase; Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen; Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily. 9606.ENSP00000244174,IL9R,521,Interleukin-9 receptor; This is a receptor for interleukin-9; Belongs to the type I cytokine receptor family. Type 4 subfamily. 9606.ENSP00000244217,MCEE,176,"Methylmalonyl-CoA epimerase, mitochondrial; methylmalonyl-CoA epimerase; Belongs to the methylmalonyl-CoA epimerase family." 9606.ENSP00000244221,PAIP2B,123,Polyadenylate-binding protein-interacting protein 2B; Inhibits translation of capped and polyadenylated mRNAs by displacing PABPC1 from the poly(A) tail; Belongs to the PAIP2 family. 9606.ENSP00000244227,SNRNP27,155,U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein; May play a role in mRNA splicing. 9606.ENSP00000244230,MPHOSPH10,681,U3 small nucleolar ribonucleoprotein protein MPP10; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. 9606.ENSP00000244241,IL17C,197,"Interleukin-17C; Cytokine that plays a crucial role in innate immunity of the epithelium, including to intestinal bacterial pathogens, in an autocrine manner. Stimulates the production of antibacterial peptides and proinflammatory molecules for host defense by signaling through the NF-kappa-B and MAPK pathways. Acts synergically with IL22 in inducing the expression of antibacterial peptides, including S100A8, S100A9, REG3A and REG3G. Synergy is also observed with TNF and IL1B in inducing DEFB2 from keratinocytes. Depending on the type of insult, may have both protective and pathogenic [...] " 9606.ENSP00000244289,LIPE,1076,"Hormone-sensitive lipase; In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production." 9606.ENSP00000244314,IRGC,463,Interferon-inducible GTPase 5; Immunity related GTPase cinema. 9606.ENSP00000244333,LYPD3,346,Ly6/PLAUR domain-containing protein 3; Supports cell migration. May be involved in urothelial cell- matrix interactions. May be involved in tumor progression. 9606.ENSP00000244336,CEACAM8,349,"Carcinoembryonic antigen-related cell adhesion molecule 8; Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner. Mediates heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6. Heterophilic interaction with CEACAM8 occurs in activated neutrophils ; Belongs to the immunoglobulin superfamily. CEA family." 9606.ENSP00000244360,RNF39,420,RING finger protein 39; May play a role in prolonged long term-potentiation (LTP) maintenance. 9606.ENSP00000244426,FBXO9,447,"F-box only protein 9; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of TTI1 and TELO2 in a CK2-dependent manner, thereby directly regulating mTOR signaling. SCF(FBXO9) recognizes and binds mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, the SCF(FBXO9) does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTOR [...] " 9606.ENSP00000244496,RRP36,259,Ribosomal RNA processing protein 36 homolog; Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA. Belongs to the RRP36 family. 9606.ENSP00000244513,BTN1A1,526,"Butyrophilin subfamily 1 member A1; May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity); Belongs to the immunoglobulin superfamily. BTN/MOG family." 9606.ENSP00000244519,BTN3A3,584,Butyrophilin subfamily 3 member A3; Plays a role in T-cell responses in the adaptive immune response; Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000244520,SNRPC,159,"U1 small nuclear ribonucleoprotein C; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region. Belongs to the U1 [...] " 9606.ENSP00000244527,SLC17A1,467,Sodium-dependent phosphate transport protein 1; Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney. 9606.ENSP00000244534,H1-3,221,"Histone H1.3; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity)." 9606.ENSP00000244537,H4C6,103,"Histone H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000244565,UNC5CL,518,UNC5C-like protein; Inhibits NF-kappa-B-dependent transcription by impairing NF- kappa-B binding to its targets; Belongs to the unc-5 family. 9606.ENSP00000244571,AARS2,985,"Alanine--tRNA ligase, mitochondrial; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000244573,H1-1,215,"Histone H1.1; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity)." 9606.ENSP00000244576,ZNF391,358,Zinc finger protein 391; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000244623,OR2B6,313,Olfactory receptor 2B6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000244669,APOBEC2,224,C->U-editing enzyme APOBEC-2; Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. 9606.ENSP00000244709,TREM1,234,"Triggering receptor expressed on myeloid cells 1; Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock." 9606.ENSP00000244728,COL21A1,957,Collagen type XXI alpha 1 chain. 9606.ENSP00000244745,SOX4,474,Transcription factor SOX-4; Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif. 9606.ENSP00000244751,CPNE5,593,Copine-5; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes ; Belongs to the copine family. 9606.ENSP00000244763,SSR1,286,Translocon-associated protein subunit alpha; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins. 9606.ENSP00000244769,ATXN1,815,"Ataxin-1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ- mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. In concert with CIC and ATXN1L, involved in brain development (By similarity)." 9606.ENSP00000244869,EREG,169,"Proepiregulin; Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation. Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation." 9606.ENSP00000244926,SCGB1D2,90,"Secretoglobin family 1D member 2; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones." 9606.ENSP00000244930,SCGB2A1,95,"Mammaglobin-B; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones." 9606.ENSP00000245046,EMC3,261,ER membrane protein complex subunit 3. 9606.ENSP00000245105,SH3TC1,1336,SH3 domain and tetratricopeptide repeats 1. 9606.ENSP00000245121,KATNAL2,466,Katanin p60 ATPase-containing subunit A-like 2; Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays. 9606.ENSP00000245157,BBS2,721,"Bardet-Biedl syndrome 2 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] " 9606.ENSP00000245185,MT2A,61,Metallothionein-2; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family. 9606.ENSP00000245206,GOT2,430,"Aspartate aminotransferase, mitochondrial; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000245255,PIWIL1,861,"Piwi-like protein 1; Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived fr [...] " 9606.ENSP00000245304,RAP2A,183,"Ras-related protein Rap-2a; Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading. Belongs to the small GTPase superfamily. Ras family." 9606.ENSP00000245312,SLC10A2,348,Ileal sodium/bile acid cotransporter; Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. 9606.ENSP00000245414,IRF1,325,"Interferon regulatory factor 1; Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target [...] " 9606.ENSP00000245451,BMP4,408,"Bone morphogenetic protein 4; Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity)." 9606.ENSP00000245457,PTGER2,358,Prostaglandin E2 receptor EP2 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle. 9606.ENSP00000245479,SOX9,509,"Transcription factor SOX-9; Transcriptional regulator that plays a role in chondrocytes differentiation and skeletal development. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity)." 9606.ENSP00000245539,MRPS7,242,Mitochondrial ribosomal protein S7. 9606.ENSP00000245543,ARMC7,198,Armadillo repeat containing 7. 9606.ENSP00000245544,NUP85,656,Nuclear pore complex protein Nup85; Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3- kinase-Rac-lammellipodium protrusion cascade. Inv [...] 9606.ENSP00000245552,NT5C,201,"5'(3')-deoxyribonucleotidase, cytosolic type; Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP." 9606.ENSP00000245564,MSTO1,570,Protein misato homolog 1; Involved in the regulation of mitochondrial distribution and morphology. Required for mitochondrial fusion and mitochondrial network formation. 9606.ENSP00000245615,MBOAT7,472,"Lysophospholipid acyltransferase 7; Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. Mediates the conversion of lysophosphatidylinositol (1- acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2- diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Required for cortical lamination during brain [...] " 9606.ENSP00000245620,LILRB3,632,"Leukocyte immunoglobulin-like receptor subfamily B member 3; May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B-cell activation by recruiting phosphatases to its immunoreceptor tyrosine- based inhibitor motifs (ITIM)." 9606.ENSP00000245680,SLC35F5,523,Solute carrier family 35 member F5; Putative solute transporter; Belongs to the SLC35F solute transporter family. 9606.ENSP00000245787,INSIG2,225,Insulin-induced gene 2 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR. 9606.ENSP00000245796,PSD4,1056,"PH and SEC7 domain-containing protein 4; Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II- containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate." 9606.ENSP00000245810,PSPN,156,Persephin; Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons. 9606.ENSP00000245812,ALKBH7,221,"Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial; May function as protein hydroxylase; can catalyze auto- hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate. Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage. Does [...] " 9606.ENSP00000245816,CLPP,277,"ATP-dependent Clp protease proteolytic subunit, mitochondrial; Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates. Cleaves PINK1 in the mitochondrion." 9606.ENSP00000245817,TNFSF9,254,Tumor necrosis factor ligand superfamily member 9; Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation- induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages; Belongs to the tumor necrosis factor family. 9606.ENSP00000245838,THOC2,1593,"THO complex subunit 2; Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap- dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cy [...] " 9606.ENSP00000245907,C3,1663,"Complement C3c alpha' chain fragment 1; C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates. [C3-beta-c]: Acts as a chemoattractant for neutrophils in chronic inflammation." 9606.ENSP00000245908,SH2D3A,576,SH2 domain-containing protein 3A; May play a role in JNK activation. 9606.ENSP00000245919,FOSB,338,Protein fosB; FosB interacts with Jun proteins enhancing their DNA binding activity. 9606.ENSP00000245923,RTN2,545,Reticulon-2; Reticulon 2. 9606.ENSP00000245932,VASP,380,"Vasodilator-stimulated phosphoprotein; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin-bound actin monomers onto the barbed end [...] " 9606.ENSP00000245934,SYMPK,1274,"Symplekin; Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity." 9606.ENSP00000245957,CFAP61,1237,Cilia- and flagella-associated protein 61; May regulate cilium motility through its role in the assembly of the axonemal radial spokes. 9606.ENSP00000245960,CDC25B,580,M-phase inducer phosphatase 2; Tyrosine protein phosphatase which functions as a dosage- dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2- dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity. 9606.ENSP00000245983,GNRH2,120,GnRH-associated peptide 2; Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones; Belongs to the GnRH family. 9606.ENSP00000246006,CD93,652,"Complement component C1q receptor; Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion." 9606.ENSP00000246012,CST8,142,Cystatin-8; Performs a specialized role during sperm development and maturation. 9606.ENSP00000246024,TMX4,349,Thioredoxin related transmembrane protein 4. 9606.ENSP00000246062,MKKS,570,"McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. Belongs to the TCP-1 chaperonin family." 9606.ENSP00000246069,DSTN,165,Destrin; Actin-depolymerizing protein. Severs actin filaments (F- actin) and binds to actin monomers (G-actin). Acts in a pH-independent manner. 9606.ENSP00000246070,LAMP5,280,Lysosome-associated membrane glycoprotein 5; Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain. 9606.ENSP00000246071,SNRPB2,225,"U2 small nuclear ribonucleoprotein B'; Involved in pre-mRNA splicing as component of the spliceosome. Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA." 9606.ENSP00000246080,TCF15,199,"Transcription factor 15; May function as an early transcriptional regulator, involved in the patterning of the mesoderm and in lineage determination of cell types derived from the mesoderm." 9606.ENSP00000246081,OTOR,128,Otoraplin; Belongs to the MIA/OTOR family. 9606.ENSP00000246104,SCRT2,307,Transcriptional repressor scratch 2; May be involved in transcriptional regulation; Belongs to the snail C2H2-type zinc-finger protein family. 9606.ENSP00000246105,DEFB129,183,Beta-defensin 129; Has antibacterial activity. 9606.ENSP00000246112,TLE6,572,"Transducin-like enhancer protein 6; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the WD repeat Groucho/TLE family." 9606.ENSP00000246115,S1PR4,384,Sphingosine 1-phosphate receptor 4; Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes. 9606.ENSP00000246117,NCLN,563,Nicalin; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning; Belongs to the nicastrin family. 9606.ENSP00000246151,PITHD1,211,PITH domain-containing protein 1; Promotes megakaryocyte differentiation by up-regulating RUNX1 expression. Regulates RUNX1 expression by activating the proximal promoter of the RUNX1 gene and by enhancing the translation activity of an internal ribosome entry site (IRES) element in the RUNX1 gene. 9606.ENSP00000246166,FNTB,437,Protein farnesyltransferase subunit beta; Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. 9606.ENSP00000246186,MMP24,645,"Processed matrix metalloproteinase-24; Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence. Involved in cell-cell interactions between nociceptive neurites and mast cells, possibly by mediating cleavage of CDH2, thereby acting as a mediator of peripheral thermal nociception and inflammatory hyperalgesia. Key regulator of neural stem cells quiescence by mediating cleavage of CDH2, affecting CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to m [...] " 9606.ENSP00000246190,NECAB3,396,"N-terminal EF-hand calcium-binding protein 3; Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid-beta. May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3." 9606.ENSP00000246194,RALY,306,RNA-binding protein Raly; RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver. Binds the lipid- responsive non-coding RNA LeXis and is required for LeXis-mediated effect on cholesterogenesis (By similarity). May be a heterogeneous nuclear ribonucleoprotein (hnRNP). 9606.ENSP00000246229,PLAGL2,496,Zinc finger protein PLAGL2; Shows weak transcriptional activatory activity; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000246337,UROD,367,Uroporphyrinogen decarboxylase; Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III. 9606.ENSP00000246515,SLURP1,103,Secreted Ly-6/uPAR-related protein 1; Has an antitumor activity. Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin. In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner. In T cells may be involved in regulation of intracellular Ca(2+) signaling. Seems to have an immunomodulatory functi [...] 9606.ENSP00000246529,LRFN3,628,Leucine-rich repeat and fibronectin type-III domain-containing protein 3; Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity). 9606.ENSP00000246532,IGFLR1,355,IGF-like family receptor 1; Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2. 9606.ENSP00000246535,PDCD2L,358,"Programmed cell death protein 2-like; Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase." 9606.ENSP00000246548,UBA2,640,"SUMO-activating enzyme subunit 2; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2." 9606.ENSP00000246551,HCST,93,"Hematopoietic cell signal transducer; Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain- related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST trigg [...] " 9606.ENSP00000246553,FFAR1,300,"Free fatty acid receptor 1; G-protein coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose-stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G-proteins that activate phospholipase C, leading to an increase of the [...] " 9606.ENSP00000246635,KRT13,458,"Keratin, type I cytoskeletal 13; Keratin 13." 9606.ENSP00000246646,KRT38,456,"Keratin, type I cuticular Ha8; Keratin 38; Belongs to the intermediate filament family." 9606.ENSP00000246657,CCR7,378,C-C chemokine receptor type 7; Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000246662,KRT9,623,"Keratin, type I cytoskeletal 9; May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. Belongs to the intermediate filament family." 9606.ENSP00000246672,NR1D1,614,"Nuclear receptor subfamily 1 group D member 1; Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARTNL/BMAL1, CLOCK and CRY1. Also regulates genes involved in metabolic functions, including lipid and bile acid metabolism, adipogenesis, gluconeogenesis and the macrophage inflammatory response. Acts as a receptor for [...] " 9606.ENSP00000246747,ARL2,184,"ADP-ribosylation factor-like protein 2; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the ef [...] " 9606.ENSP00000246792,RRAS,218,"Ras-related protein R-Ras; Regulates the organization of the actin cytoskeleton. With OSPBL3, modulates integrin beta-1 (ITGB1) activity." 9606.ENSP00000246794,PRRG2,202,Transmembrane gamma-carboxyglutamic acid protein 2; Proline rich and Gla domain 2. 9606.ENSP00000246801,TSKS,592,"Testis-specific serine kinase substrate; May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development." 9606.ENSP00000246802,NOP53,478,"Ribosome biogenesis protein NOP53; Nucleolar protein which is involved in the integration of the 5S RNP into the ribosomal large subunit during ribosome biogenesis. In ribosome biogenesis, may also play a role in rRNA transcription. Also functions as a nucleolar sensor that regulates the activation of p53/TP53 in response to ribosome biogenesis perturbation, DNA damage and other stress conditions. DNA damage or perturbation of ribosome biogenesis disrupt the interaction between NOP53 and RPL11 allowing RPL11 transport to the nucleoplasm where it can inhibit MDM2 and allow p53/TP53 acti [...] " 9606.ENSP00000246841,FLRT1,674,Leucine-rich repeat transmembrane protein FLRT1; Plays a role in fibroblast growth factor-mediated signaling cascades that lead to the activation of MAP kinases. Promotes neurite outgrowth via FGFR1-mediated activation of downstream MAP kinases. Promotes an increase both in neurite number and in neurite length. May play a role in cell-cell adhesion and cell guidance via its interaction with ADGRL1/LPHN1 and ADGRL3. 9606.ENSP00000246868,SBDS,250,"Ribosome maturation protein SBDS; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prolifer [...] " 9606.ENSP00000246891,CSN1S1,185,Alpha-S1-casein; Important role in the capacity of milk to transport calcium phosphate; Belongs to the alpha-casein family. 9606.ENSP00000246895,STATH,62,Statherin; Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface. 9606.ENSP00000246912,MLX,298,"Max-like protein X; Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5'-CACGTG-3'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation." 9606.ENSP00000246914,WNK4,1243,"Serine/threonine-protein kinase WNK4; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-in [...] " 9606.ENSP00000246957,TRAP1,704,"Heat shock protein 75 kDa, mitochondrial; Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA; Belongs to the heat shock protein 90 family." 9606.ENSP00000247001,SUGP1,645,SURP and G-patch domain-containing protein 1; Plays a role in pre-mRNA splicing. 9606.ENSP00000247003,DDX49,483,Probable ATP-dependent RNA helicase DDX49; DEAD-box helicase 49; Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily. 9606.ENSP00000247005,GDF1,372,Embryonic growth/differentiation factor 1; May mediate cell differentiation events during embryonic development. 9606.ENSP00000247020,SDF2,211,Stromal cell derived factor 2. 9606.ENSP00000247026,NSRP1,558,Nuclear speckle splicing regulatory protein 1; RNA-binding protein that mediates pre-mRNA alternative splicing regulation. 9606.ENSP00000247153,CFP,469,Properdin; A positive regulator of the alternate pathway (AP) of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes. Inhibits CFI-CFH mediated degradation of Complement C3 beta chain (C3b). 9606.ENSP00000247178,ATG14,492,"Beclin 1-associated autophagy-related key regulator; Required for both basal and inducible autophagy. Determines the localization of the autophagy-specific PI3-kinase complex PI3KC3-C1. Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine. Promotes BECN1 translocation from the trans-Golgi network to autophagosomes. Enhances PIK3C3 activity in a BECN1-dependent manner. Essential for the autophagy-dependent phosphorylation of BECN1. Stimulates the phosphorylation of BECN1, but suppresses the phosphorylation PIK3C3 by AMPK. Binds to STX17-SNAP29 [...] " 9606.ENSP00000247191,DLGAP5,846,Disks large-associated protein 5; Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells. 9606.ENSP00000247194,L3HYPDH,354,Trans-3-hydroxy-L-proline dehydratase; Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it. 9606.ENSP00000247219,TBPL2,375,TATA box-binding protein-like protein 2; Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity); Belongs to the TBP family. 9606.ENSP00000247225,SGPP1,441,"Sphingosine-1-phosphate phosphatase 1; Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid. Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway. Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger. Involved in efficient ceramide syn [...] " 9606.ENSP00000247226,PLEKHG3,1219,Pleckstrin homology and RhoGEF domain containing G3. 9606.ENSP00000247270,EVI2A,259,"Protein EVI2A; May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor." 9606.ENSP00000247271,OMG,440,Oligodendrocyte-myelin glycoprotein; Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system. 9606.ENSP00000247306,CTAG2,210,Cancer/testis antigen 2; Belongs to the CTAG/PCC1 family. 9606.ENSP00000247461,CANX,592,"Calnexin; Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at t [...] " 9606.ENSP00000247470,PYCARD,195,"Apoptosis-associated speck-like protein containing a CARD; Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8- dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase- 9, -2 and -3. Involved in macrophage pyroptosis, a cas [...] " 9606.ENSP00000247665,PHPT1,125,14 kDa phosphohistidine phosphatase; Exhibits phosphohistidine phosphatase activity. Belongs to the janus family. 9606.ENSP00000247668,TRAF2,501,"TNF receptor-associated factor 2; Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'-linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels [...] " 9606.ENSP00000247706,ABHD8,439,Protein ABHD8; Abhydrolase domain containing 8; Belongs to the AB hydrolase superfamily. 9606.ENSP00000247815,HELB,1087,"DNA helicase B; 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection. Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB. As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation. Acts independently of TP53BP1. Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP [...] " 9606.ENSP00000247843,YEATS4,227,"YEATS domain-containing protein 4; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and repl [...] " 9606.ENSP00000247879,TAS2R3,316,Taste receptor type 2 member 3; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. 9606.ENSP00000247881,TAS2R4,299,"Taste receptor type 2 member 4; Gustducin-coupled receptor for denatonium and N(6)-propyl-2- thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency." 9606.ENSP00000247883,TAS2R5,299,"Taste receptor type 2 member 5; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000247930,ZNF777,831,Zinc finger protein 777; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000247933,IDUA,653,alpha-L-iduronidase. 9606.ENSP00000247956,ZNF317,595,Zinc finger protein 317; May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation. 9606.ENSP00000247970,PIN1,163,"Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1; Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs. By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes. Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK. Can transactivate multiple [...] " 9606.ENSP00000247977,FBXL12,326,F-box/LRR-repeat protein 12; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia. 9606.ENSP00000247986,KIF17,1029,Kinesin-like protein KIF17; Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. 9606.ENSP00000247992,PLA2G2C,150,Putative inactive group IIC secretory phospholipase A2; Inactive phospholipase. 9606.ENSP00000248071,KLF2,355,Krueppel-like factor 2; Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription. Might be involved in transcriptional regulation by modulating the binding of the RARA nuclear receptor to RARE DNA elements. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000248072,OR7C2,319,Olfactory receptor 7C2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000248076,F2RL3,385,Proteinase-activated receptor 4; Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000248089,HCFC1R1,138,Host cell factor C1 regulator 1; Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus. 9606.ENSP00000248098,JPT2,190,Jupiter microtubule associated homolog 2; Belongs to the JUPITER family. 9606.ENSP00000248114,GFER,205,"FAD-linked sulfhydryl oxidase ALR; [Isoform 1]: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen." 9606.ENSP00000248121,SYNGR3,229,Synaptogyrin-3; May play a role in regulated exocytosis. May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal; Belongs to the synaptogyrin family. 9606.ENSP00000248139,RAB40C,281,Ras-related protein Rab-40C; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000248150,GNG13,67,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000248211,ZNF10,573,Zinc finger protein 10; May be involved in transcriptional regulation. 9606.ENSP00000248244,TICAM1,712,"TIR domain-containing adapter molecule 1; Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF- kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis. Ligand binding to these receptors results in TRIF recruitment through its TIR domain. Distinct protein-interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively. Phosphorylation by TBK1 on the pLxIS motif [...] " 9606.ENSP00000248248,MON1B,547,"MON1 homolog B, secretory trafficking associated; Belongs to the MON1/SAND family." 9606.ENSP00000248306,METTL25,603,Methyltransferase-like protein 25; Putative methyltransferase. 9606.ENSP00000248342,EIF3K,218,"Eukaryotic translation initiation factor 3 subunit K; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000248384,OR1E2,323,Olfactory receptor 1E2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000248437,TUBA4A,448,"Tubulin alpha-4A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000248444,VIL1,827,"Villin-1; Epithelial cell-specific Ca(2+)-regulated actin-modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the inte [...] " 9606.ENSP00000248553,HSPB1,205,Heat shock protein beta-1; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding- competent state. Plays a role in stress resistance and actin organization. Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins. 9606.ENSP00000248564,GNG11,73,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000248572,GNGT1,74,"Guanine nucleotide-binding protein G(T) subunit gamma-T1; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000248594,PTPN12,780,"Tyrosine-protein phosphatase non-receptor type 12; Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades. Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2. Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248'." 9606.ENSP00000248598,FGL2,439,Fibroleukin; May play a role in physiologic lymphocyte functions at mucosal sites. 9606.ENSP00000248600,STYXL1,313,"Serine/threonine/tyrosine-interacting-like protein 1; Catalytically inactive phosphatase. By binding to G3BP1, inhibits the formation of G3BP1- induced stress granules. Does not act by protecting the dephosphorylation of G3BP1 at 'Ser-149'. Inhibits PTPMT1 phosphatase activity. By inhibiting PTPMT1, positively regulates intrinsic apoptosis. May play a role in the formation of neurites during neuronal development. Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily." 9606.ENSP00000248633,PEX1,1283,"Peroxisome biogenesis factor 1; Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes." 9606.ENSP00000248643,MTERF1,399,"Transcription termination factor 1, mitochondrial; Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand; Belongs to the mTERF family." 9606.ENSP00000248668,LRFN1,771,"Leucine-rich repeat and fibronectin type III domain-containing protein 1; Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (By similarity)." 9606.ENSP00000248706,RASL11B,248,Ras-like protein family member 11B; RAS like family 11 member B. 9606.ENSP00000248846,TUBGCP6,1819,Gamma-tubulin complex component 6; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. 9606.ENSP00000248879,DGCR6L,220,Protein DGCR6L; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches; Belongs to the gonadal family. 9606.ENSP00000248901,CYTH4,394,Cytohesin-4; Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP. 9606.ENSP00000248923,GGT1,569,"Glutathione hydrolase 1 heavy chain; Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione [...] " 9606.ENSP00000248929,SGSM3,749,Small G protein signaling modulator 3; May play a cooperative role in NF2-mediated growth suppression of cells. 9606.ENSP00000248933,SEZ6L,1024,Seizure 6-like protein; May contribute to specialized endoplasmic reticulum functions in neurons. 9606.ENSP00000248948,VPREB3,123,Pre-B lymphocyte protein 3; Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells; Belongs to the immunoglobulin superfamily. 9606.ENSP00000248958,SDF2L1,221,Stromal cell derived factor 2 like 1. 9606.ENSP00000248975,YWHAH,246,"14-3-3 protein eta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1." 9606.ENSP00000249007,RFPL3,317,Ret finger protein-like 3; (Microbial infection) Stimulates the activity of Human Immunodeficiency Virus 1/HIV-1 pre-integration complex. 9606.ENSP00000249014,CDC42EP1,391,Cdc42 effector protein 1; Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts. 9606.ENSP00000249016,MCHR1,422,"Melanin-concentrating hormone receptor 1; Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000249041,GALR3,368,Galanin receptor type 3; Receptor for the hormone galanin. Receptor for the hormone spexin-1. 9606.ENSP00000249044,APOL5,433,Apolipoprotein L5; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. 9606.ENSP00000249064,CCDC117,279,Coiled-coil domain containing 117. 9606.ENSP00000249066,APOL2,337,Apolipoprotein L2; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. 9606.ENSP00000249071,RAC2,192,"Ras-related C3 botulinum toxin substrate 2; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase." 9606.ENSP00000249075,LIF,202,"Leukemia inhibitory factor; LIF has the capacity to induce terminal differentiation in leukemic cells. Its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes." 9606.ENSP00000249269,PMPCB,489,"Mitochondrial-processing peptidase subunit beta; Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis." 9606.ENSP00000249284,TAS2R16,291,Taste receptor type 2 member 16; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. 9606.ENSP00000249299,LSM8,96,"U6 snRNA-associated Sm-like protein LSm8; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA." 9606.ENSP00000249330,VGF,615,"Neuroendocrine regulatory peptide-1; [Neurosecretory protein VGF]: Secreted polyprotein that is packaged and proteolytically processed by prohormone convertases PCSK1 and PCSK2 in a cell-type-specific manner (By similarity). VGF and peptides derived from its processing play many roles in neurogenesis and neuroplasticity associated with learning, memory, depression and chronic pain (By similarity). [Neuroendocrine regulatory peptide-2]: Plays a role in the control of body fluid homeostasis by regulating vasopressin release. Activates GABAergic interneurons which are inhibitory neurons o [...] " 9606.ENSP00000249344,STRIP2,834,Striatin-interacting protein 2; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Belongs to the STRIP family. 9606.ENSP00000249356,DNAJB9,223,"DnaJ homolog subfamily B member 9; Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins. In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also invol [...] " 9606.ENSP00000249363,LRRC4,653,Leucine-rich repeat-containing protein 4; Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays an important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity). 9606.ENSP00000249373,SMO,787,"Smoothened homolog; G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia. Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity)." 9606.ENSP00000249389,OPN1SW,348,"Short-wave-sensitive opsin 1; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity); Belongs to the G-protein coupled receptor 1 family. Opsin subfamily." 9606.ENSP00000249396,SIRT2,389,"NAD-dependent protein deacetylase sirtuin-2; NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors. Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy. Plays a major role in the control of cell cycle progression and genomic stability. Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtu [...] " 9606.ENSP00000249442,MTX2,263,Metaxin-2; Involved in transport of proteins into the mitochondrion. 9606.ENSP00000249499,HOXD9,352,Homeobox protein Hox-D9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000249501,HOXD10,340,Homeobox protein Hox-D10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000249504,HOXD11,338,Homeobox protein Hox-D11; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family. 9606.ENSP00000249647,SNAP23,211,Synaptosomal-associated protein 23; Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion; Belongs to the SNAP-25 family. 9606.ENSP00000249700,TMOD2,351,"Tropomodulin-2; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity)." 9606.ENSP00000249749,DLL4,685,"Delta-like protein 4; Involved in the Notch signaling pathway as Notch ligand. Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate." 9606.ENSP00000249750,ALDH1A2,518,"Retinal dehydrogenase 2; Converts retinaldehyde to retinoic acid. Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Can metabolize octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal. Displays complete lack of activity with citral (By similarity). Belongs to the aldehyde dehydrogenase family." 9606.ENSP00000249776,KNSTRN,316,"Small kinetochore-associated protein; Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase. Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments. Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule [...] " 9606.ENSP00000249806,CLN6,311,CLN6 transmembrane ER protein. 9606.ENSP00000249842,ISLR,428,Immunoglobulin superfamily containing leucine rich repeat. 9606.ENSP00000249861,THAP10,257,THAP domain containing 10. 9606.ENSP00000249887,ACKR4,350,"Atypical chemokine receptor 4; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin [...] " 9606.ENSP00000249910,MBD4,580,Methyl-CpG-binding domain protein 4; Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. 9606.ENSP00000249923,COPB1,953,"Coatomer subunit beta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also infl [...] " 9606.ENSP00000250003,MYOD1,320,"Myoblast determination protein 1; Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity)." 9606.ENSP00000250018,TPH1,444,Tryptophan hydroxylase 1; Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. 9606.ENSP00000250024,E2F8,867,"Transcription factor E2F8; Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta a [...] " 9606.ENSP00000250056,PIMREG,248,"Protein PIMREG; During mitosis, may play a role in the control of metaphase- to-anaphase transition." 9606.ENSP00000250076,ZNF232,444,Zinc finger protein 232; May be involved in transcriptional regulation. 9606.ENSP00000250092,CD68,354,"Macrosialin; Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells." 9606.ENSP00000250101,TXNDC17,123,Thioredoxin domain-containing protein 17; Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide; Belongs to the thioredoxin family. 9606.ENSP00000250111,ATP1B2,290,"Sodium/potassium-transporting ATPase subunit beta-2; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known." 9606.ENSP00000250113,FXR2,673,Fragile X mental retardation syndrome-related protein 2; RNA-binding protein; Belongs to the FMR1 family. 9606.ENSP00000250124,MPDU1,247,Mannose-P-dolichol utilization defect 1 protein; Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors; Belongs to the MPDU1 (TC 2.A.43.3) family. 9606.ENSP00000250160,CCN4,367,"CCN family member 4; Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan; Belongs to the CCN family." 9606.ENSP00000250237,QTRT1,403,"Queuine tRNA-ribosyltransferase catalytic subunit 1; Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, formi [...] " 9606.ENSP00000250263,ERI1,349,"3'-5' exoribonuclease 1; RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'- ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rR [...] " 9606.ENSP00000250340,CLEC11A,323,C-type lectin domain family 11 member A; Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts. Important for repair and maintenance of adult bone (By similarity). 9606.ENSP00000250351,KLK12,254,Kallikrein-12; Kallikrein related peptidase 12; Belongs to the peptidase S1 family. Kallikrein subfamily. 9606.ENSP00000250378,CMA1,247,"Chymase; Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion." 9606.ENSP00000250405,BCL2L2,193,Bcl-2-like protein 2; Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX. 9606.ENSP00000250416,PARP2,583,"Poly [ADP-ribose] polymerase 2; Poly-ADP-ribosyltransferase that mediates poly-ADP- ribosylation of proteins and plays a key role in DNA repair. Mainly mediates glutamate and aspartate ADP-ribosylation of target proteins: the ADP-D- ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of glutamate and aspartate residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units. ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/s [...] " 9606.ENSP00000250448,FOXA1,472,"Hepatocyte nuclear factor 3-alpha; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'- [AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures [...] " 9606.ENSP00000250454,EAPP,285,"E2F-associated phosphoprotein; May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression." 9606.ENSP00000250457,EGLN3,239,"Egl nine homolog 3; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the v [...] " 9606.ENSP00000250495,NEDD8,81,"NEDD8; Ubiquitin-like protein which plays an important role in cell cycle control and embryogenesis. Covalent attachment to its substrates requires prior activation by the E1 complex UBE1C-APPBP1 and linkage to the E2 enzyme UBE2M. Attachment of NEDD8 to cullins activates their associated E3 ubiquitin ligase activity, and thus promotes polyubiquitination and proteasomal degradation of cyclins and other regulatory proteins." 9606.ENSP00000250498,DAD1,113,"Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the [...] " 9606.ENSP00000250535,CDO1,200,"Cysteine dioxygenase type 1; Initiates several important metabolic pathways related to pyruvate and several sulfurate compounds including sulfate, hypotaurine and taurine. Critical regulator of cellular cysteine concentrations. Has an important role in maintaining the hepatic concentation of intracellular free cysteine within a proper narrow range." 9606.ENSP00000250559,RAP1B,184,"Ras-related protein Rap-1b; GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function; Belongs to the small GTPase superfamily. Ras family." 9606.ENSP00000250615,AANAT,252,"Serotonin N-acetyltransferase; Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N- acetylserotonin, the penultimate step in the synthesis of melatonin. Belongs to the acetyltransferase family. AANAT subfamily." 9606.ENSP00000250617,ARHGEF6,776,Rho guanine nucleotide exchange factor 6; Acts as a RAC1 guanine nucleotide exchange factor (GEF). 9606.ENSP00000250693,ART1,327,GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1; Has ADP-ribosyltransferase activity toward GLP1R. 9606.ENSP00000250699,CHRNA10,450,"Neuronal acetylcholine receptor subunit alpha-10; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion- conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reduci [...] " 9606.ENSP00000250784,RPS4Y1,263,Ribosomal protein S4 Y-linked 1; Belongs to the eukaryotic ribosomal protein eS4 family. 9606.ENSP00000250823,VCY1B,125,Testis-specific basic protein Y 1; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Belongs to the VCX/VCY family. 9606.ENSP00000250825,VCY,125,Variable charge Y-linked. 9606.ENSP00000250831,RBMY1J,496,"RNA-binding motif protein, Y chromosome, family 1 member F/J; RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis." 9606.ENSP00000250863,DAZL,315,"Deleted in azoospermia-like; RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity); Belongs to the RRM DAZ family." 9606.ENSP00000250896,MKNK2,465,"MAP kinase-interacting serine/threonine-protein kinase 2; Serine/threonine-protein kinase that phosphorylates SFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Required for mediating PP2A- inhibition-induced EIF4E phosphorylation. Triggers EIF4E shuttling from cytoplasm to nucleus. Isoform 1 displays a high basal kinase activity, but isoform 2 exhibits a very low kinase activity. Acts as a [...] " 9606.ENSP00000250916,KLF16,252,Krueppel-like factor 16; Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (By similarity); Belongs to the Sp1 C2H2-type zinc-finger protein family. 9606.ENSP00000250974,ABHD17A,361,Alpha/beta hydrolase domain-containing protein 17A; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS. Has depalmitoylating activity towards DLG4/PSD95. May have depalmitoylating activity towards MAP6 (By similarity). 9606.ENSP00000251020,SALL1,1324,Sal-like protein 1; Transcriptional repressor involved in organogenesis. 9606.ENSP00000251038,ZC3H14,736,Zinc finger CCCH domain-containing protein 14; Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides. 9606.ENSP00000251047,LMAN1,510,"Protein ERGIC-53; Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins." 9606.ENSP00000251089,ANGEL1,670,Angel homolog 1; Belongs to the CCR4/nocturin family. 9606.ENSP00000251102,CNGB1,1251,"Cyclic nucleotide-gated cation channel beta-1; Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP." 9606.ENSP00000251108,CDADC1,514,Cytidine and dCMP deaminase domain-containing protein 1; May play an important role in testicular development and spermatogenesis; Belongs to the cytidine and deoxycytidylate deaminase family. 9606.ENSP00000251119,ZFYVE26,2539,Zinc finger FYVE domain-containing protein 26; Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair. 9606.ENSP00000251127,NALCN,1738,"Sodium leak channel non-selective protein; Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability. Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by contro [...] " 9606.ENSP00000251143,VPS35L,1052,"VPS35 endosomal protein sorting factor-like; Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes. In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numero [...] " 9606.ENSP00000251157,DOCK7,2131,"Dedicator of cytokinesis protein 7; Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization. As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton. Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells [...] " 9606.ENSP00000251166,CORO7,925,"Coronin-7; F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology. Belongs to the WD repeat coronin family." 9606.ENSP00000251170,SEC14L5,696,SEC14-like protein 5; SEC14 like lipid binding 5. 9606.ENSP00000251203,PBX4,374,Pre-B-cell leukemia transcription factor 4; PBX homeobox 4; Belongs to the TALE/PBX homeobox family. 9606.ENSP00000251241,DHX40,779,Probable ATP-dependent RNA helicase DHX40; Probable ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DEAH subfamily. 9606.ENSP00000251250,DTWD1,304,DTW domain containing 1; Belongs to the DTW family. 9606.ENSP00000251268,MEGF8,2845,Multiple epidermal growth factor-like domains protein 8; Acts as a negative regulator of hedgehog signaling. 9606.ENSP00000251269,ZNF221,617,Zinc finger protein 221; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000251287,HCN2,889,Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2; Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in the distal nephron. Produces a large instantaneous current. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity). 9606.ENSP00000251296,IGSF21,467,Immunoglobulin superfamily member 21; Involved in synaptic inhibition in the brain. Selectively regulates inhibitory presynaptic differentiation through interacting with presynaptic NRXN2. 9606.ENSP00000251303,SLX1A,275,"Structure-specific endonuclease subunit SLX1; Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products." 9606.ENSP00000251337,GNAT2,354,Guanine nucleotide-binding protein G(t) subunit alpha-2; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP- phosphodiesterase. 9606.ENSP00000251363,CERS4,394,"Ceramide synthase 4; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor." 9606.ENSP00000251372,LILRA1,489,Leukocyte immunoglobulin-like receptor subfamily A member 1; May act as receptor for class I MHC antigens. 9606.ENSP00000251412,TUBG2,451,"Tubulin gamma-2 chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity)." 9606.ENSP00000251413,TUBG1,451,"Tubulin gamma-1 chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation." 9606.ENSP00000251472,MAST1,1570,Microtubule-associated serine/threonine-protein kinase 1; Microtubule-associated protein essential for correct brain development. Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity). 9606.ENSP00000251496,NCAPG,1015,"Condensin complex subunit 3; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases." 9606.ENSP00000251507,RABGAP1L,815,"Rab GTPase-activating protein 1-like; GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP. Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3- phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous dir [...] " 9606.ENSP00000251535,ALOX12,663,"Arachidonate 12-lipoxygenase, 12S-type; Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species. Mainly converts arachidonic acid to (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can also metabolize linoleic acid. In contrast does not react towards methyl esters of linoleic and arachidonic acids (By similarity). Also catalyzes the epoxidation of double bonds of polyunsaturated fatty acids such as 14 [...] " 9606.ENSP00000251566,UGT2A3,527,UDP-glucuronosyltransferase 2A3; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). 9606.ENSP00000251582,ADAMTS2,1211,A disintegrin and metalloproteinase with thrombospondin motifs 2; Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity. 9606.ENSP00000251588,CIAO3,476,"Cytosolic iron-sulfur assembly component 3; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect; Belongs to the NARF family." 9606.ENSP00000251595,HBA2,142,Hemoglobin subunit alpha; Involved in oxygen transport from the lung to the various peripheral tissues. 9606.ENSP00000251607,TRNT1,434,"CCA tRNA nucleotidyltransferase 1, mitochondrial; [Isoform 1]: Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates." 9606.ENSP00000251636,DHX29,1369,ATP-dependent RNA helicase DHX29; ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity. Belongs to the DEAD box helicase family. DEAH subfamily. 9606.ENSP00000251642,DHX58,678,"Probable ATP-dependent RNA helicase DHX58; Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: compet [...] " 9606.ENSP00000251643,KRT12,494,"Keratin, type I cytoskeletal 12; May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity)." 9606.ENSP00000251645,KRT31,416,"Keratin, type I cuticular Ha1; Keratin 31." 9606.ENSP00000251646,KRT33B,404,"Keratin, type I cuticular Ha3-II; Keratin 33B; Belongs to the intermediate filament family." 9606.ENSP00000251691,ARFGEF3,2177,"Brefeldin A-inhibited guanine nucleotide-exchange protein 3; Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells." 9606.ENSP00000251768,SLC4A5,1137,"Electrogenic sodium bicarbonate cotransporter 4; Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH; Belongs to the anion exchanger (TC 2.A.31) family." 9606.ENSP00000251775,SNX4,450,Sorting nexin-4; Involved in the regulation of endocytosis and in several stages of intracellular trafficking. Plays a role in recycling endocytosed transferrin receptor and prevent its degradation. Belongs to the sorting nexin family. 9606.ENSP00000251810,RRM2B,351,Ribonucleoside-diphosphate reductase subunit M2 B; Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. Belongs to the ribonucleoside diphosphate reductase small chain family. 9606.ENSP00000251864,TDRD1,1189,"Tudor domain-containing protein 1; Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of corr [...] " 9606.ENSP00000251871,MED17,651,"Mediator of RNA polymerase II transcription subunit 17; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000251900,SCML2,700,"Sex comb on midleg-like protein 2; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity)." 9606.ENSP00000251921,NXPE1,405,NXPE family member 1; Neurexophilin and PC-esterase domain family member 1; Belongs to the NXPE family. 9606.ENSP00000251968,TSG101,390,"Tumor susceptibility gene 101 protein; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding [...] " 9606.ENSP00000251993,KIAA0930,409,Uncharacterized protein KIAA0930; KIAA0930. 9606.ENSP00000252011,DHX35,703,Probable ATP-dependent RNA helicase DHX35; May be involved in pre-mRNA splicing; Belongs to the DEAD box helicase family. DEAH subfamily. 9606.ENSP00000252015,TRPC4AP,797,"Short transient receptor potential channel 4-associated protein; Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1." 9606.ENSP00000252032,C20orf194,1177,Uncharacterized protein C20orf194; May act as an effector for ARL3. 9606.ENSP00000252037,FKBP6,327,"Inactive peptidyl-prolyl cis-trans isomerase FKBP6; Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be re [...] " 9606.ENSP00000252050,CUL9,2517,"Cullin-9; Core component of a Cul9-RING ubiquitin-protein ligase complex, a complex that mediates ubiquitination and subsequent degradation of BIRC5 and is required to maintain microtubule dynamics and genome integrity. Acts downstream of the 3M complex, which inhibits CUL9 activity, leading to prevent ubiquitination of BIRC5. Cytoplasmic anchor protein in p53/TP53-associated protein complex. Regulates the subcellular localization of p53/TP53 and subsequent function." 9606.ENSP00000252071,ACTR3C,210,Actin-related protein 3C; May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells. 9606.ENSP00000252085,PCDHGA12,932,Protocadherin gamma-A12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000252087,PCDHGC5,944,Protocadherin gamma-C5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000252100,TMCO6,499,Transmembrane and coiled-coil domains 6. 9606.ENSP00000252102,NDUFA2,99,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000252137,ESS2,476,Splicing factor ESS-2 homolog; May be involved in pre-mRNA splicing. 9606.ENSP00000252229,MICB,383,MHC class I polypeptide-related sequence B; Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis; Belongs to the MHC class I family. MIC subfamily. 9606.ENSP00000252242,KRT5,590,"Keratin, type II cytoskeletal 5; Keratin 5; Belongs to the intermediate filament family." 9606.ENSP00000252244,KRT1,644,"Keratin, type II cytoskeletal 1; May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK." 9606.ENSP00000252245,KRT75,551,"Keratin, type II cytoskeletal 75; Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle." 9606.ENSP00000252250,KRT6C,564,"Keratin, type II cytoskeletal 6C; Keratin 6C; Belongs to the intermediate filament family." 9606.ENSP00000252252,KRT6B,564,"Keratin, type II cytoskeletal 6B; Keratin 6B; Belongs to the intermediate filament family." 9606.ENSP00000252268,DPF2,405,Zinc finger protein ubi-d4; Plays an active role in transcriptional regulation by binding modified histones H3 and H4. Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells. Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway. 9606.ENSP00000252318,GALNT8,637,"Probable polypeptide N-acetylgalactosaminyltransferase 8; Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor." 9606.ENSP00000252321,KCNA5,613,"Potassium voltage-gated channel subfamily A member 5; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well [...] " 9606.ENSP00000252338,FAM155B,472,Transmembrane protein FAM155B; Family with sequence similarity 155 member B. 9606.ENSP00000252456,CNN1,297,"Calponin-1; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity)." 9606.ENSP00000252482,EXOC3L2,409,Exocyst complex component 3 like 2; Belongs to the SEC6 family. 9606.ENSP00000252483,NECTIN2,538,"Nectin-2; Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive. Probable cell adhesion protein ; Belongs to the nectin family." 9606.ENSP00000252486,APOE,317,"Apolipoprotein E; APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance. Apoliproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma. As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density [...] " 9606.ENSP00000252505,ALLC,391,Probable allantoicase; The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals. 9606.ENSP00000252506,GADD45G,159,Growth arrest and DNA damage-inducible protein GADD45 gamma; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK; Belongs to the GADD45 family. 9606.ENSP00000252512,XPO7,1087,"Exportin-7; Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate ano [...] " 9606.ENSP00000252530,FAM98C,349,Protein FAM98C; Family with sequence similarity 98 member C. 9606.ENSP00000252542,SAFB2,953,Scaffold attachment factor B2; Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation. 9606.ENSP00000252575,NCAN,1321,Neurocan core protein; May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N- CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid; Belongs to the aggrecan/versican proteoglycan family. 9606.ENSP00000252590,PLVAP,442,"Plasmalemma vesicle-associated protein; Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development." 9606.ENSP00000252593,BST2,180,"Bone marrow stromal antigen 2; IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including retroviridae: h [...] " 9606.ENSP00000252595,SLC27A1,646,"Long-chain fatty acid transport protein 1; Mediates the ATP-dependent import of long-chain fatty acids (LCFA) into the cell by mediating their translocation at the plasma membrane. Has also an acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane- associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or trigl [...] " 9606.ENSP00000252597,USHBP1,703,Usher syndrome type-1C protein-binding protein 1; USH1 protein network component harmonin binding protein 1. 9606.ENSP00000252599,COLGALT1,622,"Procollagen galactosyltransferase 1; Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen. By acting on collagen glycosylation, facilitates the formation of collagen triple helix. Also involved in the biosynthesis of collagen type IV." 9606.ENSP00000252602,MRPL34,92,Mitochondrial ribosomal protein L34; Belongs to the bacterial ribosomal protein bL34 family. 9606.ENSP00000252603,PGLS,258,6-phosphogluconolactonase; Hydrolysis of 6-phosphogluconolactone to 6-phosphogluconate. 9606.ENSP00000252622,LSM7,103,"U6 snRNA-associated Sm-like protein LSm7; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA." 9606.ENSP00000252655,RSPH3,560,Radial spoke head protein 3 homolog; Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia. Belongs to the flagellar radial spoke RSP3 family. 9606.ENSP00000252674,MLLT1,559,"Protein ENL; Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA." 9606.ENSP00000252677,BMP15,392,Bone morphogenetic protein 15; May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth. 9606.ENSP00000252699,ACTN4,911,Alpha-actinin-4; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coacti [...] 9606.ENSP00000252711,NDUFA10,355,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000252723,EPO,193,"Erythropoietin; Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3. Belongs to the EPO/TPO family." 9606.ENSP00000252729,CACNG6,260,Voltage-dependent calcium channel gamma-6 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. 9606.ENSP00000252744,ZSWIM6,1215,"Zinc finger SWIM domain-containing protein 6; involved in nervous system development, important for striatal morphology and motor regulation." 9606.ENSP00000252797,ZNF764,408,Zinc finger protein 764; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000252804,PXDN,1479,Peroxidasin homolog; Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation. 9606.ENSP00000252809,GDF15,308,"Growth/differentiation factor 15; Regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses. Binds to its receptor, GFRAL, and activates GFRAL- expressing neurons localized in the area postrema and nucleus tractus solitarius of the brainstem. It then triggers the activation of neurons localized within the parabrachial nucleus and central amygdala, which contitutes part of the 'emergency circuit' that shapes feeding responses to stressful conditions. On hepatocytes, inhibits growth hormone signaling (By similarity)." 9606.ENSP00000252818,JUND,347,Transcription factor jun-D; Transcription factor binding AP-1 sites. 9606.ENSP00000252825,HRC,699,Sarcoplasmic reticulum histidine-rich calcium-binding protein; May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle. 9606.ENSP00000252826,TRPM4,1214,"Transient receptor potential cation channel subfamily M member 4; Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating [...] " 9606.ENSP00000252835,OR11H1,326,Olfactory receptor 11H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000252840,ZNF557,430,Zinc finger protein 557; May be involved in transcriptional regulation. 9606.ENSP00000252891,NUMBL,609,"Numb-like protein; Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF-kappa-B ac [...] " 9606.ENSP00000252934,ATXN10,475,Ataxin-10; Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. 9606.ENSP00000252939,CALY,217,Neuron-specific vesicular protein calcyon; Interacts with clathrin light chain A and stimulates clathrin self-assembly and clathrin-mediated endocytosis. 9606.ENSP00000252951,HBZ,142,Hemoglobin subunit zeta; The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin. 9606.ENSP00000252971,MNX1,401,Motor neuron and pancreas homeobox protein 1; Putative transcription factor involved in pancreas development and function. 9606.ENSP00000252979,ZNF337,751,Zinc finger protein 337; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000252992,CEP85,762,Centrosomal protein of 85 kDa; Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity. Belongs to the CEP85 family. 9606.ENSP00000252996,TAF4,1085,"Transcription initiation factor TFIID subunit 4; Part of the TFIID complex, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone." 9606.ENSP00000252997,GATA5,397,Transcription factor GATA-5; Transcription factor required during cardiovascular development. Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer. 9606.ENSP00000252998,RBBP8NL,664,RBBP8 N-terminal-like protein; RBBP8 N-terminal like. 9606.ENSP00000252999,LAMA5,3695,"Laminin subunit alpha-5; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000253008,PRDM12,367,PR domain zinc finger protein 12; Involved in the positive regulation of histone H3-K9 dimethylation. 9606.ENSP00000253023,UBE2M,183,"NEDD8-conjugating enzyme Ubc12; Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation; Belongs to the ubiquitin-conjugating enzyme family. UBC12 subfamily." 9606.ENSP00000253024,TRIM28,835,"Transcription intermediary factor 1-beta; Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at 'Lys-9' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 'Lys-9 and 'Lys-14' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression [...] " 9606.ENSP00000253031,YIPF2,316,Protein YIPF2; Yip1 domain family member 2. 9606.ENSP00000253039,EIF2S3,472,"Eukaryotic translation initiation factor 2 subunit 3; As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In o [...] " 9606.ENSP00000253047,TMEM160,188,Transmembrane protein 160. 9606.ENSP00000253048,ZC3H4,1303,Zinc finger CCCH-type containing 4. 9606.ENSP00000253055,MAP3K10,954,Mitogen-activated protein kinase kinase kinase 10; Activates the JUN N-terminal pathway; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. 9606.ENSP00000253063,SESN2,480,"Sestrin-2; Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway. This stress-inducible metabolic regulator also plays a role in protection against oxidative and genotoxic stresses. May negatively regulate protein translation in response to endoplasmic reticulum stress, via TORC1. May positively regulate the transcripti [...] " 9606.ENSP00000253079,CCDC62,684,"Coiled-coil domain-containing protein 62; Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR." 9606.ENSP00000253083,HIP1R,1068,"Huntingtin-interacting protein 1-related protein; Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3- phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis." 9606.ENSP00000253107,PPAN,473,Suppressor of SWI4 1 homolog; May have a role in cell growth. 9606.ENSP00000253108,EIF3G,320,"Eukaryotic translation initiation factor 3 subunit G; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...] " 9606.ENSP00000253109,ANGPTL6,470,"Angiopoietin-related protein 6; May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure." 9606.ENSP00000253110,SHFL,291,"Shiftless antiviral inhibitor of ribosomal frameshifting protein; Inhibits programmed -1 ribosomal frameshifting (-1PRF) of a variety of mRNAs from viruses, such as HIV1, and cellular genes, such as PEG10. Interacts with the -1PRF signal of target mRNA and translating ribosomes and causes premature translation termination at the frameshifting site. Regulates HIV1 GAG-POL expression by inhibiting -1PRF. Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cell [...] " 9606.ENSP00000253115,ZNF426,554,Zinc finger protein 426; May be involved in transcriptional regulation. 9606.ENSP00000253122,SLC6A8,635,Sodium- and chloride-dependent creatine transporter 1; Required for the uptake of creatine in muscles and brain. 9606.ENSP00000253144,ZNF331,463,Zinc finger protein 331; May be involved in transcriptional regulation. May play a role in spermatogenesis. 9606.ENSP00000253188,SLC7A10,523,"Asc-type amino acid transporter 1; Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse; Belongs to the amino acid-polyamine-organocation (APC) superfamily." 9606.ENSP00000253193,LRP3,770,"Low-density lipoprotein receptor-related protein 3; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro; Belongs to the LDLR family." 9606.ENSP00000253237,GRWD1,446,"Glutamate-rich WD repeat-containing protein 1; Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness." 9606.ENSP00000253247,NOL11,719,"Nucleolar protein 11; Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b." 9606.ENSP00000253255,PKDREJ,2253,Polycystic kidney disease and receptor for egg jelly-related protein; May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm; Belongs to the polycystin family. 9606.ENSP00000253262,NUTM2F,756,NUT family member 2F; Belongs to the NUT family. 9606.ENSP00000253270,SLC35D2,337,"UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter; Antiporter transporting nucleotide sugars such as UDP-N- acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP-mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling." 9606.ENSP00000253329,PPIL4,492,Peptidyl-prolyl cis-trans isomerase-like 4; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIL4 subfamily. 9606.ENSP00000253354,BPIFB1,484,"BPI fold-containing family B member 1; May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS; Belongs to the BPI/LBP/Plunc superfamily. Plunc family." 9606.ENSP00000253362,BPIFA2,249,BPI fold-containing family A member 2; Has strong antibacterial activity against P. aeruginosa. Belongs to the BPI/LBP/Plunc superfamily. Plunc family. 9606.ENSP00000253363,RBM39,530,"RNA-binding protein 39; Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process." 9606.ENSP00000253381,DEFB118,123,Beta-defensin 118; Has antibacterial activity. 9606.ENSP00000253382,ACSS2,714,"Acetyl-coenzyme A synthetase, cytoplasmic; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids. Acetate is the preferred substrate. Can also utilize propionate with a much lower affinity (By similarity). Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000253407,C1QL1,258,C1q-related factor; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). 9606.ENSP00000253408,GFAP,472,"Glial fibrillary acidic protein; GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells." 9606.ENSP00000253410,HIGD1B,99,HIG1 hypoxia inducible domain family member 1B. 9606.ENSP00000253413,ATP6V1E1,226,V-type proton ATPase subunit E 1; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000253457,EMC8,210,ER membrane protein complex subunit 8. 9606.ENSP00000253458,GSE1,1217,Genetic suppressor element 1; Gse1 coiled-coil protein. 9606.ENSP00000253462,GINS2,185,"DNA replication complex GINS protein PSF2; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA." 9606.ENSP00000253496,F12,615,"Coagulation factor XIIa heavy chain; Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa." 9606.ENSP00000253577,ABCB7,753,"ATP-binding cassette sub-family B member 7, mitochondrial; Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins." 9606.ENSP00000253669,HAUS8,410,"HAUS augmin-like complex subunit 8; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex." 9606.ENSP00000253673,ADGRE3,652,Adhesion G protein-coupled receptor E3; Orphan receptor that may play a role myeloid-myeloid interactions during immune and inflammatory responses. A ligand for the soluble form of this receptor is present at the surface of monocytes- derived macrophages and activated neutrophils. 9606.ENSP00000253686,MRPS25,173,Mitochondrial ribosomal protein S25. 9606.ENSP00000253693,CAPN7,813,Calpain-7; Calcium-regulated non-lysosomal thiol-protease. Belongs to the peptidase C2 family. 9606.ENSP00000253697,C3orf20,904,Uncharacterized protein C3orf20; Chromosome 3 open reading frame 20. 9606.ENSP00000253699,RBSN,784,Rabenosyn-5; Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3). Plays a role in the recycling of transferrin receptor to the plasma membrane. 9606.ENSP00000253719,NAPSA,420,Napsin-A; May be involved in processing of pneumocyte surfactant precursors. 9606.ENSP00000253754,PDLIM4,330,"PDZ and LIM domain protein 4; [Isoform 1]: Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC 'Tyr-419' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiation of a new SRC inactivation cycle. Involved in reorganization of the actin cytoskeleton. In nonmuscle cells, binds to ACTN1 (alpha-actinin-1), increases the affinity of ACTN1 to F-actin (filamentous actin), and promotes formation of actin stress fibers. Involved in regulation of the synaptic AMPA receptor transport [...] " 9606.ENSP00000253778,GFPT2,682,Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. 9606.ENSP00000253794,VPS25,176,"Vacuolar protein-sorting-associated protein 25; Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in f [...] " 9606.ENSP00000253796,RAMP2,175,Receptor activity-modifying protein 2; Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL; Belongs to the RAMP family. 9606.ENSP00000253799,AOC2,756,Retina-specific copper amine oxidase; Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina. 9606.ENSP00000253801,G6PC,357,"Glucose-6-phosphatase; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels; Belongs to the glucose-6-phosphatase family." 9606.ENSP00000253807,PCDHAC1,963,Protocadherin alpha-C1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000253812,PCDHGA3,932,Protocadherin gamma-A3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000253814,NDFIP1,221,"NEDD4 family-interacting protein 1; Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cell-mediated inflammation by activating ITCH and thus controlling JUNB degradation (By similarity). Promotes pancreatic beta cell death through degradation of JUNB and inhibition of the unfolded protein response, leading to reduction of insulin secretion. Restricts the production of proinflammatory cytokines in effector Th17 T-cells [...] " 9606.ENSP00000253861,EXOC4,974,Exocyst complex component 4; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. 9606.ENSP00000253925,PPFIA1,1202,"Liprin-alpha-1; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. Belongs to the liprin family. Liprin-alpha subfamily." 9606.ENSP00000253928,FLYWCH1,716,FLYWCH-type zinc finger 1. 9606.ENSP00000253968,BARX1,254,"Homeobox protein BarH-like 1; Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter." 9606.ENSP00000254029,WDR44,913,WD repeat-containing protein 44; Downstream effector for RAB11. May be involved in vesicle recycling (By similarity). 9606.ENSP00000254037,ZCCHC9,271,Zinc finger CCHC domain-containing protein 9; May down-regulate transcription mediated by NF-kappa-B and the serum response element. 9606.ENSP00000254051,TNS4,715,"Tensin-4; May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton (By similarity). May promote apoptosis, via its cleavage by caspase-3." 9606.ENSP00000254066,RARA,462,"Retinoic acid receptor alpha; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9- cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcr [...] " 9606.ENSP00000254072,KRTAP9-8,159,"Keratin-associated protein 9-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000254079,PPP1R1B,204,Protein phosphatase 1 regulatory subunit 1B; Inhibitor of protein-phosphatase 1. 9606.ENSP00000254090,FMO5,533,Dimethylaniline monooxygenase [N-oxide-forming] 5; In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme. 9606.ENSP00000254101,PRKAB2,272,"5'-AMP-activated protein kinase subunit beta-2; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...] " 9606.ENSP00000254108,FUS,526,"RNA-binding protein FUS; DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response. Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing. Binds also its own pre- mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay. Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination [...] " 9606.ENSP00000254166,ZNF132,706,Zinc finger protein 132; May be involved in transcriptional regulation. 9606.ENSP00000254181,USP29,922,Ubiquitin specific peptidase 29. 9606.ENSP00000254190,CHSY1,802,"Chondroitin sulfate synthase 1; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling." 9606.ENSP00000254193,SNRPA1,255,"U2 small nuclear ribonucleoprotein A; Involved in pre-mRNA splicing as component of the spliceosome. Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA. Belongs to the U2 small nuclear ribonucleoprotein A family." 9606.ENSP00000254227,NR0B2,257,Nuclear receptor subfamily 0 group B member 2; Transcriptional regulator that acts as a negative regulator of receptor-dependent signaling pathways (By similarity). Specifically inhibits transactivation of the nuclear receptor with which it interacts (By similarity). Inhibits transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of the p300/CBP-mediated transcription complex for NEUROD1. Essential component of the liver circadian clock which via its interaction with NR1D1 and RORG regulates NPAS2-mediated hepatic lipid metabolism [...] 9606.ENSP00000254250,THAP1,213,"THAP domain-containing protein 1; DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptotic activity by potentiating both serum- withdrawal and TNF-induced apoptosis." 9606.ENSP00000254260,RHPN2,686,Rhophilin-2; Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity. Belongs to the RHPN family. 9606.ENSP00000254286,ACTR10,417,Actin related protein 10; Belongs to the actin family. 9606.ENSP00000254301,LGALS3,250,"Galectin-3; Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells. Together with TRIM16, coordinates the recognition of [...] " 9606.ENSP00000254322,DNAJB1,340,DnaJ homolog subfamily B member 1; Interacts with HSP70 and can stimulate its ATPase activity. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro). 9606.ENSP00000254323,ZSWIM4,989,Zinc finger SWIM-type containing 4. 9606.ENSP00000254325,RFX1,979,MHC class II regulatory factor RFX1; Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter; Belongs to the RFX family. 9606.ENSP00000254336,C19orf57,637,Uncharacterized protein C19orf57; Chromosome 19 open reading frame 57. 9606.ENSP00000254337,DCAF15,600,DDB1- and CUL4-associated factor 15; May be involved in ubiquitination and degradation through a DBB1-CUL4 E3 protein-ubiquitin ligase. 9606.ENSP00000254436,TRIM21,475,"E3 ubiquitin-protein ligase TRIM21; E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2. Forms a ubiquitin ligase complex in cooperation with the E2 UBE2D2 that is used not only for the ubiquitination of USP4 and IKBKB but also for its self-ubiquitination. Component of cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes such as SCF(SKP2)-like complexes. A TRIM21-containing SCF(SKP2)-like complex is shown to mediate ubiquitination of CDKN1B ('Thr-187' phosphorylated-form), thereby promoting its degrad [...] " 9606.ENSP00000254442,WDR7,1490,WD repeat domain 7. 9606.ENSP00000254480,SMARCC1,1105,"SWI/SNF complex subunit SMARCC1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF [...] " 9606.ENSP00000254488,SLC6A11,632,Sodium- and chloride-dependent GABA transporter 3; Terminates the action of GABA by its high affinity sodium- dependent reuptake into presynaptic terminals; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily. 9606.ENSP00000254508,NUP210,1887,"Nuclear pore membrane glycoprotein 210; Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity." 9606.ENSP00000254521,HSD17B7,341,3-keto-steroid reductase; Responsible for the reduction of the keto group on the C-3 of sterols; Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily. 9606.ENSP00000254528,EMILIN2,1053,"EMILIN-2; May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity." 9606.ENSP00000254579,DNHD1,4753,Dynein heavy chain domain 1. 9606.ENSP00000254605,RRP8,456,"Ribosomal RNA-processing protein 8; Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone- modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and pr [...] " 9606.ENSP00000254616,TIMM10B,103,"Mitochondrial import inner membrane translocase subunit Tim10 B; Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space." 9606.ENSP00000254624,EFR3A,821,"Protein EFR3 homolog A; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect." 9606.ENSP00000254627,OC90,477,"Otoconin-90; Major protein of the otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Together with OTOL1, acts as a scaffold for otoconia biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OTOL1, modulates calcite crystal morphology and growth kinetics. It is unlikely that this protein has phospholipase A2 activity." 9606.ENSP00000254630,PTCD3,689,"Pentatricopeptide repeat domain-containing protein 3, mitochondrial; Mitochondrial RNA-binding protein that has a role in mitochondrial translation." 9606.ENSP00000254654,ILKAP,392,"Integrin-linked kinase-associated serine/threonine phosphatase 2C; Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation." 9606.ENSP00000254657,PER2,1255,"Period circadian protein homolog 2; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardi [...] " 9606.ENSP00000254661,RAMP1,148,Receptor activity-modifying protein 1; Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL. 9606.ENSP00000254667,PTPRE,700,"Receptor-type tyrosine-protein phosphatase epsilon; Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity). Isoform 1 and isoform 2 act as a negative regulator of FceRI- mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+); Belongs to the protein-tyrosine phosphatase family. Receptor class [...] " 9606.ENSP00000254691,CARD6,1037,Caspase recruitment domain-containing protein 6; May be involved in apoptosis. 9606.ENSP00000254695,RAP1GAP2,730,"Rap1 GTPase-activating protein 2; GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP- bound state." 9606.ENSP00000254719,RPA1,616,"Replication protein A 70 kDa DNA-binding subunit, N-terminally processed; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint act [...] " 9606.ENSP00000254722,SERPINF1,418,"Pigment epithelium-derived factor; Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity." 9606.ENSP00000254730,EEFSEC,596,Selenocysteine-specific elongation factor; Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP. 9606.ENSP00000254759,COQ3,369,"Ubiquinone biosynthesis O-methyltransferase, mitochondrial; O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway." 9606.ENSP00000254765,POPDC3,291,"Popeye domain-containing protein 3; May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding." 9606.ENSP00000254770,LANCL2,450,LanC-like protein 2; Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes. 9606.ENSP00000254799,GRSF1,480,"G-rich sequence factor 1; Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G- rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences. Involved in the degradosome-mediated decay of non- coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules. Acts by unwindi [...] " 9606.ENSP00000254803,UTP3,479,Something about silencing protein 10; Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain (By similarity); Belongs to the SAS10 family. 9606.ENSP00000254810,H3-3B,136,"Histone H3.3; Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in [...] " 9606.ENSP00000254816,TRIM47,638,E3 ubiquitin-protein ligase TRIM47; E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD; Belongs to the TRIM/RBCC family. 9606.ENSP00000254846,KDM6B,1682,"Lysine-specific demethylase 6B; Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expressio [...] " 9606.ENSP00000254854,GUCY2D,1103,"Retinal guanylyl cyclase 1; Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family." 9606.ENSP00000254868,CLEC10A,316,"C-type lectin domain family 10 member A; Probable role in regulating adaptive and innate immune responses. Binds in a calcium-dependent manner to terminal galactose and N-acetylgalactosamine units, linked to serine or threonine. These sugar moieties are known as Tn-Ag and are expressed in a variety of carcinoma cells." 9606.ENSP00000254878,RIDA,137,"2-iminobutanoate/2-iminopropanoate deaminase; Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism. May facilitate the release of ammonia from these potentially toxic reactive metabolites, reducing their impact on cellular components. It may act on enamine/imine intermediates formed by several types of pyridoxal-5'- phosphate-dependent dehydratases including L-threonine dehydratase. Belongs to the RutC family." 9606.ENSP00000254898,MATN2,956,Matrilin-2; Involved in matrix assembly. 9606.ENSP00000254900,BRD8,1235,"Bromodomain-containing protein 8; May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other prote [...] " 9606.ENSP00000254928,ERAL1,437,"GTPase Era, mitochondrial; Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Era GTPase family." 9606.ENSP00000254940,NIP7,180,60S ribosome subunit biogenesis protein NIP7 homolog; Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly; Belongs to the NIP7 family. 9606.ENSP00000254942,TERF2,542,"Telomeric repeat-binding factor 2; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA- binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'- TTAGGG-3' repeats added [...] " 9606.ENSP00000254950,VPS4A,437,"Vacuolar protein sorting-associated protein 4A; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth fact [...] " 9606.ENSP00000254958,JAG1,1218,Protein jagged-1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). 9606.ENSP00000254963,HSPA12B,686,Heat shock protein family A member 12B; Belongs to the heat shock protein 70 family. 9606.ENSP00000254976,SNAP25,206,Synaptosomal-associated protein 25; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells. Belongs to the SNAP-25 family. 9606.ENSP00000254998,NXT1,140,"NTF2-related export protein 1; Stimulator of protein export for NES-containing proteins. Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA. The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5." 9606.ENSP00000255006,RIN2,944,"Ras and Rab interactor 2; Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. Belongs to the RIN (Ras interaction/interference) family." 9606.ENSP00000255008,SSTR4,388,"Somatostatin receptor type 4; Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells." 9606.ENSP00000255030,CRP,224,"C-reactive protein(1-205); Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells." 9606.ENSP00000255039,HAPLN2,340,Hyaluronan and proteoglycan link protein 2; Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity). 9606.ENSP00000255040,APCS,223,Serum amyloid P-component(1-203); Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin; Belongs to the pentraxin family. 9606.ENSP00000255078,IGHMBP2,993,DNA-binding protein SMUBP-2; 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch regio [...] 9606.ENSP00000255082,ACY3,319,N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming); Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity); Belongs to the AspA/AstE family. Aspartoacylase subfamily. 9606.ENSP00000255087,TESMIN,508,Tesmin; May have a role in spermatogenesis; Belongs to the lin-54 family. 9606.ENSP00000255108,DPH2,489,"2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2)." 9606.ENSP00000255120,NASP,788,"Nuclear autoantigenic sperm protein; Required for DNA replication, normal cell cycle progression and cell proliferation. Forms a cytoplasmic complex with HSP90 and H1 linker histones and stimulates HSP90 ATPase activity. NASP and H1 histone are subsequently released from the complex and translocate to the nucleus where the histone is released for binding to DNA." 9606.ENSP00000255136,PABPC1L,614,Polyadenylate-binding protein 1-like; poly(A) binding protein cytoplasmic 1 like. 9606.ENSP00000255152,ZSWIM3,696,Zinc finger SWIM-type containing 3. 9606.ENSP00000255174,OSER1,292,Oxidative stress-responsive serine-rich protein 1; Oxidative stress responsive serine rich 1. 9606.ENSP00000255189,DMGDH,866,"Dimethylglycine dehydrogenase, mitochondrial; Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro." 9606.ENSP00000255192,BHMT2,363,S-methylmethionine--homocysteine S-methyltransferase BHMT2; Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. 9606.ENSP00000255194,AP3B1,1094,"AP-3 complex subunit beta-1; Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into [...] " 9606.ENSP00000255198,ZBED3,234,Zinc finger BED domain-containing protein 3; Acts as a positive regulator in the activation of the canonical Wnt/beta-catenin signaling pathway by stabilizing cytoplasmic beta-catenin. Involved in transcription activation of Wnt target gene expression (By similarity). 9606.ENSP00000255224,SYT4,425,"Synaptotagmin-4; Synaptotagmin family member which does not bind Ca(2+) (By similarity). Involved in neuronal dense core vesicles (DCVs) mobility through its interaction with KIF1A. Upon increased neuronal activity, phosphorylation by MAPK8/JNK1 destabilizes the interaction with KIF1A and captures DCVs to synapses (By similarity). Plays a role in dendrite formation by melanocytes." 9606.ENSP00000255226,SLC14A2,920,Urea transporter 2; Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism. 9606.ENSP00000255262,NMUR2,415,Neuromedin-U receptor 2; Receptor for the neuromedin-U and neuromedin-S neuropeptides. Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000255266,PDE6A,860,"Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; This protein participates in processes of transmission and amplification of the visual signal; Belongs to the cyclic nucleotide phosphodiesterase family." 9606.ENSP00000255304,USPL1,1092,SUMO-specific isopeptidase USPL1; SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full- length SUMO proteins to their mature forms. Plays a key role in RNA polymerase-II-mediated snRNA transcription in the Cajal bodies. Is a component of complexes that can bind to U snRNA genes. 9606.ENSP00000255305,XPO4,1151,"Exportin-4; Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate ano [...] " 9606.ENSP00000255324,RNF17,1623,"RING finger protein 17; Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad-MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity)." 9606.ENSP00000255380,CHRM3,590,"Muscarinic acetylcholine receptor M3; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover." 9606.ENSP00000255381,MYH4,1939,Myosin-4; Muscle contraction. 9606.ENSP00000255389,PEMT,236,"Phosphatidylethanolamine N-methyltransferase; Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC)." 9606.ENSP00000255390,SCO1,301,"Protein SCO1 homolog, mitochondrial; Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Not required for the synthesis of MT-CO2/COX2 but plays a crucial role in stabilizing MT- CO2/COX2 during its subsequent maturation. Involved in transporting copper to the Cu(A) site on MT-CO2/COX2. Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity). Belongs to the SCO1/2 family." 9606.ENSP00000255409,CHI3L1,383,"Chitinase-3-like protein 1; Carbohydrate-binding lectin with a preference for chitin. Has no chitinase activity. May play a role in tissue remodeling and in the capacity of cells to respond to and cope with changes in their environment. Plays a role in T-helper cell type 2 (Th2) inflammatory response and IL-13-induced inflammation, regulating allergen sensitization, inflammatory cell apoptosis, dendritic cell accumulation and M2 macrophage differentiation. Facilitates invasion of pathogenic enteric bacteria into colonic mucosa and lymphoid organs. Mediates activation of AKT1 signaling [...] " 9606.ENSP00000255416,MYBPH,477,Myosin-binding protein H; Binds to myosin; probably involved in interaction with thick myofilaments in the A-band. 9606.ENSP00000255465,CCNA1,465,Cyclin-A1; May be involved in the control of the cell cycle at the G1/S (start) and G2/M (mitosis) transitions. May primarily function in the control of the germline meiotic cell cycle and additionally in the control of mitotic cell cycle in some somatic cells. Belongs to the cyclin family. Cyclin AB subfamily. 9606.ENSP00000255476,RFXAP,272,Regulatory factor X-associated protein; Part of the RFX complex that binds to the X-box of MHC II promoters. 9606.ENSP00000255499,RNF128,428,"E3 ubiquitin-protein ligase RNF128; E3 ubiquitin-protein ligase that catalyzes 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains formation. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production. Ubiquitinates ARPC5 with 'Lys-48' linkages and COR1A with 'Lys-63' linkages leading to their degradation, down- regulation of these cytoslele [...] " 9606.ENSP00000255608,BTBD2,525,BTB/POZ domain-containing protein 2; BTB domain containing 2. 9606.ENSP00000255613,KMT5C,462,"Histone-lysine N-methyltransferase KMT5C; Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity. In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, ther [...] " 9606.ENSP00000255631,HSPBP1,359,Hsp70-binding protein 1; Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR. 9606.ENSP00000255641,CSNK1G2,415,"Casein kinase I isoform gamma-2; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degra [...] " 9606.ENSP00000255681,MACROD1,325,"ADP-ribose glycohydrolase MACROD1; Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward m [...] " 9606.ENSP00000255688,PLAAT4,164,"Phospholipase A and acyltransferase 4; Exhibits both phospholipase A1/2 and acyltransferase activities. Shows phospholipase A1 (PLA1) and A2 (PLA2), catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids. For most substrates, PLA1 activity is much higher than PLA2 activity. Shows O- acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid. Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn- [...] " 9606.ENSP00000255695,PLAAT2,162,"Phospholipase A and acyltransferase 2; Exhibits both phospholipase A1/2 and acyltransferase activities. Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids. For most substrates, PLA1 activity is much higher than PLA2 activity. Shows O- acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid. Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group a [...] " 9606.ENSP00000255764,MED10,135,"Mediator of RNA polymerase II transcription subunit 10; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000255784,CCDC134,229,"Coiled-coil domain-containing protein 134; In extracellular secreted form, promotes proliferation and activation of CD8(+) T cells, suggesting a cytokine-like function. Enhances cytotoxic anti-tumor activity of CD8(+) T cells. May inhibit ERK and JNK signaling activity. May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling." 9606.ENSP00000255858,SEC14L4,406,"SEC14-like protein 4; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids." 9606.ENSP00000255882,PI4KA,2102,"Phosphatidylinositol 4-kinase alpha; Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,- trisphosphate; Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily." 9606.ENSP00000255977,MKRN1,482,"E3 ubiquitin-protein ligase makorin-1; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II- dependent transcription." 9606.ENSP00000256001,ACTR3B,418,Actin-related protein 3B; Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. 9606.ENSP00000256010,NTS,170,Neurotensin/neuromedin N; Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle; Belongs to the neurotensin family. 9606.ENSP00000256015,BTG1,171,Protein BTG1; Anti-proliferative protein. 9606.ENSP00000256078,KRAS,189,"GTPase KRas, N-terminally processed; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation. Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner." 9606.ENSP00000256079,IPO8,1037,"Importin-8; Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the c [...] " 9606.ENSP00000256103,PMP2,132,Myelin P2 protein; May play a role in lipid transport protein in Schwann cells. May bind cholesterol. 9606.ENSP00000256104,FABP4,132,"Fatty acid-binding protein, adipocyte; Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family." 9606.ENSP00000256151,CCDC59,241,Thyroid transcription factor 1-associated protein 26; Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities. 9606.ENSP00000256178,LYVE1,322,"Lymphatic vessel endothelial hyaluronic acid receptor 1; Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes." 9606.ENSP00000256190,SBF2,1849,"Myotubularin-related protein 13; Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion. Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser ex [...] " 9606.ENSP00000256194,MICAL2,1124,"[F-actin]-monooxygenase MICAL2; Nuclear monooxygenase that promotes depolymerization of F- actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (By similarity). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promo [...] " 9606.ENSP00000256196,RRAS2,204,"Ras-related protein R-Ras2; It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion." 9606.ENSP00000256255,SARAF,339,"Store-operated calcium entry-associated regulatory factor; Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)- dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions." 9606.ENSP00000256257,RNF122,155,RING finger protein 122; May induce necrosis and apoptosis. May play a role in cell viability. 9606.ENSP00000256261,DUSP26,211,Dual specificity protein phosphatase 26; Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK). 9606.ENSP00000256319,ERG28,140,Ergosterol biosynthesis 28 homolog; Belongs to the ERG28 family. 9606.ENSP00000256339,UNC79,2458,"Protein unc-79 homolog; Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability; Belongs to the unc-79 family." 9606.ENSP00000256343,CATSPERB,1116,Cation channel sperm-associated protein subunit beta; Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. 9606.ENSP00000256362,VRTN,702,Vertnin; Vertebrae development associated; Belongs to the vertnin family. 9606.ENSP00000256366,SYNJ2BP,145,Synaptojanin-2-binding protein; Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction. 9606.ENSP00000256367,TTC9,222,Tetratricopeptide repeat domain 9; Belongs to the TTC9 family. 9606.ENSP00000256383,EIF2S1,315,"Eukaryotic translation initiation factor 2 subunit 1; Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre- initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF- 2 must exchange with GTP by way of a reaction catalyzed [...] " 9606.ENSP00000256398,ELP3,547,"Elongator complex protein 3; Catalytic tRNA acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5- carbamoylmethyl uridine). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRN [...] " 9606.ENSP00000256404,PEBP4,227,"Phosphatidylethanolamine-binding protein 4; Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization. Belongs to the phosphatidylethanolamine-binding protein family." 9606.ENSP00000256412,ADAMDEC1,470,ADAM DEC1; May play an important role in the control of the immune response and during pregnancy. 9606.ENSP00000256429,MBD2,411,"Methyl-CpG-binding domain protein 2; Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters." 9606.ENSP00000256433,IER3IP1,82,Immediate early response 3-interacting protein 1; May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity); Belongs to the YOS1 family. 9606.ENSP00000256441,MRPS36,103,Mitochondrial ribosomal protein S36. 9606.ENSP00000256442,CCNB1,433,G2/mitotic-specific cyclin-B1; Essential for the control of the cell cycle at the G2/M (mitosis) transition; Belongs to the cyclin family. Cyclin AB subfamily. 9606.ENSP00000256443,CDK7,346,"Cyclin-dependent kinase 7; Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating [...] " 9606.ENSP00000256447,CD180,661,CD180 antigen; May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF- kappa-B activation. Also involved in the life/death decision of B-cells (By similarity). 9606.ENSP00000256458,IRAK2,625,"Interleukin-1 receptor-associated kinase-like 2; Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization." 9606.ENSP00000256460,CAMK1,370,"Calcium/calmodulin-dependent protein kinase type 1; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in h [...] " 9606.ENSP00000256474,VHL,213,"Von Hippel-Lindau disease tumor suppressor; Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2; Belongs to the VHL family." 9606.ENSP00000256495,BHLHE40,412,Class E basic helix-loop-helix protein 40; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK- ARNTL/BMAL1|ARNTL2/ [...] 9606.ENSP00000256497,EDEM1,657,"ER degradation-enhancing alpha-mannosidase-like protein 1; Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan- independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2. Belongs to the glycosyl hydrolase 47 family." 9606.ENSP00000256509,CHL1,1224,Processed neural cell adhesion molecule L1-like protein; Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell [...] 9606.ENSP00000256538,DPH6,267,Diphthine--ammonia ligase; Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity). 9606.ENSP00000256544,KATNBL1,304,KATNB1-like protein 1; Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro. 9606.ENSP00000256545,EMC7,242,ER membrane protein complex subunit 7; Belongs to the EMC7 family. 9606.ENSP00000256592,TSHB,138,Thyrotropin subunit beta; Indispensable for the control of thyroid structure and metabolism; Belongs to the glycoprotein hormones subunit beta family. 9606.ENSP00000256593,GSTM5,218,Glutathione S-transferase Mu 5; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 9606.ENSP00000256637,SORT1,831,Sortilin; Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differ [...] 9606.ENSP00000256644,LAMTOR5,173,"Ragulator complex protein LAMTOR5; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V- ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. When complexed to BIRC5, interferes with apoptosome assem [...] " 9606.ENSP00000256646,NOTCH2,2471,"Neurogenic locus notch homolog protein 2; Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and pos [...] " 9606.ENSP00000256649,TRIM45,580,Tripartite motif-containing protein 45; May act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway. 9606.ENSP00000256682,ARF3,181,"ADP-ribosylation factor 3; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus; Belongs to the small GTPase superfamily. Arf family." 9606.ENSP00000256689,SLC38A2,506,"Sodium-coupled neutral amino acid transporter 2; Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood-brain barrier and in the supply of maternal nutrients to the fetus through the placenta." 9606.ENSP00000256707,KIDINS220,1771,"Kinase D-interacting substrate of 220 kDa; Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neuri [...] " 9606.ENSP00000256722,CMPK2,449,"UMP-CMP kinase 2, mitochondrial; May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. Also displays broad nucleoside diphosphate kinase activity." 9606.ENSP00000256737,ANO3,981,Anoctamin-3; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. 9606.ENSP00000256759,FST,344,Follistatin; Binds directly to activin and functions as an activin antagonist. Specific inhibitor of the biosynthesis and secretion of pituitary follicle stimulating hormone (FSH). 9606.ENSP00000256785,CFHR5,569,Complement factor H-related protein 5; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. 9606.ENSP00000256797,ERN2,926,"Serine/threonine-protein kinase/endoribonuclease IRE2; Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins." 9606.ENSP00000256854,NARS1,548,"Asparagine--tRNA ligase, cytoplasmic; Catalyzes the attachment of asparagine to tRNA(Asn) in a two- step reaction: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn). In addition to its essential role in protein synthesis, acts as a signaling molecule that induced migration of CCR3-expressing cells." 9606.ENSP00000256857,GRP,148,"Gastrin-releasing peptide; Stimulates the release of gastrin and other gastrointestinal hormones (By similarity). Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory. Contributes to the regulation of food intake (By similarity)." 9606.ENSP00000256858,RELCH,1250,RAB11-binding protein RELCH; Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP. Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes. 9606.ENSP00000256906,HRH4,390,Histamine H4 receptor; The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist); Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000256925,CABLES1,633,"CDK5 and ABL1 enzyme substrate 1; Cyclin-dependent kinase binding protein. Enhances cyclin- dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity)." 9606.ENSP00000256951,EMP1,157,Epithelial membrane protein 1. 9606.ENSP00000256953,RERG,199,"Ras-related and estrogen-regulated growth inhibitor; Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential." 9606.ENSP00000256958,SLCO1B1,691,"Solute carrier organic anion transporter family member 1B1; Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver. Belongs to the organo anion transporter (TC 2.A.60) family." 9606.ENSP00000256969,SPX,116,"Spexin-1; Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity). [Spexin-2]: Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity)." 9606.ENSP00000256996,DDB2,427,"DNA damage-binding protein 2; Required for DNA repair. Binds to DDB1 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (al [...] " 9606.ENSP00000256999,FOLH1,750,"Glutamate carboxypeptidase 2; Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. Has a preference for tri- alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression." 9606.ENSP00000257013,RTL8C,113,Retrotransposon Gag like 8C; Belongs to the FAM127 family. 9606.ENSP00000257017,RAB33A,237,"Ras-related protein Rab-33A; RAB33A, member RAS oncogene family." 9606.ENSP00000257068,MTNR1B,362,Melatonin receptor type 1B; High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. 9606.ENSP00000257118,PHC2,858,"Polyhomeotic-like protein 2; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility." 9606.ENSP00000257177,TUT4,1645,"Terminal uridylyltransferase 4; Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay. Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also functions as an integral regulator of microRNA biogenesis using 3 different uridylation [...] " 9606.ENSP00000257181,PRPF38A,312,Pre-mRNA-splicing factor 38A; Involved in pre-mRNA splicing as a component of the spliceosome. 9606.ENSP00000257189,DSG3,999,Desmoglein-3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. 9606.ENSP00000257192,DSG1,1049,Desmoglein-1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. 9606.ENSP00000257198,DSC1,894,Desmocollin-1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues. 9606.ENSP00000257215,DAGLA,1042,"Sn1-specific diacylglycerol lipase alpha; Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000257245,TIMM10,90,Mitochondrial import inner membrane translocase subunit Tim10; Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. Belongs to the small Tim family. 9606.ENSP00000257248,CBLIF,417,"Cobalamin binding intrinsic factor; Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis; Belongs to the eukaryotic cobalamin transport proteins family." 9606.ENSP00000257264,TCN1,433,Transcobalamin-1; Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach; Belongs to the eukaryotic cobalamin transport proteins family. 9606.ENSP00000257287,CEP135,1140,Centrosomal protein of 135 kDa; Involved in early centriole assembly/duplication/biogenesis/formation/. Required for centriole elongation. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner. 9606.ENSP00000257290,PDGFRA,1089,"Platelet-derived growth factor receptor alpha; Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointes [...] " 9606.ENSP00000257312,DZIP1,867,Zinc finger protein DZIP1; May participate in spermatogenesis via its interaction with DAZ. Has a role in primary cilium formation ; Belongs to the DZIP C2H2-type zinc-finger protein family. 9606.ENSP00000257336,BIVM,503,"Basic, immunoglobulin-like variable motif containing." 9606.ENSP00000257347,CARS2,564,"Probable cysteine--tRNA ligase, mitochondrial; cysteinyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family." 9606.ENSP00000257359,ADAMTS8,889,A disintegrin and metalloproteinase with thrombospondin motifs 8; Has anti-angiogenic properties. 9606.ENSP00000257408,KLB,1044,"Beta-klotho; Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity)." 9606.ENSP00000257414,SEMA6A,1047,Semaphorin-6A; Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity); Belongs to the sema [...] 9606.ENSP00000257430,APC,2843,Adenomatous polyposis coli protein; Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)- induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localiza [...] 9606.ENSP00000257527,ADAM19,918,"Disintegrin and metalloproteinase domain-containing protein 19; Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity)." 9606.ENSP00000257548,USP30,517,"Ubiquitin carboxyl-terminal hydrolase 30; Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkin's ability to drive mitophagy. Preferentially cleaves 'Lys-6'- and 'Lys-11'-linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling. Does not cleave efficiently polyubiquitin phosphorylated at 'Ser-65'. Acts as negative regulator of mitochondria [...] " 9606.ENSP00000257549,SDS,328,L-serine dehydratase/L-threonine deaminase; Serine dehydratase. 9606.ENSP00000257552,MSI1,362,RNA-binding protein Musashi homolog 1; RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5'-GUUAGUUAGUUAGUU- 3' and other sequences containing the pattern 5'-[GA]U(1-3)AGU-3'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity); Belongs to the Musashi family. 9606.ENSP00000257566,TBX3,743,T-box transcription factor TBX3; Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. 9606.ENSP00000257570,OASL,514,"2'-5'-oligoadenylate synthase-like protein; Does not have 2'-5'-OAS activity, but can bind double- stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L; Belongs to the 2-5A synthase family." 9606.ENSP00000257572,HRK,91,Activator of apoptosis harakiri; Promotes apoptosis. 9606.ENSP00000257575,RNFT2,444,"Ring finger protein, transmembrane 2." 9606.ENSP00000257600,DTX1,620,"E3 ubiquitin-protein ligase DTX1; Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell- fate determinations. Mainly acts as a positive regulator of Notch, but it also acts as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhib [...] " 9606.ENSP00000257604,TRAFD1,582,TRAF-type zinc finger domain-containing protein 1; Negative feedback regulator that controls excessive innate immune responses. Regulates both Toll-like receptor 4 (TLR4) and DDX58/RIG1-like helicases (RLH) pathways. May inhibit the LTR pathway by direct interaction with TRAF6 and attenuation of NF-kappa-B activation. May negatively regulate the RLH pathway downstream from MAVS and upstream of NF-kappa-B and IRF3 (By similarity). 9606.ENSP00000257626,GSAP,854,"Gamma-secretase-activating protein 16 kDa C-terminal form; Regulator of gamma-secretase activity, which specifically activates the production of amyloid-beta protein (amyloid-beta protein 40 and amyloid-beta protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Specifically promotes the gamma- cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secre [...] " 9606.ENSP00000257627,OCM2,109,Putative oncomodulin-2; Oncomodulin 2; Belongs to the parvalbumin family. 9606.ENSP00000257663,TMEM60,133,Transmembrane protein 60. 9606.ENSP00000257694,PNPLA8,782,"Calcium-independent phospholipase A2-gamma; Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids." 9606.ENSP00000257696,HILPDA,63,"Hypoxia-inducible lipid droplet-associated protein; Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation." 9606.ENSP00000257700,RINT1,792,RAD50-interacting protein 1; Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control. Essential for telomere length control ; Belongs to the RINT1 family. 9606.ENSP00000257724,MDFIC,355,"MyoD family inhibitor domain-containing protein; Acts as a transcriptional activator or repressor. Inhibits the transcriptional activation of Zic family proteins ZIC1, ZIC2 and ZIC3. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm. Modulates the expression from both cellular and viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin-beta. Also stimulates activation of human [...] " 9606.ENSP00000257749,BACH2,841,"Transcription regulator protein BACH2; Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1. Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation ; Belongs to the bZI [...] " 9606.ENSP00000257770,NT5E,574,"5'-nucleotidase; Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities." 9606.ENSP00000257776,MRAP2,205,"Melanocortin-2 receptor accessory protein 2; Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand- sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidence is required in vivo." 9606.ENSP00000257787,AKIRIN2,203,"Akirin-2; Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity); Belongs to the akirin family." 9606.ENSP00000257789,ORC3,712,"Origin recognition complex subunit 3; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3; Belongs to the ORC3 family." 9606.ENSP00000257818,LMO2,227,Rhombotin-2; Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state. 9606.ENSP00000257829,NAT10,1025,"RNA cytidine acetyltransferase; RNA cytidine acetyltransferase that catalyzes the formation of N(4)-acetylcytidine (ac4C) modification on mRNAs, 18S rRNA and tRNAs. Catalyzes ac4C modification of a broad range of mRNAs, enhancing mRNA stability and translation. mRNA ac4C modification is frequently present within wobble cytidine sites and promotes translation efficiency. Mediates the formation of ac4C at position 1842 in 18S rRNA. May also catalyze the formation of ac4C at position 1337 in 18S rRNA (By similarity). Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 [...] " 9606.ENSP00000257836,PRRG4,226,Transmembrane gamma-carboxyglutamic acid protein 4; May control axon guidance across the CNS. Prevents the delivery of ROBO1 at the cell surface and downregulates its expression ; Belongs to the commissureless family. 9606.ENSP00000257860,PRPH,470,Peripherin; Class-III neuronal intermediate filament protein; Belongs to the intermediate filament family. 9606.ENSP00000257861,AVIL,819,Advillin; Ca(2+)-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. 9606.ENSP00000257863,AMHR2,573,"Anti-Muellerian hormone type-2 receptor; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily." 9606.ENSP00000257867,LACRT,138,Extracellular glycoprotein lacritin; Modulates secretion by lacrimal acinar cells. 9606.ENSP00000257868,GDF11,407,"Growth/differentiation factor 11; Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 ; Belongs to the TGF-beta family." 9606.ENSP00000257894,FAM186B,893,Protein FAM186B; Family with sequence similarity 186 member B. 9606.ENSP00000257895,RDH5,318,"Retinol dehydrogenase 5; Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner. Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates. Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000257901,KRT85,507,"Keratin, type II cuticular Hb5; Keratin 85; Belongs to the intermediate filament family." 9606.ENSP00000257904,CDK4,303,Cyclin-dependent kinase 4; Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. [...] 9606.ENSP00000257905,PPP1R1A,171,"Protein phosphatase 1 regulatory subunit 1A; Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases." 9606.ENSP00000257909,TROAP,778,Tastin; Could be involved with bystin and trophinin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. 9606.ENSP00000257910,TSPAN31,210,Tetraspanin-31; Tetraspanin 31. 9606.ENSP00000257915,TFCP2,502,"Alpha-globin transcription factor CP2; Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter. Belongs to the grh/CP2 fam [...] " 9606.ENSP00000257934,ESPL1,2120,"Separin; Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is inactivated by different mechanisms." 9606.ENSP00000257940,ZC3H10,434,"Zinc finger CCCH domain-containing protein 10; Specific regulator of miRNA biogenesis. Binds, via the C3H1- type zinc finger domains, to the binding motif 5'-GCAGCGC-3' on microRNA pri-MIR143 and negatively regulates the processing to mature microRNA." 9606.ENSP00000257951,KRT84,600,"Keratin, type II cuticular Hb4; Keratin 84." 9606.ENSP00000257974,KRT82,513,"Keratin, type II cuticular Hb2; Keratin 82; Belongs to the intermediate filament family." 9606.ENSP00000257981,KCNH3,1083,Potassium voltage-gated channel subfamily H member 3; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.2/KCNH3 sub-subfamily. 9606.ENSP00000258034,TAAR5,337,"Trace amine-associated receptor 5; Olfactory receptor specific for trimethylamine, a trace amine. Also activated at lower level by dimethylethylamine. Trimethylamine is a bacterial metabolite found in some animal odors, and to humans it is a repulsive odor associated with bad breath and spoiled food. This receptor is probably mediated by the G(s)-class of G-proteins which activate adenylate cyclase." 9606.ENSP00000258042,NMBR,390,Neuromedin-B receptor; Receptor for neuromedin-B. 9606.ENSP00000258052,SMPD2,423,Sphingomyelin phosphodiesterase 2; Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso- sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero- 3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF; Belongs to the neutral sphingomyelinase family. 9606.ENSP00000258080,HTRA2,458,"Serine protease HTRA2, mitochondrial; Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase- independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive; Belongs to the peptidase S1C family." 9606.ENSP00000258083,PRADC1,188,Protease-associated domain-containing protein 1; Protease associated domain containing 1. 9606.ENSP00000258091,CCT7,543,"T-complex protein 1 subunit eta, N-terminally processed; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000258098,RAB11FIP5,653,Rab11 family-interacting protein 5; Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis. 9606.ENSP00000258105,MRPL53,112,Mitochondrial ribosomal protein L53. 9606.ENSP00000258106,EMX1,290,"Homeobox protein EMX1; Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system." 9606.ENSP00000258111,KCNMB4,210,"Calcium-activated potassium channel subunit beta-4; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations; Belongs to the KCNMB [...] " 9606.ENSP00000258145,GNS,552,N-acetylglucosamine-6-sulfatase; Glucosamine-6-sulfatase; Belongs to the sulfatase family. 9606.ENSP00000258149,MDM2,497,"E3 ubiquitin-protein ligase Mdm2; E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 [...] " 9606.ENSP00000258168,BCO1,547,"Beta,beta-carotene 15,15'-dioxygenase; Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism; Belongs to the carotenoid oxygenase family." 9606.ENSP00000258169,MPHOSPH6,160,M-phase phosphoprotein 6; RNA-binding protein that associates with the RNA exosome complex. Involved in the 3'-processing of the 7S pre-RNA to the mature 5.8S rRNA and play a role in recruiting the RNA exosome complex to pre- rRNA; this function may include C1D. 9606.ENSP00000258173,TMEM231,316,"Transmembrane protein 231; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)." 9606.ENSP00000258198,DYNC1LI2,492,Cytoplasmic dynein 1 light intermediate chain 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes; Belongs to the dynein light intermediate chain family. 9606.ENSP00000258200,FBXL8,374,F-box/LRR-repeat protein 8; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000258201,FHOD1,1164,"FH1/FH2 domain-containing protein 1; Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing." 9606.ENSP00000258214,CCDC102A,550,Coiled-coil domain containing 102A. 9606.ENSP00000258229,PCNX2,2137,Pecanex-like protein 2; May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H). Belongs to the pecanex family. 9606.ENSP00000258243,URB2,1524,URB2 ribosome biogenesis homolog. 9606.ENSP00000258281,TAF5L,589,"TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF6L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state (By [...] " 9606.ENSP00000258301,STX6,255,Syntaxin-6; Involved in intracellular vesicle trafficking. 9606.ENSP00000258302,RGS8,198,"Regulator of G-protein signaling 8; Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity)." 9606.ENSP00000258317,NPL,320,"N-acetylneuraminate lyase; Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity)." 9606.ENSP00000258341,LAMC1,1609,"Laminin subunit gamma-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000258381,SP110,713,Sp110 nuclear body protein; Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE). 9606.ENSP00000258383,MRPL44,332,"39S ribosomal protein L44, mitochondrial; Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome." 9606.ENSP00000258385,CHRND,517,"Acetylcholine receptor subunit delta; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub- subfamily." 9606.ENSP00000258399,USP37,979,"Ubiquitin carboxyl-terminal hydrolase 37; Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 an [...] " 9606.ENSP00000258400,HTR2B,481,5-hydroxytryptamine receptor 2B; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity o [...] 9606.ENSP00000258411,WNT10A,417,"Protein Wnt-10a; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development. Required for normal tooth development. Required for normal postnatal development and maintenance of tongue papillae and sweat ducts. Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 [...] " 9606.ENSP00000258415,CYP27A1,531,"Sterol 26-hydroxylase, mitochondrial; Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid. Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways. May also regulate cholesterol homeostasis via generation of active oxy [...] " 9606.ENSP00000258416,EIF4E2,245,"Eukaryotic translation initiation factor 4E type 2; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation. Acts as a repressor of translation initiation. In contrast to EIF4E, it is unable to bind eIF4G (EIF4G1, EIF4G2 or EIF4G3), suggesting that it acts by competing with EIF4E and block assembly of eIF4F at the cap (By similarity)." 9606.ENSP00000258418,CAB39,341,"Calcium-binding protein 39; Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1." 9606.ENSP00000258424,COX5B,129,"Cytochrome c oxidase subunit 5B, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...] " 9606.ENSP00000258428,REV1,1251,DNA repair protein REV1; Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template- dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents. 9606.ENSP00000258436,MFSD9,474,Major facilitator superfamily domain containing 9. 9606.ENSP00000258439,TMEM127,238,Transmembrane protein 127; Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor. 9606.ENSP00000258443,EDAR,448,"Tumor necrosis factor receptor superfamily member EDAR; Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase- independent cell death." 9606.ENSP00000258455,MRPS9,396,Mitochondrial ribosomal protein S9. 9606.ENSP00000258456,GPR45,372,Probable G-protein coupled receptor 45; Orphan receptor. May play a role in brain function. 9606.ENSP00000258457,C2orf49,232,Ashwin; Chromosome 2 open reading frame 49; Belongs to the ashwin family. 9606.ENSP00000258484,EPC2,807,Enhancer of polycomb homolog 2; May play a role in transcription or DNA repair. Belongs to the enhancer of polycomb family. 9606.ENSP00000258494,ALDH1L2,923,Mitochondrial 10-formyltetrahydrofolate dehydrogenase; Aldehyde dehydrogenase 1 family member L2; In the N-terminal section; belongs to the GART family. 9606.ENSP00000258499,USP44,712,"Ubiquitin carboxyl-terminal hydrolase 44; Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts [...] " 9606.ENSP00000258526,PLXNC1,1568,"Plexin-C1; Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity). Belongs to the plexin family." 9606.ENSP00000258534,DRAM1,238,DNA damage-regulated autophagy modulator protein 1; Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy. 9606.ENSP00000258538,SLC41A2,573,Solute carrier family 41 member 2; Acts as a plasma-membrane magnesium transporter. 9606.ENSP00000258613,THSD1,852,Thrombospondin type-1 domain-containing protein 1; Thrombospondin type 1 domain containing 1. 9606.ENSP00000258648,MED4,270,"Mediator of RNA polymerase II transcription subunit 4; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000258654,COG3,828,Conserved oligomeric Golgi complex subunit 3; Involved in ER-Golgi transport. 9606.ENSP00000258662,NUDT15,164,"Nucleotide triphosphate diphosphatase NUDT15; May catalyze the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP. Could also catalyze the hydrolysis of some nucleoside diphosphate derivatives. Hydrolyzes oxidized nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitizing role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides t [...] " 9606.ENSP00000258704,SPDYE1,336,Speedy protein E1; speedy/RINGO cell cycle regulator family member E1. 9606.ENSP00000258729,IGF2BP3,579,"Insulin-like growth factor 2 mRNA-binding protein 3; RNA-binding factor that may recruit target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to beta-actin/ACTB and MYC transcripts. Bind [...] " 9606.ENSP00000258739,KDELR2,212,"ER lumen protein-retaining receptor 2; Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity); Belongs to the ERD2 family." 9606.ENSP00000258742,NUP42,423,Nucleoporin NUP42; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. 9606.ENSP00000258770,TBRG4,631,"FAST kinase domain-containing protein 4; Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression. Belongs to the FAST kinase family." 9606.ENSP00000258772,DDX56,547,Probable ATP-dependent RNA helicase DDX56; May play a role in later stages of the processing of the pre- ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity; Belongs to the DEAD box helicase family. DDX56/DBP9 subfamily. 9606.ENSP00000258774,HUS1,280,Checkpoint protein HUS1; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity [...] 9606.ENSP00000258787,MYO1G,1018,"Minor histocompatibility antigen HA-2; Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B-cells, where it regulates different membrane/cytoskeleton-depen [...] " 9606.ENSP00000258796,TTYH3,523,Protein tweety homolog 3; Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. Belongs to the tweety family. 9606.ENSP00000258821,TTC5,440,Tetratricopeptide repeat protein 5; Adapter protein involved in p53/TP53 response that acts by regulating and mediating the assembly of multi-protein complexes. Required to facilitate the interaction between JMY and p300/EP300 and increase p53/TP53-dependent transcription and apoptosis. Prevents p53/TP53 degradation by MDM2 (By similarity). 9606.ENSP00000258829,NKX2-8,239,Homeobox protein Nkx-2.8; NK2 homeobox 8. 9606.ENSP00000258873,ACSBG1,724,"Long-chain-fatty-acid--CoA ligase ACSBG1; Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids ; Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily." 9606.ENSP00000258874,MTHFS,203,"5-formyltetrahydrofolate cyclo-ligase; Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5- formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate." 9606.ENSP00000258884,ABHD17C,329,Alpha/beta hydrolase domain-containing protein 17C; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95. Belongs to the AB hydrolase superfamily. ABHD17 family. 9606.ENSP00000258886,IREB2,963,"Iron-responsive element-binding protein 2; RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'-UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA." 9606.ENSP00000258888,ALPK3,1907,Alpha-protein kinase 3; Involved in cardiomyocyte differentiation. 9606.ENSP00000258930,CIB2,187,Calcium and integrin-binding family member 2; Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release. May be involved in the mechanotransduction process (By similarity). 9606.ENSP00000258955,RSAD1,442,"Radical S-adenosyl methionine domain-containing protein 1, mitochondrial; May be a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen- III oxidase activity (Probable). Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L- methionine (By similarity); Belongs to the anaerobic coproporphyrinogen-III oxidase family. HemW subfamily." 9606.ENSP00000258962,SRSF1,248,"Serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site- containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of the octame [...] " 9606.ENSP00000258969,CHAD,359,"Chondroadherin; Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity); Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily." 9606.ENSP00000258975,TACO1,297,Translational activator of cytochrome c oxidase 1; Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1; Belongs to the TACO1 family. 9606.ENSP00000258991,TEX2,1134,Testis-expressed protein 2; Testis expressed 2. 9606.ENSP00000259006,LIMD2,127,"LIM domain-containing protein 2; Acts as an activator of the protein-kinase ILK, thereby regulating cell motility." 9606.ENSP00000259008,BRIP1,1249,"Fanconi anemia group J protein; DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1." 9606.ENSP00000259021,KAT7,611,"Histone acetyltransferase KAT7; Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Involved in H3K14 (histone H3 lysine 14) acetylation and cell proliferation (By similarity). Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Acts as a coactivator of the licensing factor CDT1. Specifically represses AR-mediated transcription. Belongs to the MYST (SAS/MOZ) family." 9606.ENSP00000259030,RTP4,246,Receptor-transporting protein 4; Probable chaperone protein which facilitates trafficking and functional cell surface expression of some G-protein coupled receptors (GPCRs). Promotes functional expression of the bitter taste receptor TAS2R16. Also promotes functional expression of the opioid receptor heterodimer OPRD1-OPRM1 (By similarity). 9606.ENSP00000259037,NDUFB5,189,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000259053,CD302,232,CD302 antigen; Potential multifunctional C-type lectin receptor that may play roles in endocytosis and phagocytosis as well as in cell adhesion and migration. 9606.ENSP00000259056,GALNT5,940,"Polypeptide N-acetylgalactosaminyltransferase 5; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity)." 9606.ENSP00000259075,TANK,425,"TRAF family member-associated NF-kappa-B activator; Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. Acts as a regulator of TRAF function by maintaining them in a latent state. Blocks TRAF2 binding to LMP1 and inhibits LMP1- mediated NF-kappa-B activation. Negatively regulates NF-kappaB signaling and cell survival upon DNA damage. Plays a role as an adapter to assemble ZC3H12A, USP10 in a deubiquitination complex which plays a negative feedback response to attenuate NF-kappaB activation [...] " 9606.ENSP00000259089,BLK,505,"Tyrosine-protein kinase Blk; Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as [...] " 9606.ENSP00000259154,KCTD3,815,BTB/POZ domain-containing protein KCTD3; Accessory subunit of potassium/sodium hyperpolarization- activated cyclic nucleotide-gated channel 3 (HCN3) upregulating its cell-surface expression and current density without affecting its voltage dependence and kinetics; Belongs to the KCTD3 family. 9606.ENSP00000259199,CBWD2,395,COBW domain containing 2; Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. 9606.ENSP00000259205,IL36G,169,"Interleukin-36 gamma; Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinoc [...] " 9606.ENSP00000259206,IL1RN,180,"Interleukin-1 receptor antagonist protein; Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure." 9606.ENSP00000259211,IL36A,158,"Interleukin-36 alpha; Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL- 36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and ce [...] " 9606.ENSP00000259212,IL36RN,155,"Interleukin-36 receptor antagonist protein; Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor. Proposed to play a role in skin inflammation. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. May activate an anti- inflammatory s [...] " 9606.ENSP00000259213,IL36B,164,"Interleukin-36 beta; Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL- 36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Stimulates production of interleukin-6 and interleukin-8 in synovial fibrobasts, articular chondrocytes and mature adipocytes. Induces expression of a number of antimicrobial [...] " 9606.ENSP00000259216,CFC1,223,Cryptic protein; NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation; Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family. 9606.ENSP00000259229,CCDC115,180,"Coiled-coil domain-containing protein 115; Accessory component of the proton-transporting vacuolar (V)- ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation. May be involved in Golgi homeostasis." 9606.ENSP00000259239,IMP4,291,U3 small nucleolar ribonucleoprotein protein IMP4; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. 9606.ENSP00000259241,HS6ST1,411,Heparan-sulfate 6-O-sulfotransferase 1; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid. 9606.ENSP00000259253,UGGT1,1555,"UDP-glucose:glycoprotein glucosyltransferase 1; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation." 9606.ENSP00000259254,GYPC,128,Glycophorin-C; This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells. 9606.ENSP00000259324,LRRC8A,810,"Volume-regulated anion channel subunit LRRC8A; Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Mediates efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. LRRC8A and LRRC8D are required for the uptake of the drug cisplatin. Required for in vivo channel activity, together with at l [...] " 9606.ENSP00000259335,ECPAS,2017,"Proteasome adapter and scaffold protein ECM29; Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolysis. Promotes proteasome dissociation under oxidative stress (By similarity); Belongs to the ECM29 family." 9606.ENSP00000259339,TOR1B,336,Torsin-1B; May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non- neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues. Belongs to the ClpA/ClpB family. Torsin subfamily. 9606.ENSP00000259351,RALGPS1,557,Ras-specific guanine nucleotide-releasing factor RalGPS1; Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for. 9606.ENSP00000259357,OR1J1,322,Olfactory receptor 1J1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000259362,OR13C9,318,Olfactory receptor 13C9; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000259365,TMOD1,359,"Tropomodulin-1; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus." 9606.ENSP00000259371,DAB2IP,1132,"Disabled homolog 2-interacting protein; Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor- mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon [...] " 9606.ENSP00000259392,SLC31A2,143,Probable low affinity copper uptake protein 2; Involved in low-affinity copper uptake. 9606.ENSP00000259396,ORM1,201,Alpha-1-acid glycoprotein 1; Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction; Belongs to the calycin superfamily. Lipocalin family. 9606.ENSP00000259400,STX17,302,"Syntaxin-17; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane. May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum- Golgi intermediat [...] " 9606.ENSP00000259407,BAAT,418,"Bile acid-CoA:amino acid N-acyltransferase; Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine. More than 95% of the BAs are N-acyl amidates with glycine and taurine. Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism. This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin abs [...] " 9606.ENSP00000259455,GABBR2,941,"Gamma-aminobutyric acid type B receptor subunit 2; Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-depend [...] " 9606.ENSP00000259456,HEMGN,484,Hemogen; Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB). 9606.ENSP00000259457,PSMB7,277,"Proteasome subunit beta type-7; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000259466,OR1L4,311,Olfactory receptor 1L4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000259467,PDCL,301,Phosducin-like protein; Acts as a positive regulator of hedgehog signaling and regulates ciliary function. [Isoform 2]: Acts as a negative regulator of heterotrimeric G proteins assembly by trapping the preloaded G beta subunits inside the CCT chaperonin; Belongs to the phosducin family. 9606.ENSP00000259469,RPL35,123,60S ribosomal protein L35; Component of the large ribosomal subunit. 9606.ENSP00000259470,CTSV,334,Cathepsin L2; Cysteine protease. May have an important role in corneal physiology; Belongs to the peptidase C1 family. 9606.ENSP00000259486,ENPP2,915,"Ectonucleotide pyrophosphatase/phosphodiesterase family member 2; Hydrolyzes lysophospholipids to produce the signaling molecule lysophosphatidic acid (LPA) in extracellular fluids. Major substrate is lysophosphatidylcholine. Also can act on sphingosylphosphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP. Involved in several motility-related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubul [...] " 9606.ENSP00000259512,DERL1,251,"Derlin-1; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein. Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for prot [...] " 9606.ENSP00000259526,CCN3,357,"CCN family member 3; Immediate-early protein playing a role in various cellular processes including proliferation, adhesion, migration, differentiation and survival. Acts by binding to integrins or membrane receptors such as NOTCH1. Essential regulator of hematopoietic stem and progenitor cell function. Inhibits myogenic differentiation through the activation of Notch-signaling pathway. Inhibits vascular smooth muscle cells proliferation by increasing expression of cell-cycle regulators such as CDKN2B or CDKN1A independently of TGFB1 signaling. Ligand of integrins ITGAV:ITGB3 and ITGA5 [...] " 9606.ENSP00000259569,RANBP6,1105,Ran-binding protein 6; May function in nuclear protein import as nuclear transport receptor. 9606.ENSP00000259605,RNF38,515,E3 ubiquitin-protein ligase RNF38; Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies. Exhibits preference for UBE2D2 as a E2 enzyme. 9606.ENSP00000259607,CCL21,134,"C-C motif chemokine 21; Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4." 9606.ENSP00000259608,SIT1,196,Signaling threshold-regulating transmembrane adapter 1; Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells. Involved in positive selection of T-cells. 9606.ENSP00000259631,CCL27,112,C-C motif chemokine 27; Chemotactic factor that attracts skin-associated memory T- lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10. 9606.ENSP00000259632,DCTN3,186,Dynactin subunit 3; Together with dynein may be involved in spindle assembly and cytokinesis. 9606.ENSP00000259633,CD72,359,B-cell differentiation antigen CD72; Plays a role in B-cell proliferation and differentiation. 9606.ENSP00000259667,HINT2,163,"Histidine triad nucleotide-binding protein 2, mitochondrial; Hydrolase probably involved in steroid biosynthesis. May play a role in apoptosis. Has adenosine phosphoramidase activity. Belongs to the HINT family." 9606.ENSP00000259698,RIPOR2,1068,"Rho family-interacting cell polarization regulator 2; Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization. Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration. Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maint [...] " 9606.ENSP00000259708,KLC4,637,Kinesin light chain 4; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). 9606.ENSP00000259711,KIF13A,1805,"Kinesin-like protein KIF13A; Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recyclin [...] " 9606.ENSP00000259727,GMPR,345,"GMP reductase 1; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides; Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily." 9606.ENSP00000259746,TMEM63B,832,CSC1-like protein 2; Acts as an osmosensitive calcium-permeable cation channel (By similarity). Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion (By similarity). 9606.ENSP00000259750,TTBK1,1321,"Tau-tubulin kinase 1; Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU." 9606.ENSP00000259782,TINAG,476,Tubulointerstitial nephritis antigen; Mediates adhesion of proximal tubule epithelial cells via integrins alpha3-beta1 and alphaV-beta3. This is a non catalytic peptidase C1 family protein. 9606.ENSP00000259803,GCM1,436,Chorion-specific transcription factor GCMa; Transcription factor involved in the control of expression of placental growth factor (PGF) and other placenta-specific genes. Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer. Binds to the SYDE1 promoter. Has a central role in mediating the differentiation of trophoblast cells along both the villous and extravillous pathways in placental development. 9606.ENSP00000259808,RIPK1,671,"Receptor-interacting serine/threonine-protein kinase 1; Serine-threonine kinase which is a key regulator of both cell death and cell survival. Exhibits kinase activity- dependent functions that trigger cell death and kinase-independent scaffold functions regulating inflammatory signaling and cell survival. Initiates ripoptocide which describes cell death that is dependent on RIPK1, be it apoptosis or necroptosis. Upon binding of TNF to TNFR1, RIPK1 is recruited to the TNF-R1 signaling complex (TNF-RSC also known as complex I) where it acts as a scaffold protein promoting cell survival, [...] " 9606.ENSP00000259818,TUBB2B,445,"Tubulin beta-2B chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non- exchangeable site on the alpha chain (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts. Implicated in neuronal migration. Belongs to the tubulin family." 9606.ENSP00000259845,PSORS1C2,136,Psoriasis susceptibility 1 candidate 2. 9606.ENSP00000259870,C6orf15,325,Uncharacterized protein C6orf15; Chromosome 6 open reading frame 15. 9606.ENSP00000259873,MRPS18B,258,Mitochondrial ribosomal protein S18B; Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mS40 subfamily. 9606.ENSP00000259874,IER3,156,"Radiation-inducible immediate-early gene IEX-1; May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A-PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment." 9606.ENSP00000259881,PSORS1C1,152,Psoriasis susceptibility 1 candidate 1. 9606.ENSP00000259883,PGBD1,809,piggyBac transposable element derived 1. 9606.ENSP00000259895,GTF2H4,462,"General transcription factor IIH subunit 4; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...] " 9606.ENSP00000259915,POU5F1,360,"POU domain, class 5, transcription factor 1; Transcription factor that binds to the octamer motif (5'- ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency. Belongs to the POU transcription factor family. Class-5 subfamily." 9606.ENSP00000259938,CLPS,112,"Colipase; Colipase is a cofactor of pancreatic lipase. It allows the lipase to anchor itself to the lipid-water interface. Without colipase the enzyme is washed off by bile salts, which have an inhibitory effect on the lipase." 9606.ENSP00000259939,RNF144B,303,"E3 ubiquitin-protein ligase RNF144B; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin- dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se." 9606.ENSP00000259951,HLA-F,442,"HLA class I histocompatibility antigen, alpha chain F; Non-classical major histocompatibility class Ib molecule postulated to play a role in immune surveillance, immune tolerance and inflammation. Functions in two forms, as a heterotrimeric complex with B2M/beta-2 microglobulin and a peptide (peptide-bound HLA-F-B2M) and as an open conformer (OC) devoid of peptide and B2M (peptide-free OC). In complex with B2M, presents non-canonical self-peptides carrying post- translational modifications, particularly phosphorylated self-peptides. Peptide-bound HLA-F-B2M acts as a ligand for LILRB1 i [...] " 9606.ENSP00000259953,NRM,262,Nurim. 9606.ENSP00000259963,FAM8A1,413,Protein FAM8A1; Family with sequence similarity 8 member A1. 9606.ENSP00000259983,C6orf52,152,Putative uncharacterized protein C6orf52; Chromosome 6 open reading frame 52. 9606.ENSP00000259989,FGFBP2,223,Fibroblast growth factor binding protein 2. 9606.ENSP00000260010,TLR2,784,"Toll-like receptor 2; Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. May also activate immune cells and promote apoptosis in response to the lipid moiety of lipoproteins. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble [...] " 9606.ENSP00000260045,THAP12,761,"52 kDa repressor of the inhibitor of the protein kinase; Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth." 9606.ENSP00000260102,MRPL15,296,Mitochondrial ribosomal protein L15. 9606.ENSP00000260113,PI15,258,Peptidase inhibitor 15; Serine protease inhibitor which displays weak inhibitory activity against trypsin. May play a role in facial patterning during embryonic development (By similarity). Belongs to the CRISP family. 9606.ENSP00000260116,TTPA,278,"Alpha-tocopherol transfer protein; Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity)." 9606.ENSP00000260118,GGH,318,Gamma-glutamyl hydrolase; Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates; Belongs to the peptidase C26 family. 9606.ENSP00000260126,SLCO5A1,848,Solute carrier organic anion transporter family member 5A1; Belongs to the organo anion transporter (TC 2.A.60) family. 9606.ENSP00000260128,SULF1,871,"Extracellular sulfatase Sulf-1; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C- 6 position of glucosamine within specific subregions of intact heparin. Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation." 9606.ENSP00000260129,TGS1,853,"Trimethylguanosine synthase; Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family." 9606.ENSP00000260184,DDX60L,1706,Probable ATP-dependent RNA helicase DDX60-like; DExD/H-box 60 like; Belongs to the helicase family. 9606.ENSP00000260187,USP2,605,"Ubiquitin carboxyl-terminal hydrolase 2; Hydrolase that deubiquitinates polyubiquitinated target proteins such as MDM2, MDM4 and CCND1. Isoform 1 and isoform 4 possess both ubiquitin-specific peptidase and isopeptidase activities (By similarity). Deubiquitinates MDM2 without reversing MDM2-mediated p53/TP53 ubiquitination and thus indirectly promotes p53/TP53 degradation and limits p53 activity. Has no deubiquitinase activity against p53/TP53. Prevents MDM2-mediated degradation of MDM4. Plays a role in the G1/S cell-cycle progression in normal and cancer cells. Regulates the circadian [...] " 9606.ENSP00000260191,HTR3B,441,"5-hydroxytryptamine receptor 3B; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand- gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel." 9606.ENSP00000260197,SORL1,2214,"Sortilin-related receptor; Sorting receptor that directs several proteins to their correct location within the cell (Probable). Along with AP-1 complex, involved Golgi apparatus - endosome sorting. Sorting receptor for APP, regulating its intracellular trafficking and processing into amyloidogenic-beta peptides. Retains APP in the trans- Golgi network, hence preventing its transit through late endosomes where amyloid beta peptides Abeta40 and Abeta42 are generated. May also sort newly produced amyloid-beta peptides to lysosomes for catabolism. Does not affect APP trafficking from the e [...] " 9606.ENSP00000260210,BUD13,619,BUD13 homolog; Involved in pre-mRNA splicing as component of the activated spliceosome. 9606.ENSP00000260227,MMP7,267,"Matrilysin; Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase." 9606.ENSP00000260228,MMP20,483,"Matrix metalloproteinase-20; Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site." 9606.ENSP00000260229,MMP27,513,"Matrix metalloproteinase-27; Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens." 9606.ENSP00000260247,DCUN1D5,237,DCN1-like protein 5; Defective in cullin neddylation 1 domain containing 5. 9606.ENSP00000260257,FDXACB1,624,Ferredoxin-fold anticodon-binding domain-containing protein 1; Ferredoxin-fold anticodon binding domain containing 1. 9606.ENSP00000260264,POU2F3,438,"POU domain, class 2, transcription factor 3; Transcription factor that binds to the octamer motif (5'- ATTTGCAT-3'). Regulated the expression of a number of genes such as SPRR2A or placental lactogen." 9606.ENSP00000260270,FDX1,184,"Adrenodoxin, mitochondrial; Essential for the synthesis of various steroid hormones. Participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis. Transfers electrons from adrenodoxin reductase to CYP11A1, a cytochrome P450 that catalyzes cholesterol side-chain cleavage. Does not form a ternary complex with adrenodoxin reductase and CYP11A1 but shuttles between the two enzymes to transfer electrons (By similarity). Belongs to the adrenodoxin/putidaredoxin family." 9606.ENSP00000260276,C11orf1,150,UPF0686 protein C11orf1; Chromosome 11 open reading frame 1. 9606.ENSP00000260283,ARHGAP20,1191,Rho GTPase-activating protein 20; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000260302,MMP13,471,"Collagenase 3; Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bon [...] " 9606.ENSP00000260323,UNC13C,2214,Protein unc-13 homolog C; May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity). 9606.ENSP00000260327,CTDSPL2,466,CTD small phosphatase-like protein 2; Probable phosphatase. 9606.ENSP00000260356,THBS1,1170,"Thrombospondin-1; Adhesive glycoprotein that mediates cell-to-cell and cell-to- matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity)." 9606.ENSP00000260361,NDUFAF1,327,"Complex I intermediate-associated protein 30, mitochondrial; Chaperone protein involved in early stages of the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I)." 9606.ENSP00000260363,KIF23,960,Kinesin-like protein KIF23; Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. 9606.ENSP00000260372,HAUS2,235,"HAUS augmin-like complex subunit 2; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex." 9606.ENSP00000260383,TUBGCP4,667,Gamma-tubulin complex component 4; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. 9606.ENSP00000260385,RMDN3,470,Regulator of microtubule dynamics protein 3; Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis; Belongs to the RMDN family. 9606.ENSP00000260386,ITPKA,461,Inositol-trisphosphate 3-kinase A; Belongs to the inositol phosphokinase (IPK) family. 9606.ENSP00000260402,PLCB2,1185,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes." 9606.ENSP00000260403,TMEM62,643,Transmembrane protein 62. 9606.ENSP00000260408,ADAM10,748,"Disintegrin and metalloproteinase domain-containing protein 10; Cleaves the membrane-bound precursor of TNF-alpha at '76- Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP). Contributes to the normal cleavage of the cellular prion protein. Involved in the cl [...] " 9606.ENSP00000260443,RSL24D1,163,Probable ribosome biogenesis protein RLP24; Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity); Belongs to the eukaryotic ribosomal protein eL24 family. 9606.ENSP00000260447,GCHFR,84,GTP cyclohydrolase 1 feedback regulatory protein; Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine. 9606.ENSP00000260453,MNS1,495,Meiosis-specific nuclear structural protein 1; May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis; Belongs to the MNS1 family. 9606.ENSP00000260502,BCAR3,825,"Breast cancer anti-estrogen resistance protein 3; Acts as an adapter protein downstream of several growth factor receptors to promote cell proliferation, migration, and redistribution of actin fibers. Specifically involved in INS/insulin signaling pathway by mediating MAPK1/ERK2-MAPK3/ERK1 activation and DNA synthesis. Promotes insulin- mediated membrane ruffling (By similarity). In response to vasoconstrictor peptide EDN1, involved in the activation of RAP1 downstream of PTK2B via interaction with phosphorylated BCAR1. Inhibits cell migration and invasion via regulation of TGFB-mediat [...] " 9606.ENSP00000260505,TTLL7,887,Tubulin polyglutamylase TTLL7; Polyglutamylase which preferentially modifies beta-tubulin. Mediates both ATP-dependent initiation and elongation of polyglutamylation of microtubules. Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity); Belongs to the tubulin--tyrosine ligase family. 9606.ENSP00000260508,KYAT3,454,"Kynurenine--oxoglutarate transaminase 3; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L- (seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By sim [...] " 9606.ENSP00000260526,ARHGAP29,1261,"Rho GTPase-activating protein 29; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis." 9606.ENSP00000260563,RTCA,379,"RNA 3'-terminal phosphate cyclase; Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA-N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'-phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing; Belongs to the RNA 3'-terminal cyclase family. Type 1 subfamily." 9606.ENSP00000260570,IFT172,1749,"Intraflagellar transport protein 172 homolog; Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity); Belongs to the IFT172 family." 9606.ENSP00000260585,SELENOI,397,Ethanolaminephosphotransferase 1; Catalyzes phosphatidylethanolamine biosynthesis from CDP- ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via 'Kennedy' pathway. 9606.ENSP00000260599,KHK,298,Ketohexokinase; Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate. 9606.ENSP00000260643,PREB,417,Prolactin regulatory element-binding protein; Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitment of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER. 9606.ENSP00000260649,SLC3A1,685,"Neutral and basic amino acid transport protein rBAT; Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule." 9606.ENSP00000260653,SIX3,332,"Homeobox protein SIX3; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, Six3 activity is re [...] " 9606.ENSP00000260665,LRPPRC,1394,"Leucine-rich PPR motif-containing protein, mitochondrial; May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mito [...] " 9606.ENSP00000260682,CYP2C9,490,"Cytochrome P450 2C9; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulato [...] " 9606.ENSP00000260702,LOXL4,756,Lysyl oxidase homolog 4; May modulate the formation of a collagenous extracellular matrix. 9606.ENSP00000260723,BTBD16,506,BTB/POZ domain-containing protein 16; BTB domain containing 16. 9606.ENSP00000260731,KIF11,1056,Kinesin-like protein KIF11; Motor protein required for establishing a bipolar spindle during mitosis. Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface ; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily. 9606.ENSP00000260743,CALHM2,323,Calcium homeostasis modulator protein 2; Pore-forming subunit of a voltage-gated ion channel. 9606.ENSP00000260746,ARL3,182,"ADP-ribosylation factor-like protein 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E. Targets NPHP3 to the ciliar [...] " 9606.ENSP00000260762,EXOC6,804,"Exocyst complex component 6; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity)." 9606.ENSP00000260803,DBR1,544,Lariat debranching enzyme; Cleaves the 2'-5' phosphodiester linkage at the branch point of lariat intron pre-mRNAs after splicing and converts them into linear molecules that are subsequently degraded. It thereby facilitates ribonucleotide turnover. It may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis. Belongs to the lariat debranching enzyme family. 9606.ENSP00000260810,TOPBP1,1522,DNA topoisomerase 2-binding protein 1; Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control. Binds double-stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase activity of ATR. 9606.ENSP00000260818,DNAJC13,2243,"DnaJ homolog subfamily C member 13; Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR. Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex." 9606.ENSP00000260843,GPR87,358,G-protein coupled receptor 87; Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage. Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000260947,BARD1,777,"BRCA1-associated RING domain protein 1; E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II [...] " 9606.ENSP00000260950,MSTN,375,Growth/differentiation factor 8; Acts specifically as a negative regulator of skeletal muscle growth; Belongs to the TGF-beta family. 9606.ENSP00000260952,ASNSD1,643,Asparagine synthetase domain containing 1. 9606.ENSP00000260953,METTL5,209,Methyltransferase-like protein 5; Probable methyltransferase. 9606.ENSP00000260970,PPIG,754,"Peptidyl-prolyl cis-trans isomerase G; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing." 9606.ENSP00000260983,HECW2,1572,E3 ubiquitin-protein ligase HECW2; E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73. Involved in the regulation of mitotic metaphase/anaphase transition. 9606.ENSP00000260988,CRYGB,175,Gamma-crystallin B; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000261007,CHRNA1,482,"Acetylcholine receptor subunit alpha; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane." 9606.ENSP00000261015,WDR12,423,"Ribosome biogenesis protein WDR12; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome." 9606.ENSP00000261023,ITGAV,1048,"Integrin alpha-V heavy chain; The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase- 2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1- dependent fractalkine signaling. ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling. ITGAV:ITGB [...] " 9606.ENSP00000261024,SLC40A1,571,Solute carrier family 40 member 1; May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin); Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily. 9606.ENSP00000261037,COL8A1,744,"Collagen alpha-1(VIII) chain; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis." 9606.ENSP00000261038,SLC49A4,478,Solute carrier family 49 member 4; Electrogenic metabolite transporter. Belongs to the major facilitator superfamily. 9606.ENSP00000261047,GUCA1C,209,Guanylyl cyclase-activating protein 3; Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of guanylyl cyclase (GC) is a key event in recovery of the dark state of rod photoreceptors following light exposure. 9606.ENSP00000261058,CCDC54,328,Coiled-coil domain containing 54. 9606.ENSP00000261070,COX17,63,"Cytochrome c oxidase copper chaperone; Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2)." 9606.ENSP00000261167,WBP11,641,WW domain-binding protein 11; Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity. 9606.ENSP00000261170,GUCY2C,1073,Heat-stable enterotoxin receptor; Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin. 9606.ENSP00000261172,EPYC,322,Epiphycan; May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily. 9606.ENSP00000261177,TSPAN11,253,Tetraspanin-11; Tetraspanin 11. 9606.ENSP00000261180,TRHDE,1024,Thyrotropin-releasing hormone-degrading ectoenzyme; Specific inactivation of TRH after its release; Belongs to the peptidase M1 family. 9606.ENSP00000261183,OSBPL8,889,"Oxysterol-binding protein-related protein 8; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner. Binds oxysterol, 25- hydroxycholesterol and cholesterol. Belongs to the OSBP family." 9606.ENSP00000261191,INTS13,706,"Integrator complex subunit 13; Crucial regulator of the mitotic cell cycle and development. At prophase, required for dynein anchoring to the nuclear envelope important for proper centrosome-nucleus coupling. At G2/M phase, may be required for proper spindle formation and execution of cytokinesis. Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing." 9606.ENSP00000261195,GYS2,703,"Glycogen [starch] synthase, liver; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan." 9606.ENSP00000261196,SLCO1B3,702,"Solute carrier organic anion transporter family member 1B3; Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver; Belongs to the organo anion transporter (TC 2.A.60) family." 9606.ENSP00000261200,ABCC9,1549,ATP-binding cassette sub-family C member 9; Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 9606.ENSP00000261205,SYT1,422,Synaptotagmin-1; Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)- dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-in [...] 9606.ENSP00000261208,HAL,657,Histidine ammonia-lyase. 9606.ENSP00000261211,CDK17,523,Cyclin-dependent kinase 17; May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 (By similarity). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. 9606.ENSP00000261226,TMCC3,477,Transmembrane and coiled-coil domain family 3; Belongs to the TEX28 family. 9606.ENSP00000261233,IRAK3,596,Interleukin-1 receptor-associated kinase 3; Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex. 9606.ENSP00000261234,RXYLT1,443,"Ribitol-5-phosphate xylosyltransferase 1; UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3- N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (Probable). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4- xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O [...] " 9606.ENSP00000261245,MNAT1,309,"CDK-activating kinase assembly factor MAT1; Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II." 9606.ENSP00000261249,TRMT5,509,"tRNA (guanine(37)-N1)-methyltransferase; Involved in mitochondrial tRNA methylation. Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding." 9606.ENSP00000261250,C12orf4,552,Protein C12orf4; Plays a role in mast cell degranulation. 9606.ENSP00000261254,CCND2,289,G1/S-specific cyclin-D2; Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...] 9606.ENSP00000261263,RAB21,225,"Ras-related protein Rab-21; Regulates integrin internalization and recycling, but does not influence the traffic of endosomally translocated receptors in general (By similarity). As a result, may regulate cell adhesion and migration (By similarity). During the mitosis of adherent cells, controls the endosomal trafficking of integrins which is required for the successful completion of cytokinesis. Involved in neurite growth (By similarity). Following SBF2/MTMT13-mediated activation in response to starvation-induced autophagy, binds to and regulates SNARE protein VAMP8 endolysosomal tran [...] " 9606.ENSP00000261267,LYZ,148,Lysozyme C; Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents. 9606.ENSP00000261275,FAM189A1,539,Protein FAM189A1; Family with sequence similarity 189 member A1; Belongs to the FAM189 family. 9606.ENSP00000261292,LIPG,500,Endothelial lipase; Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin; Belongs to the AB hydrolase superfamily. Lipase family. 9606.ENSP00000261296,TGDS,350,"TDP-glucose 4,6-dehydratase." 9606.ENSP00000261303,PSMC1,440,"26S proteasome regulatory subunit 4; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with [...] " 9606.ENSP00000261304,GALC,685,"Galactocerebrosidase; Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon; Belongs to the glycosyl hydrolase 59 family." 9606.ENSP00000261308,PPWD1,646,Peptidylprolyl isomerase domain and WD repeat-containing protein 1; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. May be involved in pre-mRNA splicing ; Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily. 9606.ENSP00000261313,PEBP1,187,"Hippocampal cholinergic neurostimulating peptide; Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase (By similarity). Inhibits the kinase activity of RAF1 by inhibiting its activation and by dissociating the RAF1/MEK complex and acting as a competitive inhibitor of MEK phosphorylation." 9606.ENSP00000261318,C12orf49,205,UPF0454 protein C12orf49; Belongs to the UPF0454 family. 9606.ENSP00000261326,MOCOS,888,"Molybdenum cofactor sulfurase; Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily." 9606.ENSP00000261336,PZP,1482,"Pregnancy zone protein; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the c [...] " 9606.ENSP00000261340,CLEC2D,194,C-type lectin domain family 2 member D; Receptor for KLRB1 that protects target cells against natural killer cell-mediated lysis. Inhibits osteoclast formation. Inhibits bone resorption. Modulates the release of interferon-gamma. Binds high molecular weight sulfated glycosaminoglycans. 9606.ENSP00000261349,LRP6,1613,"Low-density lipoprotein receptor-related protein 6; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of [...] " 9606.ENSP00000261366,LMNB1,586,"Lamin-B1; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin." 9606.ENSP00000261367,SNCAIP,1016,"Synphilin-1; Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1." 9606.ENSP00000261369,SNX24,169,Sorting nexin-24; May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family. 9606.ENSP00000261374,HS3ST2,367,"Heparan sulfate glucosamine 3-O-sulfotransferase 2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate." 9606.ENSP00000261377,REXO5,774,RNA exonuclease 5. 9606.ENSP00000261381,XYLT1,959,"Xylosyltransferase 1; Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D- xylose from UDP-D-xylose to specific serine residues of the core protein. Required for normal embryonic and postnatal skeleton development, especially of the long bones. Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity). Belongs to the glycosyltransferase 14 family. XylT subfamily." 9606.ENSP00000261383,DNAH3,4116,"Dynein heavy chain 3, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity); Belongs to the dynein heavy chain family." 9606.ENSP00000261386,GDE1,331,Glycerophosphodiester phosphodiesterase 1; Has glycerophosphoinositol phosphodiesterase activity. Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Has little or no activity towards glycerophosphocholine. GDE1 activity can be modulated by G-protein signaling pathways (By similarity). 9606.ENSP00000261396,NUP133,1156,Nuclear pore complex protein Nup133; Involved in poly(A)+ RNA transport. Involved in nephrogenesis. 9606.ENSP00000261402,NUAK1,661,"NUAK family SNF1-like kinase 1; Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP [...] " 9606.ENSP00000261405,VWF,2813,"Von Willebrand antigen 2; Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet- surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma." 9606.ENSP00000261407,LPCAT3,487,"Lysophospholipid acyltransferase 5; Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L- serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compa [...] " 9606.ENSP00000261416,HEXB,556,"Beta-hexosaminidase subunit beta chain A; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues; Belongs to the glycosyl hydrolase 20 family." 9606.ENSP00000261427,UBE2K,200,"Ubiquitin-conjugating enzyme E2 K; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam [...] " 9606.ENSP00000261435,N4BP2,1770,NEDD4-binding protein 2; Has 5'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination. 9606.ENSP00000261438,KLF3,345,Krueppel-like factor 3; Binds to the CACCC box of erythroid cell-expressed genes. May play a role in hematopoiesis (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000261439,TBC1D1,1168,TBC1 domain family member 1; May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity). 9606.ENSP00000261441,RSBN1,802,"Lysine-specific demethylase 9; Histone demethylase that specifically demethylates dimethylated 'Lys-20' of histone H4 (H4K20me2), thereby modulating chromosome architecture." 9606.ENSP00000261448,CASQ2,399,"Calsequestrin-2; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats." 9606.ENSP00000261461,PPP2R5A,486,"Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment." 9606.ENSP00000261464,TRAF5,557,TNF receptor-associated factor 5; Adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. Mediates activation of NF-kappa-B and probably JNK. Seems to be involved in apoptosis. Plays a role in mediating activation of NF- kappa-B by EIF2AK2/PKR. 9606.ENSP00000261475,PPP2R3C,453,Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma; May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex. May play a role in the activation-induced cell death of B-cells (By similarity). 9606.ENSP00000261479,PSMA6,246,"Proteasome subunit alpha type-6; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000261483,MAN2A1,1144,Alpha-mannosidase 2; Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N- glycans; the final hydrolytic step in the N-glycan maturation pathway. 9606.ENSP00000261488,ENOX1,643,Protein disulfide-thiol oxidoreductase; Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock. 9606.ENSP00000261497,USP22,525,"Ubiquitin carboxyl-terminal hydrolase 22; Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression." 9606.ENSP00000261499,B9D1,204,"B9 domain-containing protein 1; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity); Belongs to the B9D family." 9606.ENSP00000261503,SPECC1,1068,Cytospin-B; Sperm antigen with calponin homology and coiled-coil domains 1. 9606.ENSP00000261507,MSMO1,293,"Methylsterol monooxygenase 1; Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol; Belongs to the sterol desaturase family." 9606.ENSP00000261514,CLCN3,866,"H(+)/Cl(-) exchange transporter 3; Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory." 9606.ENSP00000261520,ICE2,982,"Little elongation complex subunit 2; Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III." 9606.ENSP00000261523,RORA,556,"Nuclear receptor ROR-alpha; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity [...] " 9606.ENSP00000261530,GPATCH2L,482,G patch domain-containing protein 2-like; G-patch domain containing 2 like. 9606.ENSP00000261534,POMT2,750,"Protein O-mannosyl-transferase 2; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins. Belongs to the glycosyltransferase 39 family." 9606.ENSP00000261537,MIB1,1006,"E3 ubiquitin-protein ligase MIB1; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits p [...] " 9606.ENSP00000261556,TMEM260,707,Transmembrane protein 260; Belongs to the TMEM260 family. 9606.ENSP00000261558,AP5M1,490,"AP-5 complex subunit mu-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to it may play a role in cell death." 9606.ENSP00000261560,ZNF430,570,Zinc finger protein 430; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000261574,IPO5,1115,"Importin-5; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis rel [...] " 9606.ENSP00000261584,PALB2,1186,"Partner and localizer of BRCA2; Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand- invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombina [...] " 9606.ENSP00000261588,KIAA0556,1618,"Protein KIAA0556; May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex." 9606.ENSP00000261590,DSG2,1118,Desmoglein-2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. 9606.ENSP00000261592,NOL4,638,Nucleolar protein 4. 9606.ENSP00000261593,RNF138,245,"E3 ubiquitin-protein ligase RNF138; E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination. Recruited to sites of double-strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination. Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku complex [...] " 9606.ENSP00000261596,LPIN2,896,"Phosphatidate phosphatase LPIN2; Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity)." 9606.ENSP00000261597,NDC80,642,"Kinetochore protein NDC80 homolog; Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules. Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spind [...] " 9606.ENSP00000261600,THOC1,657,"THO complex subunit 1; Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre- mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the T [...] " 9606.ENSP00000261601,USP14,494,Ubiquitin carboxyl-terminal hydrolase 14; Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibi [...] 9606.ENSP00000261609,HERC2,4834,E3 ubiquitin-protein ligase HERC2; E3 ubiquitin-protein ligase that regulates ubiquitin- dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage- induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscil [...] 9606.ENSP00000261622,SLC7A5,507,"Large neutral amino acids transporter small subunit 1; The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan. Functions as an amino acid exchanger. May play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May act as the major transporter of tyrosine in fibroblasts (Probable). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). Can med [...] " 9606.ENSP00000261623,CYBA,195,Cytochrome b-245 light chain; Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide. Belongs to the p22phox family. 9606.ENSP00000261636,ARL1,181,"ADP-ribosylation factor-like protein 1; GTP-binding protein that recruits several effectors, such as golgins, arfaptins and Arf-GEFs to the trans-Golgi network, and modulates their functions at the Golgi complex. Plays thereby a role in a wide range of fundamental cellular processes, including cell polarity, innate immunity, or protein secretion mediated by arfaptins, which were shown to play a role in maintaining insulin secretion from pancreatic beta cells." 9606.ENSP00000261637,UTP20,2785,Small subunit processome component 20 homolog; Involved in 18S pre-rRNA processing. Associates with U3 snoRNA. 9606.ENSP00000261643,COX10,443,"Protoheme IX farnesyltransferase, mitochondrial; Converts protoheme IX and farnesyl diphosphate to heme O. Belongs to the UbiA prenyltransferase family." 9606.ENSP00000261647,TTC19,380,"Tetratricopeptide repeat protein 19, mitochondrial; Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity." 9606.ENSP00000261652,TNFRSF13B,293,"Tumor necrosis factor receptor superfamily member 13B; Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin- dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity." 9606.ENSP00000261655,RIMBP2,1052,"RIMS-binding protein 2; Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B." 9606.ENSP00000261658,BFAR,450,"Bifunctional apoptosis regulator; Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors." 9606.ENSP00000261667,KPNA3,521,"Importin subunit alpha-4; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are [...] " 9606.ENSP00000261681,MPP5,675,MAGUK p55 subfamily member 5; Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells. Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity. Required during embryonic and postnatal retinal development (By similarity). Required for the maintenance of cerebell [...] 9606.ENSP00000261692,CDK2AP1,115,Cyclin-dependent kinase 2-associated protein 1; specific inhibitor of the cell-cycle kinase CDK2. 9606.ENSP00000261693,SCARB1,509,"Scavenger receptor class B member 1; Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells. Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity. Belongs to the CD36 family." 9606.ENSP00000261700,RTRAF,244,"RNA transcription, translation and transport factor protein; RNA-binding protein involved in modulation of mRNA transcription by Polymerase II. Component of the tRNA-splicing ligase complex and is required for tRNA ligation. May be required for RNA transport." 9606.ENSP00000261707,SLC6A4,630,Sodium-dependent serotonin transporter; Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner. 9606.ENSP00000261708,UTP6,597,U3 small nucleolar RNA-associated protein 6 homolog; Involved in nucleolar processing of pre-18S ribosomal RNA. Belongs to the UTP6 family. 9606.ENSP00000261712,PSMD11,422,"26S proteasome non-ATPase regulatory subunit 11; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. P [...] " 9606.ENSP00000261714,BLMH,455,"Bleomycin hydrolase; The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B- aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity." 9606.ENSP00000261716,TAOK1,1001,"Serine/threonine-protein kinase TAO1; Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK1 [...] " 9606.ENSP00000261721,BTBD1,482,"BTB/POZ domain-containing protein 1; Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity)." 9606.ENSP00000261726,CUX2,1486,"Homeobox protein cut-like 2; Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a sequence- specific manner." 9606.ENSP00000261731,LHX5,402,LIM/homeobox protein Lhx5; Plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system. 9606.ENSP00000261733,ALDH2,517,"Aldehyde dehydrogenase, mitochondrial; Aldehyde dehydrogenase 2 family member; Belongs to the aldehyde dehydrogenase family." 9606.ENSP00000261735,ERP29,261,"Endoplasmic reticulum resident protein 29; Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER." 9606.ENSP00000261739,ANKRD13A,590,Ankyrin repeat domain-containing protein 13A; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. 9606.ENSP00000261745,NAA25,972,"N-alpha-acetyltransferase 25, NatB auxiliary subunit; Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp-Glu. May play a role in normal cell-cycle progression. Belongs to the MDM20/NAA25 family." 9606.ENSP00000261751,CHRNB4,498,"Neuronal acetylcholine receptor subunit beta-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-4/CHRNB4 sub- subfamily." 9606.ENSP00000261758,MESD,234,"LRP chaperone MESD; Chaperone specifically assisting the folding of beta- propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By simi [...] " 9606.ENSP00000261769,CDH1,882,"Cadherin-1; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7. (Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria." 9606.ENSP00000261772,AARS1,968,"Alanine--tRNA ligase, cytoplasmic; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000261776,VAC14,782,"Protein VAC14 homolog; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes." 9606.ENSP00000261778,TANGO6,1094,Transport and golgi organization 6 homolog. 9606.ENSP00000261783,ARG2,354,"Arginase-2, mitochondrial; May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells. May suppress inflammation- related signaling in asthmatic airway epithelium. May contribute to the immune evasion of H.pylori by restricting [...] " 9606.ENSP00000261789,TM9SF1,606,Transmembrane 9 superfamily member 1; Plays an essential role in autophagy. Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family. 9606.ENSP00000261796,IL17B,180,Interleukin-17B; Stimulates the release of tumor necrosis factor alpha and IL- 1-beta from the monocytic cell line THP-1. 9606.ENSP00000261797,NDST1,882,"Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate [...] " 9606.ENSP00000261798,CSNK1A1,365,"Casein kinase I isoform alpha; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates CTNNB1 at 'Ser-45'. May phosphorylate PER1 and PER2. May play a role in segregating chromosomes during mitosis. May play a role in keratin cytoskeleton disassembly and thereby, it may regulate epithelial cell migration." 9606.ENSP00000261799,PDGFRB,1106,"Platelet-derived growth factor receptor beta; Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at v [...] " 9606.ENSP00000261800,FAT2,4349,Protocadherin Fat 2; Involved in the regulation of cell migration. May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity). 9606.ENSP00000261811,CYSTM1,97,Cysteine-rich and transmembrane domain-containing protein 1; Cysteine rich transmembrane module containing 1. 9606.ENSP00000261813,PFDN1,122,Prefoldin subunit 1; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. 9606.ENSP00000261819,ANAPC5,755,"Anaphase-promoting complex subunit 5; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains." 9606.ENSP00000261835,CYP46A1,500,"Cholesterol 24-hydroxylase; P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation. By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (By similarity). Further hydroxylates cholesterol derivatives and hormone steroids on both the [...] " 9606.ENSP00000261837,GNB5,395,"Guanine nucleotide-binding protein subunit beta-5; Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors. May play an important role in neuronal signaling, including in the par [...] " 9606.ENSP00000261839,MYO5C,1742,Unconventional myosin-Vc; May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues. 9606.ENSP00000261842,AP4E1,1137,AP-4 complex subunit epsilon-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper [...] 9606.ENSP00000261845,MAPK6,721,"Mitogen-activated protein kinase 6; Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase s [...] " 9606.ENSP00000261854,SPPL2A,520,"Signal peptide peptidase-like 2A; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD). May play a role in the regulation of innate and [...] " 9606.ENSP00000261858,GLCE,617,"D-glucuronyl C5-epimerase; Converts D-glucuronic acid residues adjacent to N-sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins; Belongs to the D-glucuronyl C5-epimerase family." 9606.ENSP00000261861,CORO2B,480,Coronin-2B; May play a role in the reorganization of neuronal actin structure; Belongs to the WD repeat coronin family. 9606.ENSP00000261866,SPG11,2443,Spatacsin; May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport. 9606.ENSP00000261867,SLC30A4,429,"Zinc transporter 4; Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily." 9606.ENSP00000261868,EIF3J,258,"Eukaryotic translation initiation factor 3 subunit J; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination riboso [...] " 9606.ENSP00000261875,HACD3,362,"Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursor [...] " 9606.ENSP00000261879,APH1B,257,"Gamma-secretase subunit APH-1B; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A; Belongs to the APH-1 family." 9606.ENSP00000261880,AAGAB,315,Alpha- and gamma-adaptin-binding protein p34; May be involved in endocytic recycling of growth factor receptors such as EGFR. 9606.ENSP00000261881,TIPIN,301,"TIMELESS-interacting protein; Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Important for cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic st [...] " 9606.ENSP00000261883,CILP,1184,"Cartilage intermediate layer protein 1 C1; Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage." 9606.ENSP00000261884,TRIP4,581,"Activating signal cointegrator 1; Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription. May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions. Plays a role in thyroid hormone receptor and estrogen receptor transactivation. Also involved in androgen receptor transactivation (By similarity). Plays a pivotal role in the transactivation of NF-kap [...] " 9606.ENSP00000261888,PARP16,323,"Protein mono-ADP-ribosyltransferase PARP16; Intracellular mono-ADP-ribosyltransferase that may play a role in different processes through the mono-ADP-ribosylation of proteins involved in those processes. May play a role in the unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors. May also mediate mono-ADP- ribosylation of karyopherin KPNB1 a nuclear import factor. May not modify proteins on arginine or cysteine residues compared to other mono-ADP-ribosyltransferases." 9606.ENSP00000261889,SNX1,557,"Sorting nexin-1; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts in part as component of the retromer membrane- deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called e [...] " 9606.ENSP00000261890,RAB11A,216,"Ras-related protein Rab-11A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The small Rab GTPase RAB11A regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial c [...] " 9606.ENSP00000261892,SLC24A1,1099,"Sodium/potassium/calcium exchanger 1; Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)." 9606.ENSP00000261893,LACTB,547,"Serine beta-lactamase-like protein LACTB, mitochondrial; Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism. Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism. It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein. Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cell [...] " 9606.ENSP00000261900,CCNT1,726,"Cyclin-T1; Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which is proposed to facilitate the transition from abortive to productive elongation by phosphorylating the CTD (C- terminal domain) of the large subunit of RNA polymerase II (RNA Pol II)." 9606.ENSP00000261917,HCN4,1203,Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4; Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat. May contribute to the native pacemaker currents in neurons (Ih). May mediate responses to sour stimuli. 9606.ENSP00000261918,SEMA7A,666,"Semaphorin-7A; Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes; Belongs to the sem [...] " 9606.ENSP00000261921,LOXL1,574,Lysyl oxidase homolog 1; Active on elastin and collagen substrates. 9606.ENSP00000261937,FLT4,1363,"Vascular endothelial growth factor receptor 3; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by [...] " 9606.ENSP00000261942,FAF2,445,"FAS-associated factor 2; Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway. Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis." 9606.ENSP00000261965,TUBGCP3,907,Gamma-tubulin complex component 3; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. 9606.ENSP00000261973,RBM25,843,"RNA-binding protein 25; RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5'-splice site (5'-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5'-ss usage through the 5'-CGGGCA-3' RNA sequence. Its association with LUC7 [...] " 9606.ENSP00000261978,LTBP2,1821,Latent-transforming growth factor beta-binding protein 2; May play an integral structural role in elastic-fiber architectural organization and/or assembly. Belongs to the LTBP family. 9606.ENSP00000261980,VSX2,361,"Visual system homeobox 2; Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters. Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Mediates differentiation of V2a interneurons by repression of motor neuron gene transcription, via competitively binding to response elements that are activated by the ISL1-LHX3 complex, such as VSX1. Acts as a positive transcriptional regulator of NXNL1; regulation is significantly increased in synergy with VSX1 (By similar [...] " 9606.ENSP00000261994,SERPINA10,444,"Protein Z-dependent protease inhibitor; Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors; Belongs to the serpin family." 9606.ENSP00000262013,SPAG9,1321,C-Jun-amino-terminal kinase-interacting protein 4; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg- interaction. Regulates lysosomal positioning by acting as an adapter protein which links PIP4P1-positive lysosomes to the dynein-dynactin complex. 9606.ENSP00000262018,SGCA,387,"Alpha-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix." 9606.ENSP00000262027,MARS1,900,"Methionine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Plays a role in the synthesis of ribosomal RNA in the nucleolus. Belongs to the class-I aminoacyl-tRNA synthetase family." 9606.ENSP00000262030,ATP5F1B,529,"ATP synthase subunit beta, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the c [...] " 9606.ENSP00000262031,RBMS2,407,"RNA-binding motif, single-stranded-interacting protein 2; RNA binding motif single stranded interacting protein 2." 9606.ENSP00000262039,PIK3C3,887,"Phosphatidylinositol 3-kinase catalytic subunit type 3; Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2. Involved in the transport of lysosomal enzyme precursors to lysosomes. Requ [...] " 9606.ENSP00000262041,MEOX2,304,"Homeobox protein MOX-2; Mesodermal transcription factor that plays a key role in somitogenesis and is required for sclerotome development (By similarity). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle." 9606.ENSP00000262043,PHF3,2039,PHD finger protein 3. 9606.ENSP00000262053,ATF1,271,"Cyclic AMP-dependent transcription factor ATF-1; This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation." 9606.ENSP00000262065,MMD,238,Monocyte to macrophage differentiation factor; Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion. 9606.ENSP00000262067,TSPAN13,204,Tetraspanin-13; Tetraspanin 13. 9606.ENSP00000262094,RAB27B,218,"Ras-related protein Rab-27B; Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion. Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the association of NTRK2/TRKB with KLC1. May be involved in targeting uroplakins to urothelial apical membranes (By similarity)." 9606.ENSP00000262096,ZDHHC2,367,Palmitoyltransferase ZDHHC2; Palmitoyltransferase specific for GAP43 and DLG4/PSD95. Belongs to the DHHC palmitoyltransferase family. 9606.ENSP00000262102,MTUS1,1270,"Microtubule-associated tumor suppressor 1; Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth." 9606.ENSP00000262103,EFCAB1,211,EF-hand calcium-binding domain-containing protein 1; EF-hand calcium binding domain 1. 9606.ENSP00000262105,MCM4,863,"DNA replication licensing factor MCM4; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] " 9606.ENSP00000262109,ERICH1,443,Glutamate-rich protein 1; Glutamate rich 1. 9606.ENSP00000262113,MYOM2,1465,"Myomesin-2; Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent." 9606.ENSP00000262120,TWSG1,223,"Twisted gastrulation protein homolog 1; May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity); Belongs to the twisted gastrulation protei [...] " 9606.ENSP00000262126,ANKRD12,2062,Ankyrin repeat domain-containing protein 12; May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. 9606.ENSP00000262127,CEP76,659,Centrosomal protein of 76 kDa; Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication. Belongs to the CEP76 family. 9606.ENSP00000262133,RBL2,1139,"Retinoblastoma-like protein 2; Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially [...] " 9606.ENSP00000262134,LPCAT2,544,"Lysophosphatidylcholine acyltransferase 2; Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-dependent. Involved in platelet- activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, ac [...] " 9606.ENSP00000262138,CACNG4,327,"Voltage-dependent calcium channel gamma-4 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit. Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily." 9606.ENSP00000262139,WIPI1,446,"WD repeat domain phosphoinositide-interacting protein 1; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Plays an important role in starvation- and calcium- mediated autophagy, as well as in mitophagy. Functions downstream of the ULK1 and PI3-kinases that produce phosphatidylinositol 3-phosphate (PtdIns3P) on membranes of the endoplasmic reticulum once activated. Binds phosphatidylinositol 3-phosphate (PtdIns3P), and maybe other phos [...] " 9606.ENSP00000262144,WDR59,974,"GATOR complex protein WDR59; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1." 9606.ENSP00000262146,MTFR1,333,Mitochondrial fission regulator 1; May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity). 9606.ENSP00000262150,CDH19,772,Cadherin-19; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000262158,SMAD7,426,"Mothers against decapentaplegic homolog 7; Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a [...] " 9606.ENSP00000262160,SMAD2,467,"Mothers against decapentaplegic homolog 2; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator." 9606.ENSP00000262177,DNAJB6,326,"DnaJ homolog subfamily B member 6; Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity." 9606.ENSP00000262178,VIPR2,438,"Vasoactive intestinal polypeptide receptor 2; This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C." 9606.ENSP00000262186,KCNH2,1159,"Potassium voltage-gated channel subfamily H member 2; Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). [Isoform B-USO]: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin- dependent degradation." 9606.ENSP00000262187,RHEB,184,"GTP-binding protein Rheb; Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity." 9606.ENSP00000262188,SMARCD3,483,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Stimulates nuclear receptor mediated transcription. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-spec [...] " 9606.ENSP00000262189,KMT2C,4911,"Histone-lysine N-methyltransferase 2C; Histone methyltransferase that methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily." 9606.ENSP00000262193,PSMB1,241,"Proteasome subunit beta type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000262198,ADNP2,1131,Activity-dependent neuroprotector homeobox protein 2; May be involved in transcriptional regulation. 9606.ENSP00000262207,CRISPLD1,500,Cysteine rich secretory protein LCCL domain containing 1; Belongs to the CRISP family. 9606.ENSP00000262209,TRPA1,1119,"Transient receptor potential cation channel subfamily A member 1; Receptor-activated non-selective cation channel involved in pain detection and possibly also in cold perception, oxygen concentration perception, cough, itch, and inner ear function. Shows 8-fold preference for divalent over monovalent cations. Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of irritants, such as allylthiocyanate (AITC) from mustard oil or wasabi, cinnamaldehyde, diallyl disulfide (DADS) from garlic, and acrolein, an irritant from tears gas and vehicule [...] " 9606.ENSP00000262210,CSPP1,1221,Centrosome and spindle pole-associated protein 1; May play a role in cell-cycle-dependent microtubule organization. 9606.ENSP00000262213,TRAM1,374,Translocating chain-associated membrane protein 1; Stimulatory or required for the translocation of secretory proteins across the ER membrane. 9606.ENSP00000262215,ARFGEF1,1849,Brefeldin A-inhibited guanine nucleotide-exchange protein 1; Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and [...] 9606.ENSP00000262219,ANXA13,357,Annexin A13; [Isoform A]: Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner. Half-maximal membrane binding requires about 60 uM calcium. Does not bind to membranes that lack phospholipids with an acidic headgroup. 9606.ENSP00000262225,TMED2,201,Transmembrane emp24 domain-containing protein 2; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle- mediated anterograde transport involved in the transport of GPI- anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of th [...] 9606.ENSP00000262238,YY1,414,Transcriptional repressor protein YY1; Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activa [...] 9606.ENSP00000262241,RCOR1,485,"REST corepressor 1; Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase a [...] " 9606.ENSP00000262244,MOB3B,216,MOB kinase activator 3B; Modulates LATS1 expression in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. 9606.ENSP00000262259,ZNF175,711,Zinc finger protein 175; Down-regulates the expression of several chemokine receptors. Interferes with HIV-1 replication by suppressing Tat-induced viral LTR promoter activity. 9606.ENSP00000262262,CD33,364,"Myeloid cell surface antigen CD33; Sialic-acid-binding immunoglobulin-like lectin (Siglec) that plays a role in mediating cell-cell interactions and in maintaining immune cells in a resting state. Preferentially recognizes and binds alpha-2,3- and more avidly alpha-2,6-linked sialic acid-bearing glycans. Upon engagement of ligands such as C1q or syalylated glycoproteins, two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) located in CD33 cytoplasmic tail are phosphorylated by Src-like kinases such as LCK. These phosphorylations provide docking sites for the recruitment and acti [...] " 9606.ENSP00000262265,PIH1D1,290,PIH1 domain-containing protein 1; Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles. Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre- rRNA transcription. Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1. Positively regulates the assembly and activity of the mTORC1 complex. 9606.ENSP00000262283,I6L893_HUMAN,689,Uncharacterized protein. 9606.ENSP00000262288,SCPEP1,452,Retinoid-inducible serine carboxypeptidase; May be involved in vascular wall and kidney homeostasis. Belongs to the peptidase S10 family. 9606.ENSP00000262290,LPO,712,Lactoperoxidase; Antimicrobial agent which utilizes hydrogen peroxide and thiocyanate (SCN) to generate the antimicrobial substance hypothiocyanous acid (HOSCN) (By similarity). May contribute to airway host defense against infection. 9606.ENSP00000262291,VMP1,406,"Vacuole membrane protein 1; Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis. Plays a role in the initial stages of the autophagic process through its interaction with BECN1 (By similarity). Involved in cell-cell adhesion. Plays an essential role in formation of cell junctions. Required for autophagosome formation. Belongs to the VMP1 family." 9606.ENSP00000262293,PRR11,360,Proline-rich protein 11; Plays a critical role in cell cycle progression. 9606.ENSP00000262294,TRIM37,964,"E3 ubiquitin-protein ligase TRIM37; E3 ubiquitin-protein ligase required to prevent centriole reduplication. Probably acts by ubiquitinating positive regulators of centriole reduplication. Mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes. Has anti-HIV activity. Belongs to the TRIM/RBCC family." 9606.ENSP00000262300,PKMYT1,499,"Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase; Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on 'Thr-14'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on 'Tyr-15' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development. Belongs to the protein kinase superfamily [...] " 9606.ENSP00000262301,LMF1,567,Lipase maturation factor 1; Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL. 9606.ENSP00000262302,NUBP2,271,"Cytosolic Fe-S cluster assembly factor NUBP2; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Negatively regulates cilium formation and structure." 9606.ENSP00000262304,PKD1,4303,"Polycystin-1; Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B. Both PKD1 and PKD2 are required for channel activity. Involved in renal tubulogenesis. Involved in fluid- flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length resp [...] " 9606.ENSP00000262305,RAB11FIP3,756,"Rab11 family-interacting protein 3; Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. Also required for the structural integrity of the endosomal recycling compartment during interphase. May play a role in breast cancer cell motility by regulating actin cytoskeleton. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non- processiv [...] " 9606.ENSP00000262306,ELOB,161,"Elongin-B; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important featur [...] " 9606.ENSP00000262315,CHTF18,975,"Chromosome transmission fidelity protein 18 homolog; Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP- depen [...] " 9606.ENSP00000262316,RHBDF1,855,"Inactive rhomboid protein 1; Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own." 9606.ENSP00000262319,TELO2,837,"Telomere length regulation protein TEL2 homolog; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, wh [...] " 9606.ENSP00000262320,AXIN1,862,"Axin-1; Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling. Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt- independent JNK signaling pathway. In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B. Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin l [...] " 9606.ENSP00000262340,RPE65,533,"Retinoid isomerohydrolase; Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore. Essential for the production of 11-cis retinal for both rod and cone photoreceptors. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye- specific carotenoid. The soluble form binds vitamin A (all-tr [...] " 9606.ENSP00000262345,IL12RB2,862,Interleukin-12 receptor subunit beta-2; Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing IFN-gamma production. 9606.ENSP00000262352,SLC1A1,524,"Excitatory amino acid transporter 3; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Can also transport L-cysteine. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Plays an important role in L-glutamate and L-aspartate reabsorptio [...] " 9606.ENSP00000262365,FAM86B2,330,Putative protein N-methyltransferase FAM86B2; Family with sequence similarity 86 member B2. 9606.ENSP00000262366,GLIS2,524,"Zinc finger protein GLIS2; Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to- mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressor [...] " 9606.ENSP00000262367,CREBBP,2442,"CREB-binding protein; Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non- histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and it [...] " 9606.ENSP00000262370,MGRN1,576,"E3 ubiquitin-protein ligase MGRN1; E3 ubiquitin-protein ligase. Mediates monoubiquitination at multiple sites of TSG101 in the presence of UBE2D1, but not of UBE2G1, nor UBE2H. Plays a role in the regulation of endosome-to-lysosome trafficking. Impairs MC1R- and MC4R-signaling by competing with GNAS- binding to MCRs and inhibiting agonist-induced cAMP production. Does not inhibit ADRB2-signaling. Does not promote MC1R ubiquitination. Acts also as a negative regulator of hedgehog signaling (By similarity)." 9606.ENSP00000262374,ALG1,464,Chitobiosyldiphosphodolichol beta-mannosyltransferase; Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily. 9606.ENSP00000262375,DNAJA3,480,"DnaJ homolog subfamily A member 3, mitochondrial; Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma-mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway." 9606.ENSP00000262376,UBN1,1134,"Ubinuclein-1; Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for replication- independent chromatin assembly." 9606.ENSP00000262384,N4BP1,896,"NEDD4-binding protein 1; Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH, leading to compete with ITCH's substrates and impairing ubiquitination of substrates (By similarity); Belongs to the N4BP1 family." 9606.ENSP00000262394,WSB1,421,WD repeat and SOCS box-containing protein 1; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation. 9606.ENSP00000262395,TRAF4,470,"TNF receptor-associated factor 4; Adapter protein and signal transducer that links members of the tumor necrosis factor receptor (TNFR) family to different signaling pathways. Plays a role in the activation of NF-kappa-B and JNK, and in the regulation of cell survival and apoptosis. Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract (By similarity). Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions." 9606.ENSP00000262406,RGS9,674,Regulator of G-protein signaling 9; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity). 9606.ENSP00000262407,ITGA2B,1039,"Integrin alpha-IIb light chain, form 1; Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface." 9606.ENSP00000262415,DHX8,1220,ATP-dependent RNA helicase DHX8; Involved in pre-mRNA splicing as component of the spliceosome. Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. Belongs to the DEAD box helicase family. DEAH subfamily. DDX8/PRP22 sub-subfamily. 9606.ENSP00000262418,SLC4A1,911,"Band 3 anion transport protein; Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride- bicarbonate exch [...] " 9606.ENSP00000262424,CRISPLD2,497,Cysteine-rich secretory protein LCCL domain-containing 2; Promotes matrix assembly; Belongs to the CRISP family. 9606.ENSP00000262426,FOXF1,379,Forkhead box protein F1; Probable transcription activator for a number of lung- specific genes. 9606.ENSP00000262428,COTL1,142,"Coactosin-like protein; Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis." 9606.ENSP00000262430,MLYCD,493,"Malonyl-CoA decarboxylase, mitochondrial; Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in mus [...] " 9606.ENSP00000262432,METTL2B,378,tRNA N(3)-methylcytidine methyltransferase METTL2B; S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Thr)(UGU) and tRNA(Arg)(CCU). Belongs to the methyltransferase superfamily. METL family. 9606.ENSP00000262435,SMURF2,748,"E3 ubiquitin-protein ligase SMURF2; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as [...] " 9606.ENSP00000262441,GLP2R,553,Glucagon-like peptide 2 receptor; This is a receptor for glucagon-like peptide 2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. 9606.ENSP00000262442,DNAH9,4486,"Dynein heavy chain 9, axonemal; Force generating protein required for cilia beating in respiratory epithelia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP." 9606.ENSP00000262450,CHD5,1954,"Chromodomain-helicase-DNA-binding protein 5; Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppr [...] " 9606.ENSP00000262455,ERP44,406,"Endoplasmic reticulum resident protein 44; Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum." 9606.ENSP00000262457,INVS,1065,"Inversin; Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin- proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be st [...] " 9606.ENSP00000262460,GINS1,196,"DNA replication complex GINS protein PSF1; Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. Belongs to the GINS1/PSF1 family." 9606.ENSP00000262461,SLC12A2,1212,Solute carrier family 12 member 2; Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume; Belongs to the SLC12A transporter family. 9606.ENSP00000262462,SLC27A6,619,Long-chain fatty acid transport protein 6; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart. 9606.ENSP00000262482,RNF167,350,"E3 ubiquitin-protein ligase RNF167; May act as an E3 ubiquitin-protein ligase, or as part of the E3 complex, which accepts ubiquitin from specific E2 ubiquitin- conjugating enzymes, such as UBE2E1, and then transfers it to substrates, such as SLC22A18. May play a role in growth regulation involved in G1/S transition." 9606.ENSP00000262483,PITPNM3,974,Membrane-associated phosphatidylinositol transfer protein 3; Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions; Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. 9606.ENSP00000262487,ISM1,464,Isthmin-1; Acts as an angiogenesis inhibitor. Belongs to the isthmin family. 9606.ENSP00000262494,GNAO1,354,Guanine nucleotide-binding protein G(o) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14; Belongs to the G-alpha family. G(i/o/t/z) subfamily. 9606.ENSP00000262498,CFAP20,193,Cilia- and flagella-associated protein 20; Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia. Required for axonemal microtubules polyglutamylation. 9606.ENSP00000262506,CSNK2A2,350,"Casein kinase II subunit alpha; Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoin [...] " 9606.ENSP00000262507,COQ9,318,"Ubiquinone biosynthesis protein COQ9, mitochondrial; Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7; Belongs to the COQ9 family." 9606.ENSP00000262510,NLRC5,1866,Protein NLRC5; Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms; Belongs to the NLRP family. 9606.ENSP00000262518,SRCAP,3230,"Helicase SRCAP; Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch- mediated transcription. Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily." 9606.ENSP00000262519,SETD1A,1707,"Histone-lysine N-methyltransferase SETD1A; Histone methyltransferase that specifically methylates 'Lys- 4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression." 9606.ENSP00000262525,ZNF629,869,Zinc finger protein 629; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000262545,PCSK2,638,Neuroendocrine convertase 2; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells; Belongs to the peptidase S8 family. Furin subfamily. 9606.ENSP00000262547,DZANK1,752,Double zinc ribbon and ankyrin repeat domains 1. 9606.ENSP00000262554,SPTLC1,473,"Serine palmitoyltransferase 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to [...] " 9606.ENSP00000262577,ZC3H3,948,Zinc finger CCCH domain-containing protein 3; Required for the export of polyadenylated mRNAs from the nucleus. Enhances ACVR1B-induced SMAD-dependent transcription. Binds to single-stranded DNA but not to double-stranded DNA in vitro. Involved in RNA cleavage (By similarity). 9606.ENSP00000262584,RPL8,257,60S ribosomal protein L8; Component of the large ribosomal subunit. 9606.ENSP00000262593,DOK5,306,Docking protein 5; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation. 9606.ENSP00000262613,SLC9A3R1,358,Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of [...] 9606.ENSP00000262622,CHST8,424,"Carbohydrate sulfotransferase 8; Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin; Belongs to the sulfotransferase 2 family." 9606.ENSP00000262623,ATP4A,1035,Potassium-transporting ATPase alpha chain 1; Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach. 9606.ENSP00000262626,HPN,417,"Serine protease hepsin non-catalytic chain; Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL. Plays a role in cell growth and maintenance of cell morphology. Plays a role in the proteolytic processing of ACE2. Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization. Belongs to the peptidase S1 family." 9606.ENSP00000262629,TYROBP,113,TYRO protein tyrosine kinase-binding protein; Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors. TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation. Also has an inhibitory role in some cells. Non-covalently associates with activating receptors of the CD300 family to mediate cell activation ; [...] 9606.ENSP00000262633,RBM42,480,RNA-binding protein 42; Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA. 9606.ENSP00000262640,VAMP7,260,"Vesicle-associated membrane protein 7; Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocy [...] " 9606.ENSP00000262643,CCNE1,410,G1/S-specific cyclin-E1; Essential for the control of the cell cycle at the G1/S (start) transition. 9606.ENSP00000262644,IMPAD1,359,"Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase; Exhibits 3'-nucleotidase activity toward adenosine 3',5'- bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substrates including I(1)P, I(1,4)P2, [...] " 9606.ENSP00000262646,RAB2A,212,Ras-related protein Rab-2A; Required for protein transport from the endoplasmic reticulum to the Golgi complex. 9606.ENSP00000262648,ANOS1,680,"Anosmin-1; Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells." 9606.ENSP00000262653,CBFA2T2,604,Protein CBFA2T2; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency. Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization- dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner. May function as a complex with the chimeric protein RUNX1/AML1 [...] 9606.ENSP00000262659,CCM2L,433,Cerebral cavernous malformations 2 protein-like; CCM2 like scaffold protein. 9606.ENSP00000262662,CDKN2C,168,"Cyclin-dependent kinase 4 inhibitor C; Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family." 9606.ENSP00000262710,ACIN1,1341,Apoptotic chromatin condensation inducer in the nucleus; Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate [...] 9606.ENSP00000262713,AJUBA,538,"LIM domain-containing protein ajuba; Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell-cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an importa [...] " 9606.ENSP00000262715,TEP1,2627,"Telomerase protein component 1; Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi- subunit structure involved in nucleo-cytoplasmic transport (By similarity). Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC (By similarity)." 9606.ENSP00000262717,CDH20,801,Cadherin-20; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000262719,PHLPP1,1717,"PH domain leucine-rich repeat-containing protein phosphatase 1; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660' of PRKCB and 'Ser-657' of PRKCA. Isoform 2 seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors [...] " 9606.ENSP00000262726,EFCAB6,1501,"EF-hand calcium-binding domain-containing protein 6; Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex." 9606.ENSP00000262738,CELSR1,3014,Cadherin EGF LAG seven-pass G-type receptor 1; Receptor that may have an important role in cell/cell signaling during nervous system formation. 9606.ENSP00000262741,PIK3R3,461,"Phosphatidylinositol 3-kinase regulatory subunit gamma; Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1." 9606.ENSP00000262746,PRDX1,199,"Peroxiredoxin-1; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By s [...] " 9606.ENSP00000262752,RPS6KA6,745,Ribosomal protein S6 kinase alpha-6; Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during embryogenesis. 9606.ENSP00000262764,PGS1,556,"CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial; Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin; Belongs to the CDP-alcohol phosphatidyltransferase class-II family." 9606.ENSP00000262765,QRICH2,1663,Glutamine-rich protein 2; Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility. 9606.ENSP00000262768,TIMP2,220,"Metalloproteinase inhibitor 2; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19. Belongs to the protease inhibitor I35 (TIMP) family." 9606.ENSP00000262776,LGALS3BP,585,Galectin-3-binding protein; Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells. 9606.ENSP00000262794,MOV10L1,1211,"RNA helicase Mov10l1; ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are [...] " 9606.ENSP00000262809,ELL,621,"RNA polymerase II elongation factor ELL; Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription. ELL also plays an [...] " 9606.ENSP00000262811,MAST3,1309,Microtubule associated serine/threonine kinase 3. 9606.ENSP00000262815,MAU2,613,MAU2 chromatid cohesion factor homolog; Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin. Plays a role in sister chromatid cohesion and normal progression through prometaphase. 9606.ENSP00000262839,TRPC5,973,Short transient receptor potential channel 5; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G- protein coupled receptors. Has also been shown to be calcium-selective (By similarity). May also be activated by intracellular calcium store depletion. 9606.ENSP00000262843,MID2,735,Probable E3 ubiquitin-protein ligase MID2; May play a role in microtubule stabilization. Belongs to the TRIM/RBCC family. 9606.ENSP00000262844,AMMECR1,333,AMMECR nuclear protein 1. 9606.ENSP00000262848,PRKX,358,"cAMP-dependent protein kinase catalytic subunit PRKX; Serine/threonine protein kinase regulated by and mediating cAMP signaling in cells. Acts through phosphorylation of downstream targets that may include CREB, SMAD6 and PKD1 and has multiple functions in cellular differentiation and epithelial morphogenesis. Regulates myeloid cell differentiation through SMAD6 phosphorylation. Involved in nephrogenesis by stimulating renal epithelial cell migration and tubulogenesis. Also involved in angiogenesis through stimulation of endothelial cell proliferation, migration and vascular- like stru [...] " 9606.ENSP00000262850,RRAGB,374,Ras-related GTP-binding protein B; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. Belongs to the GTR/RAG GTP-binding protein family. 9606.ENSP00000262865,BPI,487,"Bactericidal permeability-increasing protein; The cytotoxic action of BPI is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family." 9606.ENSP00000262866,SLA2,261,"Src-like-adapter 2; Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins." 9606.ENSP00000262879,RALGAPB,1494,Ral GTPase-activating protein subunit beta; Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB. 9606.ENSP00000262887,XRCC1,633,"DNA repair protein XRCC1; Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP- ribosyltransferase PARP1 activity." 9606.ENSP00000262891,MARK4,752,"MAP/microtubule affinity-regulating kinase 4; Serine/threonine-protein kinase. Phosphorylates the microtubule-associated protein MAPT/TAU. Also phosphorylates the microtubule-associated proteins MAP2 and MAP4. Involved in regulation of the microtubule network, causing reorganization of microtubules into bundles. Required for the initiation of axoneme extension during cilium assembly. Regulates the centrosomal location of ODF2 and phosphorylates ODF2 in vitro. Plays a role in cell cycle progression, specifically in the G1/S checkpoint. Reduces neuronal cell survival. Plays a role in ene [...] " 9606.ENSP00000262894,ZNF225,706,Zinc finger protein 225; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000262903,HACE1,909,"E3 ubiquitin-protein ligase HACE1; E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defen [...] " 9606.ENSP00000262904,E2F3,465,"Transcription factor E2F3; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F3 binds specifically to RB1 in a cell-cycle dependent manner. Inhibits adipogenesis, probably through the repression of CEBPA binding to its target gene promoters (By similarity)." 9606.ENSP00000262916,KCNQ4,695,"Potassium voltage-gated channel subfamily KQT member 4; Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors." 9606.ENSP00000262919,ATRN,1429,Attractin; Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines. May play a role in melanocortin signaling pathways that regulate energy homeostasis and hair color. Low-affinity receptor for agouti (By similarity). Has a critical role in normal myelination in the central nervous system (By similarity). 9606.ENSP00000262932,CNPY4,248,Protein canopy homolog 4; Plays a role in the regulation of the cell surface expression of TLR4. 9606.ENSP00000262940,RASA4,803,"Ras GTPase-activating protein 4; Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis." 9606.ENSP00000262942,ARPC1A,370,Actin-related protein 2/3 complex subunit 1A; Probably functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the WD repeat ARPC1 family. 9606.ENSP00000262947,MYDGF,173,"Myeloid-derived growth factor; Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway (By similarity). Involved in endothelial cell proliferation and angiogenesis." 9606.ENSP00000262948,MAP2K2,400,Dual specificity mitogen-activated protein kinase kinase 2; Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation. 9606.ENSP00000262958,GNA15,374,Guanine nucleotide-binding protein subunit alpha-15; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. 9606.ENSP00000262960,DPP9,892,Dipeptidyl peptidase 9; Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2. 9606.ENSP00000262961,ZFR2,939,Zinc finger RNA binding protein 2. 9606.ENSP00000262962,YJU2,323,"Splicing factor YJU2; Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA. Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'- intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex ; Belongs to the CWC16 family. YJU2 subfamily." 9606.ENSP00000262965,TCF3,654,"Transcription factor E2-alpha; Transcriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B- cell differentiation. Dimers bind DNA on E-box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region." 9606.ENSP00000262971,PIAS4,510,"E3 SUMO-protein ligase PIAS4; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway. Involved in gene silencing. Mediates sumoylation of CEBPA, PARK7, HERC2, MYB, TCF4 and RNF168. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylati [...] " 9606.ENSP00000262982,CSE1L,971,"Exportin-2; Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause releas [...] " 9606.ENSP00000262990,ZNF330,320,Zinc finger protein 330. 9606.ENSP00000262995,GAB1,724,GRB2-associated-binding protein 1; Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway. Belongs to the GAB family. 9606.ENSP00000262999,UCP1,307,"Mitochondrial brown fat uncoupling protein 1; Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane. However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in [...] " 9606.ENSP00000263025,MAPK3,379,"Mitogen-activated protein kinase 3; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] " 9606.ENSP00000263026,EEF2K,725,"Eukaryotic elongation factor 2 kinase; Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate of protein synthesis is reduced." 9606.ENSP00000263035,DHTKD1,919,"Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial; The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity)." 9606.ENSP00000263038,PHYH,338,"Phytanoyl-CoA dioxygenase, peroxisomal; Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA." 9606.ENSP00000263054,SORCS1,1168,Sortilin related VPS10 domain containing receptor 1; Belongs to the VPS10-related sortilin family. SORCS subfamily. 9606.ENSP00000263056,MAP3K8,467,"Mitogen-activated protein kinase kinase kinase 8; Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF-alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up- [...] " 9606.ENSP00000263062,EPC1,836,"Enhancer of polycomb homolog 1; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replica [...] " 9606.ENSP00000263063,MTPAP,582,"Poly(A) RNA polymerase, mitochondrial; Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA." 9606.ENSP00000263071,SCARF1,830,"Scavenger receptor class F member 1; Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity)." 9606.ENSP00000263073,SMG6,1419,"Telomerase-binding protein EST1A; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER)." 9606.ENSP00000263080,ASPA,313,Aspartoacylase; Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids. 9606.ENSP00000263083,DPH1,443,"2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity)." 9606.ENSP00000263087,ITGAE,1179,Integrin alpha-E heavy chain; Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers. 9606.ENSP00000263088,PLD2,933,Phospholipase D2; May have a role in signal-induced cytoskeletal regulation and/or endocytosis. 9606.ENSP00000263092,METTL16,562,"RNA N6-adenosine-methyltransferase METTL16; RNA N6-methyltransferase that methylates adenosine residues at the N(6) position of a subset of RNAs and is involved in S-adenosyl- L-methionine homeostasis by regulating expression of MAT2A transcripts. Able to N6- methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5'UACAGAGAA-3' nonamer sequence and a specific RNA structure. Plays a key role in S-adenosyl-L-methionine homeostasis by mediating N6-methylation of MAT2 [...] " 9606.ENSP00000263093,SLC27A5,690,"Bile acyl-CoA synthetase; Acyl-CoA synthetase that catalyzes the activation of bile acids via formation of bile acid CoA thioesters which is necessary for their subsequent conjugation with glycine or taurine. Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) are the principal substrates. Also exhibits acyl CoA synthetase activity that activates very long-chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl-CoA. In vitro, also activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate ( [...] " 9606.ENSP00000263094,ABCA7,2146,Phospholipid-transporting ATPase ABCA7; Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylserine over phosphatidylcholine. Plays a role in lipid homeostasis and macrophage- mediated phagocytosis. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocyte differentiation. Involved in lipid raft organization and CD1D [...] 9606.ENSP00000263095,ZNF264,627,Zinc finger protein 264; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000263100,A1BG,495,Alpha-1B-glycoprotein; alpha-1-B glycoprotein. 9606.ENSP00000263102,CCDC6,474,Coiled-coil domain containing 6. 9606.ENSP00000263116,RAB36,333,Ras-related protein Rab-36; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000263125,PRKCQ,706,"Protein kinase C theta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, including T-cells activation, proliferation, differentiation and survival, by mediating activation of multiple transcription factors such as NF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulated T-cells, is required for the activation of NF-kappa-B and JUN, which in turn are essential for IL2 production, and participates in the calcium-dependent NFATC1 and NFATC2 transact [...] " 9606.ENSP00000263150,WDR37,494,WD repeat domain 37. 9606.ENSP00000263160,SLC17A6,582,Vesicular glutamate transporter 2; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. 9606.ENSP00000263168,CAPZA1,286,"F-actin-capping protein subunit alpha-1; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions." 9606.ENSP00000263174,PALMD,551,Palmdelphin. 9606.ENSP00000263177,PLPPR5,321,Phospholipid phosphatase-related protein type 5; Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction; Belongs to the PA-phosphatase related phosphoesterase family. 9606.ENSP00000263181,KIF18A,898,"Kinesin-like protein KIF18A; Microtubule-depolymerizing kinesin which plays a role in chromosome congression by reducing the amplitude of preanaphase oscillations and slowing poleward movement during anaphase, thus suppressing chromosome movements. May stabilize the CENPE-BUB1B complex at the kinetochores during early mitosis and maintains CENPE levels at kinetochores during chromosome congression." 9606.ENSP00000263182,BBOX1,387,Gamma-butyrobetaine dioxygenase; Catalyzes the formation of L-carnitine from gamma- butyrobetaine; Belongs to the gamma-BBH/TMLD family. 9606.ENSP00000263187,MSH4,936,MutS protein homolog 4; Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis; Belongs to the DNA mismatch repair MutS family. 9606.ENSP00000263196,DGCR2,550,"Integral membrane protein DGCR2/IDD; Putative adhesion receptor, that could be involved in cell- cell or cell-matrix interactions required for normal cell differentiation and migration." 9606.ENSP00000263202,UFD1,307,"Ubiquitin recognition factor in ER-associated degradation protein 1; Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1- VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-deriv [...] " 9606.ENSP00000263205,MED15,788,"Mediator of RNA polymerase II transcription subunit 15; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for cholesterol [...] " 9606.ENSP00000263207,ARVCF,962,Armadillo repeat protein deleted in velo-cardio-facial syndrome; Involved in protein-protein interactions at adherens junctions; Belongs to the beta-catenin family. 9606.ENSP00000263208,HIRA,1017,Protein HIRA; Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. 9606.ENSP00000263209,DGCR8,773,"Microprocessor complex subunit DGCR8; Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that [...] " 9606.ENSP00000263212,PPM1F,454,"Protein phosphatase 1F; Dephosphorylates and concomitantly deactivates CaM-kinase II activated upon autophosphorylation, and CaM-kinases IV and I activated upon phosphorylation by CaM-kinase kinase. Promotes apoptosis." 9606.ENSP00000263228,UBE2R2,238,Ubiquitin-conjugating enzyme E2 R2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes monoubiquitination and 'Lys-48'-linked polyubiquitination. May be involved in degradation of katenin. 9606.ENSP00000263233,SYP,313,Synaptophysin; Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity); Belongs to the synaptophysin/synaptobrevin family. 9606.ENSP00000263238,ACTR3,418,"Actin-related protein 3; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the pointed end of the daughter actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promote [...] " 9606.ENSP00000263239,DDX18,670,ATP-dependent RNA helicase DDX18; Probable RNA-dependent helicase; Belongs to the DEAD box helicase family. DDX18/HAS1 subfamily. 9606.ENSP00000263245,ARFGAP3,516,ADP-ribosylation factor GTPase-activating protein 3; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. 9606.ENSP00000263246,PACSIN2,486,"Protein kinase C and casein kinase substrate in neurons protein 2; Regulates the morphogenesis and endocytosis of caveolae (By similarity). Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus. Belongs to the PACSIN family." 9606.ENSP00000263253,EP300,2414,"Histone acetyltransferase p300; Functions as histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K [...] " 9606.ENSP00000263256,DESI1,168,"Desumoylating isopeptidase 1; Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity (By similarity). Desumoylates ZBTB46 (By similarity). Collaborates with UBQLN4 in the export of ubiquitinated proteins from the nucleus to the cytoplasm ; Belongs to the DeSI family." 9606.ENSP00000263257,NOVA2,492,RNA-binding protein Nova-2; May regulate RNA splicing or metabolism in a specific subset of developing neurons (By similarity). Binds single strand RNA. 9606.ENSP00000263265,PLEKHA4,779,"Pleckstrin homology domain-containing family A member 4; Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides." 9606.ENSP00000263266,FAM83E,478,Protein FAM83E; May play a role in MAPK signaling. Belongs to the FAM83 family. 9606.ENSP00000263268,MREG,214,"Melanoregulin; Probably functions as cargo-recognition protein that couples cytoplasmic vesicles to the transport machinery. Plays a role in hair pigmentation, a process that involves shedding of melanosome-containing vesicles from melanocytes, followed by phagocytosis of the melanosome- containing vesicles by keratinocytes. Functions on melanosomes as receptor for RILP and the complex formed by RILP and DCTN1, and thereby contributes to retrograde melanosome transport from the cell periphery to the center. Overexpression causes accumulation of late endosomes and/or lysosomes at the mi [...] " 9606.ENSP00000263269,GRIN2D,1336,"Glutamate receptor ionotropic, NMDA 2D; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition. Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2D/GRIN2D subfamily." 9606.ENSP00000263274,LIG1,919,"DNA ligase 1; DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair; Belongs to the ATP-dependent DNA ligase family." 9606.ENSP00000263277,EHD2,543,EH domain-containing protein 2; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes. Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane. 9606.ENSP00000263278,HSD17B14,270,"17-beta-hydroxysteroid dehydrogenase 14; Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3-beta,17-beta-diol (in vitro)." 9606.ENSP00000263285,LY9,655,"T-lymphocyte surface antigen Ly-9; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. May participate in adhesion reactions between T lymphocytes and accessory cells by homophil [...] " 9606.ENSP00000263314,P2RX3,397,P2X purinoceptor 3; Receptor for ATP that acts as a ligand-gated cation channel. Plays a role in sensory perception. Required for normal perception of pain. Required for normal taste perception (By similarity). 9606.ENSP00000263317,NOX4,578,"NADPH oxidase 4; Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Isoform 3 is not functional. Isoform 5 and is [...] " 9606.ENSP00000263321,TYR,529,"Tyrosinase; This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone. Belongs to the tyrosinase family." 9606.ENSP00000263326,IL37,218,"Interleukin-37; Suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation. This function requires SMAD3. Suppresses, or reduces, proinflammatory cytokine production, including IL1A and IL6, as well as CCL12, CSF1, CSF2, CXCL13, IL1B, IL23A and IL1RN, but spares anti-inflammatory cytokines. Inhibits dendritic cell activation; Belongs to the IL-1 family." 9606.ENSP00000263334,PAX8,450,"Paired box protein Pax-8; Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells." 9606.ENSP00000263339,IL1A,271,"Interleukin-1 alpha; Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells." 9606.ENSP00000263341,IL1B,269,"Interleukin-1 beta; Potent proinflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B- cell activation and antibody production, and fibroblast proliferation and collagen production. Promotes Th17 differentiation of T-cells. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T- helper 1 (Th1) cells." 9606.ENSP00000263346,TCF25,676,Transcription factor 25; May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development. Belongs to the TCF25 family. 9606.ENSP00000263354,NAPA,295,Alpha-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (Probable). Together with GNA12 promotes CDH5 localization to plasma membrane. Belongs to the SNAP family. 9606.ENSP00000263368,BLVRB,206,"Flavin reductase (NADPH); Broad specificity oxidoreductase that catalyzes the NADPH- dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin." 9606.ENSP00000263370,ITPKC,683,"Inositol-trisphosphate 3-kinase C; Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate; Belongs to the inositol phosphokinase (IPK) family." 9606.ENSP00000263372,KCNK6,313,Potassium channel subfamily K member 6; Exhibits outward rectification in a physiological K(+) gradient and mild inward rectification in symmetrical K(+) conditions; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. 9606.ENSP00000263377,BRD4,1362,"Bromodomain-containing protein 4; Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structure. During interphase, plays a key role in regulating the transcription of signal- inducible genes by associating with the P-TEFb complex and re [...] " 9606.ENSP00000263379,IL27RA,636,Interleukin-27 receptor subunit alpha; Receptor for IL27. Requires IL6ST/gp130 to mediate signal transduction in response to IL27. This signaling system acts through STAT3 and STAT1. Involved in the regulation of Th1-type immune responses. Also appears to be involved in innate defense mechanisms. 9606.ENSP00000263382,ASF1B,202,Histone chaperone ASF1B; Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly. Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA. Required for spermatogenesis. Belongs to the ASF1 family. 9606.ENSP00000263383,ILVBL,632,Acetolactate synthase-like protein; ilvB acetolactate synthase like. 9606.ENSP00000263384,FAM32A,112,"Protein FAM32A; Isoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli." 9606.ENSP00000263388,NOTCH3,2321,"Neurogenic locus notch homolog protein 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)." 9606.ENSP00000263390,MED26,600,"Mediator of RNA polymerase II transcription subunit 26; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000263401,COMMD9,198,COMM domain-containing protein 9; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF- kappa-B. Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride- sensitive sodium channel (ENaC) subunits. 9606.ENSP00000263408,C9,559,Complement component C9a; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC. 9606.ENSP00000263413,C6,934,Complement component C6; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. 9606.ENSP00000263431,PRKCG,697,"Protein kinase C gamma type; Calcium-activated, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing p [...] " 9606.ENSP00000263433,PPP1R12C,782,Protein phosphatase 1 regulatory subunit 12C; Regulates myosin phosphatase activity. 9606.ENSP00000263440,ALG6,507,"Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol." 9606.ENSP00000263461,WDR11,1224,"WD repeat-containing protein 11; Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis. Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production. WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)- derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1." 9606.ENSP00000263464,BIRC3,604,"Baculoviral IAP repeat-containing protein 3; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non- canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins [...] " 9606.ENSP00000263468,CEP126,1117,Centrosomal protein of 126 kDa; Participates in cytokinesis. Necessary for microtubules and mitotic spindle organization. Involved in primary cilium formation. 9606.ENSP00000263512,SLC10A3,477,P3 protein; The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions. 9606.ENSP00000263519,ATP2B3,1220,Plasma membrane calcium-transporting ATPase 3; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. 9606.ENSP00000263549,PARP12,701,Protein mono-ADP-ribosyltransferase PARP12; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins. 9606.ENSP00000263556,P4HA1,534,Prolyl 4-hydroxylase subunit alpha-1; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family. 9606.ENSP00000263559,VPS26A,327,Vacuolar protein sorting-associated protein 26A; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans- Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for car [...] 9606.ENSP00000263563,PALD1,856,Paladin; Phosphatase domain containing paladin 1. 9606.ENSP00000263576,DDX25,483,ATP-dependent RNA helicase DDX25; ATP-dependent RNA helicase. Required for mRNA export and translation regulation during spermatid development (By similarity). 9606.ENSP00000263578,FOXRED1,486,FAD-dependent oxidoreductase domain-containing protein 1; Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). Involved in mid-late stages of complex I assembly. 9606.ENSP00000263579,DCPS,337,"m7GpppX diphosphatase; Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5'-phosphorylated RNA fragments and 7- methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not h [...] " 9606.ENSP00000263593,SIAE,523,"Sialate O-acetylesterase; Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid." 9606.ENSP00000263598,LCN1,176,"Lipocalin-1; Could play a role in taste reception. Could be necessary for the concentration and delivery of sapid molecules in the gustatory system. Can bind various ligands, with chemical structures ranging from lipids and retinoids to the macrocyclic antibiotic rifampicin and even to microbial siderophores. Exhibits an extremely wide ligand pocket; Belongs to the calycin superfamily. Lipocalin family." 9606.ENSP00000263610,BARHL1,327,BarH like homeobox 1. 9606.ENSP00000263620,ARID3A,593,AT-rich interactive domain-containing protein 3A; Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation. 9606.ENSP00000263629,MTIF2,727,"Translation initiation factor IF-2, mitochondrial; One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. IF-2 subfamily." 9606.ENSP00000263635,TANC1,1861,Protein TANC1; May be a scaffold component in the postsynaptic density. 9606.ENSP00000263636,LY75,1722,Lymphocyte antigen 75; Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment (By similarity). Causes reduced proliferation of B- lymphocytes. 9606.ENSP00000263645,CD81,236,"CD81 antigen; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells. Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production. In T cells, facilitates the localization of CD247/ [...] " 9606.ENSP00000263650,OSBPL5,879,"Oxysterol-binding protein-related protein 5; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner. May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes. Binds 25-hydroxycholesterol and cholesterol." 9606.ENSP00000263655,CNRIP1,164,CB1 cannabinoid receptor-interacting protein 1; [Isoform 1]: Suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels. Belongs to the CNRIP family. 9606.ENSP00000263657,PNO1,252,RNA-binding protein PNO1; Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA. 9606.ENSP00000263663,TAF1B,588,"TATA box-binding protein-associated factor RNA polymerase I subunit B; Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3. Belongs to the RRN7/TAF1B family." 9606.ENSP00000263665,CNTN3,1028,Contactin-3; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity); Belongs to the immunoglobulin superfamily. Contactin family. 9606.ENSP00000263666,PDZRN3,1066,"E3 ubiquitin-protein ligase PDZRN3; E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation." 9606.ENSP00000263671,CHRDL2,451,"Chordin-like protein 2; May inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By similarity). Implicated in tumor angiogenesis. May play a role during myoblast and osteoblast differentiation, and maturation." 9606.ENSP00000263672,SPCS2,226,Signal peptidase complex subunit 2; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. 9606.ENSP00000263674,ARHGEF17,2063,Rho guanine nucleotide exchange factor 17; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. 9606.ENSP00000263681,POLD3,466,"DNA polymerase delta subunit 3; Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA. Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences [...] " 9606.ENSP00000263686,SELP,830,P-selectin; Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with SELPLG; Belongs to the selectin/LECAM family. 9606.ENSP00000263694,SNRNP40,357,"U5 small nuclear ribonucleoprotein 40 kDa protein; Required for pre-mRNA splicing as component of the activated spliceosome. Component of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, building blocks of the spliceosome." 9606.ENSP00000263697,DNAJC8,253,DnaJ homolog subfamily C member 8; Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells. 9606.ENSP00000263702,MECR,373,"Enoyl-[acyl-carrier-protein] reductase, mitochondrial; Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16)." 9606.ENSP00000263707,TFCP2L1,479,"Transcription factor CP2-like protein 1; Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid- base and salt-water homeostasis, respectively (By similari [...] " 9606.ENSP00000263708,PTPN4,926,"Tyrosine-protein phosphatase non-receptor type 4; Phosphatase that plays a role in immunity, learning, synaptic plasticity or cell homeostasis. Regulates neuronal cell homeostasis by protecting neurons against apoptosis. Negatively regulates TLR4-induced interferon beta production by dephosphorylating adapter TICAM2 and inhibiting subsequent TRAM-TRIF interaction. Dephosphorylates also the immunoreceptor tyrosine-based activation motifs/ITAMs of the TCR zeta subunit and thereby negatively regulates TCR-mediated signaling pathway (By similarity). May act at junctions between the membran [...] " 9606.ENSP00000263710,CLASP1,1538,CLIP-associating protein 1; Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at le [...] 9606.ENSP00000263713,EPB41L5,733,Band 4.1-like protein 5; May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells. 9606.ENSP00000263726,LHX4,390,LIM/homeobox protein Lhx4; May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA. 9606.ENSP00000263733,FAM20B,409,"Glycosaminoglycan xylosylkinase; Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O- phosphorylation may influence the catalyti [...] " 9606.ENSP00000263734,EPAS1,870,Endothelial PAS domain-containing protein 1; Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase e [...] 9606.ENSP00000263735,EPCAM,314,"Epithelial cell adhesion molecule; May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E." 9606.ENSP00000263736,SRBD1,995,S1 RNA-binding domain-containing protein 1; S1 RNA binding domain 1. 9606.ENSP00000263753,SGO1,561,"Shugoshin 1; Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congressi [...] " 9606.ENSP00000263754,KAT2B,832,"Histone acetyltransferase KAT2B; Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Also acetylates non- histone proteins, such as ACLY, PLK4, RRP9/U3-55K and TBX5. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 h [...] " 9606.ENSP00000263773,FNBP4,1017,Formin binding protein 4. 9606.ENSP00000263774,NDUFS3,264,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)." 9606.ENSP00000263776,ACCS,501,1-aminocyclopropane-1-carboxylate synthase-like protein 1; Does not catalyze the synthesis of 1-aminocyclopropane-1- carboxylate but is capable of catalyzing the deamination of L- vinylglycine. 9606.ENSP00000263780,CHMP2B,213,"Charged multivesicular body protein 2b; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] " 9606.ENSP00000263791,EIF2AK4,1649,"eIF-2-alpha kinase GCN2; Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2- alpha/EIF2S1) on 'Ser-52' in response to low amino acid availability. Plays a role as an activator of the integrated stress response (ISR) required for adapatation to amino acid starvation. Converts phosphorylated eIF-2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a transla [...] " 9606.ENSP00000263795,WDR76,626,"WD repeat-containing protein 76; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC; Belongs to the WD repeat DDB2/WDR76 family." 9606.ENSP00000263798,TYRO3,890,"Tyrosine-protein kinase receptor TYRO3; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including TULP1 or GAS6. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of TYRO3 on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with PIK3R1 and thereby enhances PI3-kinase activity. Activates the AKT survival [...] " 9606.ENSP00000263800,LTK,864,"Leukocyte tyrosine kinase receptor; Receptor with a tyrosine-protein kinase activity. The exact function of this protein is not known. Studies with chimeric proteins (replacing its extracellular region with that of several known growth factor receptors, such as EGFR and CSFIR) demonstrate its ability to promote growth and specifically neurite outgrowth, and cell survival. Signaling appears to involve the PI3 kinase pathway. Involved in regulation of the secretory pathway involving endoplasmic reticulum (ER) export sites (ERESs) and ER to Golgi transport." 9606.ENSP00000263805,ZNF106,1883,"Zinc finger protein 106; RNA-binding protein. Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism." 9606.ENSP00000263847,OSBP,807,"Oxysterol-binding protein 1; Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol. Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25- hydroxycholesterol [...] " 9606.ENSP00000263849,ZC2HC1A,325,Zinc finger C2HC-type containing 1A. 9606.ENSP00000263851,IL7,177,Interleukin-7; Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation. 9606.ENSP00000263856,CHMP3,222,"Charged multivesicular body protein 3; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function [...] " 9606.ENSP00000263857,POLR1A,1720,DNA-directed RNA polymerase I subunit RPA1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation o [...] 9606.ENSP00000263864,VAMP8,100,"Vesicle-associated membrane protein 8; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t- SNARE complex. Also required for dense-granule secretion in platelets. Plays als [...] " 9606.ENSP00000263867,CAPG,348,Macrophage-capping protein; Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA. 9606.ENSP00000263881,MAP4K3,894,Mitogen-activated protein kinase kinase kinase kinase 3; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. 9606.ENSP00000263897,USE1,259,Vesicle transport protein USE1; SNARE that may be involved in targeting and fusion of Golgi- derived retrograde transport vesicles with the ER. 9606.ENSP00000263904,STAM2,525,"Signal transducing adapter molecule 2; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking process [...] " 9606.ENSP00000263915,GRB14,540,"Growth factor receptor-bound protein 14; Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal." 9606.ENSP00000263918,STRN,780,Striatin; Calmodulin-binding protein which may function as scaffolding or signaling protein and may play a role in dendritic Ca(2+) signaling; Belongs to the WD repeat striatin family. 9606.ENSP00000263921,CHIC2,165,Cysteine-rich hydrophobic domain-containing protein 2; Cysteine rich hydrophobic domain 2; Belongs to the CHIC family. 9606.ENSP00000263923,KDR,1356,"Vascular endothelial growth factor receptor 2; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative reg [...] " 9606.ENSP00000263925,LNX1,728,"E3 ubiquitin-protein ligase LNX; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65." 9606.ENSP00000263932,TNFRSF8,595,Tumor necrosis factor receptor superfamily member 8; Receptor for TNFSF8/CD30L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa- B ; Belongs to the TNFR8 family. 9606.ENSP00000263934,KIF1B,1770,Kinesin-like protein KIF1B; Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. 9606.ENSP00000263946,PKP1,747,Plakophilin-1; Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. 9606.ENSP00000263955,STK17B,372,Serine/threonine-protein kinase 17B; Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis. 9606.ENSP00000263956,GTF3C3,886,"General transcription factor 3C polypeptide 3; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters." 9606.ENSP00000263960,COQ10B,238,"Coenzyme Q-binding protein COQ10 homolog B, mitochondrial; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity); Belongs to the COQ10 family." 9606.ENSP00000263966,USP13,863,"Ubiquitin carboxyl-terminal hydrolase 13; Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy and endoplasmic reticulum-associated degradation (ERAD). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34- containing complexes. Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34-containing complexes regulate USP13 st [...] " 9606.ENSP00000263967,PIK3CA,1068,"Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to v [...] " 9606.ENSP00000263974,TAF12,161,"Transcription initiation factor TFIID subunit 12; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription; Belongs to the TAF12 family." 9606.ENSP00000263980,SLC9A1,815,Sodium/hydrogen exchanger 1; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. 9606.ENSP00000263985,GATB,557,"Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the GatB/GatE family. GatB subfamily." 9606.ENSP00000263991,EHBP1,1231,EH domain-binding protein 1; May play a role in actin reorganization. Links clathrin- mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking. Required for perinuclear sorting and insulin- regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity). 9606.ENSP00000263997,SLC7A6OS,309,Probable RNA polymerase II nuclear localization protein SLC7A6OS; Directs RNA polymerase II nuclear import. 9606.ENSP00000264001,CKLF,152,Chemokine-like factor; May play an important role in inflammation and regeneration of skeletal muscle. Partly inhibited by interleukin 10. 9606.ENSP00000264005,LCAT,440,"Phosphatidylcholine-sterol acyltransferase; Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-c [...] " 9606.ENSP00000264012,CDH3,829,Cadherin-3; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000264020,IFT46,355,"Intraflagellar transport protein 46 homolog; Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity). Belongs to the IFT46 family." 9606.ENSP00000264025,NECTIN1,517,Nectin-1; Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity; Belongs to the nectin family. 9606.ENSP00000264027,SC5D,299,Lathosterol oxidase; Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol; Belongs to the sterol desaturase family. 9606.ENSP00000264028,ARCN1,511,"Coatomer subunit delta; Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP- binding proteins; the [...] " 9606.ENSP00000264029,TREH,583,Trehalase; Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose. 9606.ENSP00000264031,UPK2,184,Uroplakin-2; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By similarity). 9606.ENSP00000264033,CBL,906,"E3 ubiquitin-protein ligase CBL; Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family [...] " 9606.ENSP00000264036,MCAM,646,"Cell surface glycoprotein MUC18; Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration." 9606.ENSP00000264039,GPC1,558,"Secreted glypican-1; Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting th [...] " 9606.ENSP00000264042,FARP2,1054,"FERM, ARHGEF and pleckstrin domain-containing protein 2; Functions as guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity)." 9606.ENSP00000264047,SLC5A7,580,High affinity choline transporter 1; Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. 9606.ENSP00000264051,NGEF,710,"Ephexin-1; Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity)." 9606.ENSP00000264057,DGKD,1214,Diacylglycerol kinase delta; May function as signaling molecule. 9606.ENSP00000264059,EFHD1,239,"EF-hand domain-containing protein D1; Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production. May play a role in neuronal differentiation (By similarity)." 9606.ENSP00000264065,DNAJC10,793,"DnaJ homolog subfamily C member 10; Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins. Required for efficient folding of proteins in the endoplasmic reticulum by catalyzing the removal of non-native disulfide bonds formed during the folding of proteins, such as LDLR. Also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. Interaction with HSPA5 is required its activity, not for the disulfide reductase activity, [...] " 9606.ENSP00000264071,TUBB4A,444,"Tubulin beta-4A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000264072,FCER2,321,Low affinity immunoglobulin epsilon Fc receptor membrane-bound form; Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B-cells (it is a B-cell-specific antigen). 9606.ENSP00000264079,MCOLN1,580,"Mucolipin-1; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By simil [...] " 9606.ENSP00000264080,GPR108,543,G protein-coupled receptor 108. 9606.ENSP00000264093,DGUOK,277,"Deoxyguanosine kinase, mitochondrial; Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down- regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents." 9606.ENSP00000264094,LOXL3,753,"Lysyl oxidase homolog 3; Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins. Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin. Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory [...] " 9606.ENSP00000264108,HAT1,419,"Histone acetyltransferase type B catalytic subunit; Acetylates soluble but not nucleosomal histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, acetylates histone H2A at 'Lys-5' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG. May be involved in nucleosome assembly during DNA replication and repair as part of the histone H3.1 and H3.3 complexes. May play a role in DNA repair in response to free radical damage. Belongs to the HAT1 family." 9606.ENSP00000264110,ATF2,505,"Cyclic AMP-dependent transcription factor ATF-2; Transcriptional activator which regulates the transcription of various genes, including those involved in anti-apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5'-TGACGTCA- 3') or to AP-1 (activator protein 1) consensus sequences (5'-TGACTCA- 3'). In the nucleus, contributes to global transcription and the DNA damage response, in addition to specific transcriptional activities that are related to cell development, proliferation and death. In the c [...] " 9606.ENSP00000264144,LAMC2,1193,"Laminin subunit gamma-2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells." 9606.ENSP00000264151,OSGEPL1,414,"Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial; Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance." 9606.ENSP00000264156,MCM6,821,"DNA replication licensing factor MCM6; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] " 9606.ENSP00000264157,CCNT2,730,"Cyclin-T2; Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin T) complex, also called positive transcription elongation factor B (P-TEFB), which is proposed to facilitate the transition from abortive to production elongation by phosphorylating the CTD (carboxy- terminal domain) of the large subunit of RNA polymerase II (RNAP II). The activity of this complex is regulated by binding with 7SK snRNA. Plays a role during muscle differentiation; P-TEFB complex interacts with MYOD1; this tripartite complex promotes the transcriptional activity of MYOD1 through its CDK9-media [...] " 9606.ENSP00000264159,ZRANB3,1079,"DNA annealing helicase and endonuclease ZRANB3; DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events. Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3'-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase. [...] " 9606.ENSP00000264161,DARS1,501,"Aspartate--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA; Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily." 9606.ENSP00000264162,LCT,1927,Lactase-phlorizin hydrolase; LPH splits lactose in the small intestine. 9606.ENSP00000264167,AGPS,658,"Alkyldihydroxyacetonephosphate synthase, peroxisomal; Catalyzes the exchange of the acyl chain in acyl- dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl- dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis; Belongs to the FAD-binding oxidoreductase/transferase type 4 family." 9606.ENSP00000264170,KYNU,465,"Kynureninase; Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3- hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3- hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity. Belongs to the kynureninase family." 9606.ENSP00000264183,ARID4B,1312,"AT-rich interactive domain-containing protein 4B; Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes. Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression [...] " 9606.ENSP00000264187,NID1,1247,Nidogen-1; Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions. 9606.ENSP00000264192,CYTIP,359,"Cytohesin-interacting protein; By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm." 9606.ENSP00000264198,MUL1,352,Mitochondrial ubiquitin ligase activator of NFKB 1; Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the con [...] 9606.ENSP00000264218,NMU,174,"Neuromedin precursor-related peptide 33; [Neuromedin-U-25]: Ligand for receptors NMUR1 and NMUR2 (By similarity). Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder. [Neuromedin precursor-related peptide 36]: Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release from lactotroph cells in the pituitary gland, probably via the hypothalamic dopaminergic system." 9606.ENSP00000264220,PPAT,517,Amidophosphoribosyltransferase; Phosphoribosyl pyrophosphate amidotransferase; In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family. 9606.ENSP00000264228,SRD5A3,318,Polyprenol reductase; Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N- glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5- alpha-dihydrotestosterone (DHT). 9606.ENSP00000264229,CRACD,1233,"Capping protein inhibiting regulator of actin dynamics; Involved in epithelial cell integrity by acting on the maintenance of the actin cytoskeleton. Positively regulates the actin polymerization, by inhibiting the interaction of actin-capping proteins with actin." 9606.ENSP00000264230,NOA1,698,Nitric oxide-associated protein 1; Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP; Belongs to the TRAFAC class YlqF/YawG GTPase family. NOA1 subfamily. 9606.ENSP00000264231,POPDC2,364,"Popeye domain-containing protein 2; Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density; Belongs to the popeye family." 9606.ENSP00000264233,POLQ,2590,"DNA polymerase theta; DNA polymerase that promotes microhomology-mediated end- joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA. MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation. POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends. POLQ-mediated MMEJ may be required to promote [...] " 9606.ENSP00000264234,UPK1B,260,"Uroplakin-1b; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity); Belongs to the tetraspanin (TM4SF) family." 9606.ENSP00000264245,ARHGAP31,1444,"Rho GTPase-activating protein 31; Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration." 9606.ENSP00000264246,CD80,288,"T-lymphocyte activation antigen CD80; Involved in the costimulatory signal essential for T- lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28, binding to CTLA-4 has opposite effects and inhibits T-cell activation." 9606.ENSP00000264249,CHST10,356,"Carbohydrate sulfotransferase 10; Catalyzes the transfer of sulfate to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis." 9606.ENSP00000264254,PDCL3,239,"Phosducin-like protein 3; Acts as a chaperone for the angiogenic VEGF receptor KDR/VEGFR2, increasing its abundance by inhibiting its ubiquitination and degradation. Inhibits the folding activity of the chaperonin-containing T-complex (CCT) which leads to inhibition of cytoskeletal actin folding. Acts as a chaperone during heat shock alongside HSP90 and HSP40/70 chaperone complexes (By similarity). Modulates the activation of caspases during apoptosis." 9606.ENSP00000264255,TXNDC9,226,"Thioredoxin domain-containing protein 9; Significantly diminishes the chaperonin TCP1 complex ATPase activity, thus negatively impacts protein folding, including that of actin or tubulin." 9606.ENSP00000264257,IL1RL2,575,"Interleukin-1 receptor-like 2; Receptor for interleukin-36 (IL36A, IL36B and IL36G). After binding to interleukin-36 associates with the coreceptor IL1RAP to form the interleukin-36 receptor complex which mediates interleukin-36- dependent activation of NF-kappa-B, MAPK and other pathways (By similarity). The IL-36 signaling system is thought to be present in epithelial barriers and to take part in local inflammatory response; it is similar to the IL-1 system. Seems to be involved in skin inflammatory response by induction of the IL-23/IL-17/IL-22 pathway." 9606.ENSP00000264260,IL18RAP,599,"Interleukin-18 receptor accessory protein; Within the IL18 receptor complex, does not mediate IL18- binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation. May play a role in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells (Probable)." 9606.ENSP00000264263,GFM1,770,"Elongation factor G, mitochondrial; Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mito [...] " 9606.ENSP00000264265,LXN,222,"Latexin; Hardly reversible, non-competitive, and potent inhibitor of CPA1, CPA2 and CPA4. May play a role in inflammation. Belongs to the protease inhibitor I47 (latexin) family." 9606.ENSP00000264276,ALS2,1657,Alsin; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). 9606.ENSP00000264279,NOP58,529,"Nucleolar protein 58; Required for 60S ribosomal subunit biogenesis (By similarity). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs. Belongs to the NOP5/NOP56 family." 9606.ENSP00000264313,SLAIN2,581,SLAIN motif-containing protein 2; Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase. 9606.ENSP00000264316,TXK,527,"Tyrosine-protein kinase TXK; Non-receptor tyrosine kinase that plays a redundant role with ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of TXK to the cell membrane, where it is phosphorylated at Tyr-420. Phosphorylation leads to TXK full activation. Contributes also to signaling from many receptors and participates in multiple downstream pathways, inclu [...] " 9606.ENSP00000264318,GABRA4,554,"Gamma-aminobutyric acid receptor subunit alpha-4; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA4 sub- subfamily." 9606.ENSP00000264331,TOP2B,1626,DNA topoisomerase 2-beta; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double- strand breaks; Belongs to the type II topoisomerase family. 9606.ENSP00000264335,YWHAE,255,"14-3-3 protein epsilon; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm." 9606.ENSP00000264344,FAM13A,1023,Protein FAM13A; Family with sequence similarity 13 member A; Belongs to the FAM13 family. 9606.ENSP00000264346,HERC6,1022,Probable E3 ubiquitin-protein ligase HERC6; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. 9606.ENSP00000264350,HERC5,1024,"E3 ISG15--protein ligase HERC5; Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in cells induced by interferon. Functions as part of the ISGylation machinery that recognizes target proteins in a broad and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 fails to form homodimer [...] " 9606.ENSP00000264360,PCDH10,1040,Protocadherin-10; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000264363,NDST4,872,"Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has low deacetylase activity but high sulfotransferase activity (By similarity); Belongs to the sulfotransferase 1 family. NDST subfamily." 9606.ENSP00000264376,CRYGD,174,Gamma-crystallin D; Crystallins are the dominant structural components of the vertebrate eye lens. 9606.ENSP00000264377,ADAM23,832,Disintegrin and metalloproteinase domain-containing protein 23; May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein. 9606.ENSP00000264380,PIKFYVE,2098,"1-phosphatidylinositol 3-phosphate 5-kinase; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes." 9606.ENSP00000264381,BCHE,602,Cholinesterase; Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters; Belongs to the type-B carboxylesterase/lipase family. 9606.ENSP00000264382,SI,1827,"Sucrase-isomaltase, intestinal; Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides; Belongs to the glycosyl hydrolase 31 family." 9606.ENSP00000264399,PRKG2,762,cGMP-dependent protein kinase 2; Crucial regulator of intestinal secretion and bone growth (By similarity). Phosphorylates and activates CFTR on the plasma membrane. Plays a key role in intestinal secretion by regulating cGMP-dependent translocation of CFTR in jejunum (By similarity). Acts downstream of NMDAR to activate the plasma membrane accumulation of GRIA1/GLUR1 in synapse and increase synaptic plasticity. Phosphorylates GRIA1/GLUR1 at Ser-863 (By similarity). Acts as regulator of gene expression and activator of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK [...] 9606.ENSP00000264400,RASGEF1B,473,"Ras-GEF domain-containing family member 1B; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro)." 9606.ENSP00000264409,GPAT3,434,"Glycerol-3-phosphate acyltransferase 3; Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3- phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone. Also converts LPA into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone ; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family." 9606.ENSP00000264414,CUL3,768,Cullin-3; Core component of multiple cullin-RING-based BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin- protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cu [...] 9606.ENSP00000264428,GLRB,497,"Glycine receptor subunit beta; Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1. Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents." 9606.ENSP00000264431,RAPGEF2,1499,"Rap guanine nucleotide exchange factor 2; Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP or not. Its binding to ligand-activated beta-1 adr [...] " 9606.ENSP00000264433,FNIP2,1114,Folliculin-interacting protein 2; Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. 9606.ENSP00000264434,C2orf42,574,Uncharacterized protein C2orf42; Chromosome 2 open reading frame 42. 9606.ENSP00000264436,ADD2,726,Beta-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit. Belongs to the aldolase class II family. Adducin subfamily. 9606.ENSP00000264444,MXD1,221,Max dimerization protein 1; Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by competing for MAX. 9606.ENSP00000264451,SLC30A9,568,Zinc transporter 9; Acts as a zinc transporter involved in intracellular zinc homeostasis. Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity). 9606.ENSP00000264454,SEC22C,303,Vesicle-trafficking protein SEC22c; May be involved in vesicle transport between the ER and the Golgi complex. 9606.ENSP00000264463,CDH10,788,Cadherin-10; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000264474,CSTA,98,"Cystatin-A, N-terminally processed; This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis." 9606.ENSP00000264498,FGF2,288,"Fibroblast growth factor 2; Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4. Also acts as an integrin ligand which is required for FGF2 signaling. Binds to integrin ITGAV:ITGB3. Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Can induce angiogenesis." 9606.ENSP00000264499,BBS7,715,"Bardet-Biedl syndrome 7 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] " 9606.ENSP00000264501,KIAA1109,5005,Transmembrane protein KIAA1109; KIAA1109. 9606.ENSP00000264515,RBBP5,538,"Retinoblastoma-binding protein 5; In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. In association with ASH2L and WDR5, stimulates the histone methyltransferase activities of KMT2 [...] " 9606.ENSP00000264538,IFT57,429,"Intraflagellar transport protein 57 homolog; Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'- AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear." 9606.ENSP00000264552,UBE2S,222,"Ubiquitin-conjugating enzyme E2 S; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes 'Lys-11'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by specifically elongating 'Lys-11'-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit. Also acts by elongating ubiqui [...] " 9606.ENSP00000264553,GZMM,257,"Granzyme M; Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells." 9606.ENSP00000264554,SHC2,582,SHC-transforming protein 2; Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons (By similarity). 9606.ENSP00000264555,PHRF1,1649,PHD and ring finger domains 1. 9606.ENSP00000264563,IL11,199,Interleukin-11; Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production. Also promotes the proliferation of hepatocytes in response to liver damage. Binding to its receptor formed by IL6ST and either IL11RA1 or IL11RA2 activates a signaling cascade that promotes cell proliferation. Signaling leads to the activation of intracellular protein kinases and the phosphorylation of STAT3. Belongs to the IL-6 superfamily. 9606.ENSP00000264595,AGA,346,N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. 9606.ENSP00000264596,NEIL3,605,"Endonuclease 8-like 3; DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA). In vitro, displays strong glycosylase activity towards the hydantoin lesions spiroiminodihydantoin (Sp) and guanidinohydantoin (Gh) in both ssDNA and dsDNA; also recognizes FapyA, FapyG, 5-OHU, 5-OHC, 5-OHMH, Tg and 8-oxoA lesions in ssDNA. No activity on 8-oxoG detected. Also shows weak DNA-(apurinic or apyrimidinic site) lyase activity. In vivo, appears to be the primary enzyme involved in removing Sp and G [...] " 9606.ENSP00000264601,RAB17,212,"Ras-related protein Rab-17; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in [...] " 9606.ENSP00000264605,MLPH,600,Melanophilin; Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. 9606.ENSP00000264606,HDAC4,1084,"Histone deacetylase 4; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. [...] " 9606.ENSP00000264607,ASB1,335,Ankyrin repeat and SOCS box protein 1; May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin- Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000264613,CP,1065,"Ceruloplasmin; Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity)." 9606.ENSP00000264634,WNT5A,380,"Protein Wnt-5a; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta- catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decre [...] " 9606.ENSP00000264637,THRA,490,"Thyroid hormone receptor alpha; [Isoform Alpha-1]: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. Belongs to the nuclear hormone receptor family. NR1 subfamily." 9606.ENSP00000264638,CNTNAP1,1384,"Contactin-associated protein 1; Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells." 9606.ENSP00000264639,PSMD3,534,"26S proteasome non-ATPase regulatory subunit 3; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S3 family." 9606.ENSP00000264645,CASC3,703,Protein CASC3; Required for pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs th [...] 9606.ENSP00000264649,ATP6V0A1,838,V-type proton ATPase 116 kDa subunit a isoform 1; Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity). 9606.ENSP00000264651,KRT24,525,"Keratin, type I cytoskeletal 24; Keratin 24; Belongs to the intermediate filament family." 9606.ENSP00000264657,STAT3,770,"Signal transducer and activator of transcription 3; Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors. Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the interleukin-6 (IL-6)-responsive elements identified in the promoters of various acute-phase protein genes. Activated by IL31 through IL31RA. Acts as a regulator of inflammatory response by regulating differenti [...] " 9606.ENSP00000264658,FBXL20,436,F-box/LRR-repeat protein 20; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neural transmission (By similarity). 9606.ENSP00000264661,KCNH4,1017,"Potassium voltage-gated channel subfamily H member 4; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly." 9606.ENSP00000264663,NNT,1086,"NAD(P) transhydrogenase, mitochondrial; The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland. In the N-terminal section; belongs to the AlaDH/PNT family." 9606.ENSP00000264664,FGF10,208,"Fibroblast growth factor 10; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing. Belongs to the heparin-binding growth factors family." 9606.ENSP00000264669,FASTKD3,662,"FAST kinase domain-containing protein 3, mitochondrial; Required for normal mitochondrial respiration. Increases steady-state levels and half-lives of a subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases mitochondrial complex IV assembly and activity." 9606.ENSP00000264670,NSUN2,767,"RNA cytosine C(5)-methyltransferase NSUN2; RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay. Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron- containing tRNA(Leu)(CAA) p [...] " 9606.ENSP00000264674,MECOM,1116,"Histone-lysine N-methyltransferase MECOM; [Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis." 9606.ENSP00000264689,UFSP2,469,"Ufm1-specific protease 2; Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation." 9606.ENSP00000264690,KLKB1,638,"Plasma kallikrein heavy chain; The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin; Belongs to the peptidase S1 family. Plasma kallikrein subfamily." 9606.ENSP00000264703,FNDC4,234,"Fibronectin type III domain-containing protein 4; Acts as an anti-inflammatory factor in the intestine and colon. Binds to and acts on macrophages to downregulate pro- inflammatory gene expression. Affects key macrophage functions, including phagocytosis, by downregulating many key pathways for macrophage activation, partly via by STAT3 activation and signaling. May be required to dampen the immunological response in colitis." 9606.ENSP00000264705,CAD,2225,"Glutamine-dependent carbamoyl-phosphate synthase; This protein is a 'fusion' protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase); In the central section; belongs to the metallo-dependent hydrolases superfamily. DHOase family. CAD subfamily." 9606.ENSP00000264709,DNMT3A,912,DNA (cytosine-5)-methyltransferase 3A; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimet [...] 9606.ENSP00000264710,RAB10,200,"Ras-related protein Rab-10; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane. Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles [...] " 9606.ENSP00000264711,DNAJC27,273,"DnaJ homolog subfamily C member 27; GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling." 9606.ENSP00000264712,KIF3C,793,Kinesin-like protein KIF3C; Microtubule-based anterograde translocator for membranous organelles; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily. 9606.ENSP00000264716,FOSL2,326,"Fos-related antigen 2; Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2- activated osteoblasts." 9606.ENSP00000264717,GCKR,625,"Glucokinase regulatory protein; Regulates glucokinase (GCK) by forming an inactive complex with this enzyme. Acts by promoting GCK recruitment to the nucleus, possibly to provide a reserve of GCK that can be quickly released in the cytoplasm after a meal. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity." 9606.ENSP00000264718,GPN1,388,"GPN-loop GTPase 1; Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import. Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. May be involved in nuclear localization of XPA." 9606.ENSP00000264731,TP63,680,Tumor protein 63; Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio o [...] 9606.ENSP00000264734,CLDN16,305,"Claudin-16; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors." 9606.ENSP00000264741,ITGA9,1035,"Integrin alpha-9; Integrin alpha-9/beta-1 (ITGA9:ITGB1) is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D- G-I-E-L in cytotactin." 9606.ENSP00000264758,ADD1,768,Alpha-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin. 9606.ENSP00000264771,TMEM175,504,"Endosomal/lysosomal potassium channel TMEM175; Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel." 9606.ENSP00000264773,KCNN2,579,Small conductance calcium-activated potassium channel protein 2; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin; Belongs to the potassium channel KCNN family. KCa2.2/KCNN2 subfamily. 9606.ENSP00000264775,PLPP1,285,"Phospholipid phosphatase 1; Magnesium-independent phospholipid phosphatase of the plasma membrane that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, diacylglycerol pyrophosphate/DGPP, sphingosine 1-phosphate/S1P and ceramide 1- phosphate/C1P. Also acts on N-oleoyl ethanolamine phosphate/N-(9Z-octadecenoyl)-ethanolamine phosphate, a potential physiological compound. Through its extracellular phosphatase activity allows both the hydrolysis and the cellular uptake of these bioactive lipid m [...] " 9606.ENSP00000264784,SLC2A9,540,"Solute carrier family 2, facilitated glucose transporter member 9; Urate transporter, which may play a role in the urate reabsorption by proximal tubules. Does not transport glucose, fructose or galactose. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily." 9606.ENSP00000264808,PRDM5,630,"PR domain zinc finger protein 5; Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. Ma [...] " 9606.ENSP00000264819,MIER2,545,Mesoderm induction early response protein 2; Transcriptional repressor. 9606.ENSP00000264824,LYL1,280,Protein lyl-1; LYL1 basic helix-loop-helix family member. 9606.ENSP00000264828,COL5A3,1745,"Collagen alpha-3(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin." 9606.ENSP00000264832,ICAM1,532,"Intercellular adhesion molecule 1; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). During leukocyte trans-endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through ARHGEF26/SGEF and RHOG activation. (Microbial infection) Acts as a receptor for Coxsackievirus A21 capsid proteins." 9606.ENSP00000264833,OLFM2,454,"Noelin-2; Involved in transforming growth factor beta (TGF-beta)- induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes. Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs underg [...] " 9606.ENSP00000264834,KLF1,362,"Krueppel-like factor 1; Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a tr [...] " 9606.ENSP00000264864,PI4K2B,481,"Phosphatidylinositol 4-kinase type 2-beta; Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell. This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments. The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the [...] " 9606.ENSP00000264866,TBC1D19,526,TBC1 domain family member 19; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000264867,PPARGC1A,798,Peroxisome proliferator-activated receptor gamma coactivator 1-alpha; Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in [...] 9606.ENSP00000264870,F13A1,732,"Coagulation factor XIII A chain; Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl- epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin." 9606.ENSP00000264883,NUP54,507,"Nucleoporin p54; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane." 9606.ENSP00000264896,SCARB2,478,Lysosome membrane protein 2; Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting. 9606.ENSP00000264904,USO1,973,General vesicular transport factor p115; General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity. 9606.ENSP00000264908,ANXA3,323,"Annexin A3; Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate; Belongs to the annexin family." 9606.ENSP00000264914,ARSB,533,"Arylsulfatase B; Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation. Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium. In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). Belongs to the sulfatase family." 9606.ENSP00000264917,PDE8B,885,"High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland." 9606.ENSP00000264926,RAD18,495,E3 ubiquitin-protein ligase RAD18; E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap- filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA- associated PCNA on 'Lys-164'. Has ssDNA binding activity. 9606.ENSP00000264930,SLC12A7,1083,Solute carrier family 12 member 7; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity); Belongs to the SLC12A transporter family. 9606.ENSP00000264932,SDHA,664,"Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor ; Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily." 9606.ENSP00000264933,PDCD6,191,"Programmed cell death protein 6; Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes. Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby b [...] " 9606.ENSP00000264935,CEP72,647,"Centrosomal protein of 72 kDa; Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2." 9606.ENSP00000264938,SLC9A3,834,Sodium/hydrogen exchanger 3; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. 9606.ENSP00000264951,XRN1,1706,5'-3' exoribonuclease 1; Major 5'-3' exoribonuclease involved in mRNA decay. Required for the 5'-3'-processing of the G4 tetraplex-containing DNA and RNA substrates. The kinetic of hydrolysis is faster for G4 RNA tetraplex than for G4 DNA tetraplex and monomeric RNA tetraplex. Binds to RNA and DNA (By similarity). Plays a role in replication-dependent histone mRNA degradation. May act as a tumor suppressor protein in osteogenic sarcoma (OGS). 9606.ENSP00000264952,GRK7,553,"Rhodopsin kinase GRK7; Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily." 9606.ENSP00000264954,GRPEL1,217,"GrpE protein homolog 1, mitochondrial; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Belongs to the GrpE family." 9606.ENSP00000264956,EVC,992,Ellis-van Creveld syndrome protein; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development. 9606.ENSP00000264968,MGAT4A,535,"Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form; Glycosyltransferase that participates in the transfer of N- acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells." 9606.ENSP00000264972,ZAP70,619,"Tyrosine-protein kinase ZAP-70; Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B- lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated [...] " 9606.ENSP00000264977,PPP2R3A,1150,"Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment." 9606.ENSP00000264982,CEP70,597,"Centrosomal protein of 70 kDa; Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle." 9606.ENSP00000264990,ACAD11,780,"Acyl-CoA dehydrogenase family member 11; Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA. Probably participates to beta-oxydation and energy production but could also play role in the metabolism of specific fatty acids to control fatty acids composition of cellular lipids in brain (Probable)." 9606.ENSP00000264993,CDV3,258,CDV3 homolog. 9606.ENSP00000264995,MRPL3,348,Mitochondrial ribosomal protein L3. 9606.ENSP00000265000,GALNT7,657,"N-acetylgalactosaminyltransferase 7; Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D- galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide s [...] " 9606.ENSP00000265007,SOX30,753,"Transcription factor SOX-30; Acts as both a transcriptional activator and repressor. Binds to the DNA sequence 5'-ACAAT- 3' and shows a preference for guanine residues surrounding this core motif. Binds to its own promoter and activates its own transcription (By similarity). Required to activate the expression of postmeiotic genes involved in spermiogenesis (By similarity). Binds to the promoter region of CTNNB1 and represses its transcription which leads to inhibition of Wnt signaling. Also inhibits Wnt signaling by binding to the CTNNB1 protein, preventing interaction of CTNNB1 with [...] " 9606.ENSP00000265016,BST1,318,"ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2; Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth; Belongs to the ADP-ribosyl cyclase family." 9606.ENSP00000265018,FAM184B,1060,Protein FAM184B; Family with sequence similarity 184 member B; Belongs to the FAM184 family. 9606.ENSP00000265022,DGKG,791,Diacylglycerol kinase gamma; Reverses the normal flow of glycerolipid biosynthesis by phosphorylating diacylglycerol back to phosphatidic acid. 9606.ENSP00000265026,MAP3K13,966,"Mitogen-activated protein kinase kinase kinase 13; Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB- containing complex that phosphorylates inhibitors of NF-kappa-B." 9606.ENSP00000265029,FETUB,382,"Fetuin-B; Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity)." 9606.ENSP00000265036,DEPDC1B,529,DEP domain containing 1B. 9606.ENSP00000265038,ERCC8,396,"DNA excision repair protein ERCC-8; Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-b [...] " 9606.ENSP00000265052,MGLL,313,"Monoglyceride lipase; Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2- arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain. Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth. Belongs to the AB hydrolase superfamily. Monoacylglycerol lipase family." 9606.ENSP00000265056,MCM2,904,"DNA replication licensing factor MCM2; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] " 9606.ENSP00000265062,RAB7A,207,"Ras-related protein Rab-7a; Key regulator in endo-lysosomal trafficking. Governs early- to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulat [...] " 9606.ENSP00000265068,KIAA1257,409,Uncharacterized protein KIAA1257. 9606.ENSP00000265069,ZFR,1074,Zinc finger RNA-binding protein; Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity). 9606.ENSP00000265070,GOLPH3,298,"Golgi phosphoprotein 3; Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through inter [...] " 9606.ENSP00000265071,CDH6,790,Cadherin-6; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000265073,SUB1,127,"Activated RNA polymerase II transcriptional coactivator p15; General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA)." 9606.ENSP00000265074,NPR3,541,"Atrial natriuretic peptide receptor 3; Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. May regulate diuresis, blood pressure and skeletal development. Does not have guanylate cyclase activity." 9606.ENSP00000265077,VCAN,3396,"Versican core protein; May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid." 9606.ENSP00000265080,RASGRF2,1237,Ras-specific guanine nucleotide-releasing factor 2; Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation. 9606.ENSP00000265081,MSH3,1137,"DNA mismatch repair protein Msh3; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, a [...] " 9606.ENSP00000265085,CPEB4,729,"Cytoplasmic polyadenylation element-binding protein 4; Sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism. Regulates activation of unfolded protein response (UPR) in the process of adaptation to ER stress in liver, by maintaining translation of CPE- regulated mRNAs in conditions in which global protein synthesis is inhibited (By similarity). Required for [...] " 9606.ENSP00000265087,STC2,302,Stanniocalcin-2; Has an anti-hypocalcemic action on calcium and phosphate homeostasis; Belongs to the stanniocalcin family. 9606.ENSP00000265094,FBXW11,542,"F-box/WD repeat-containing protein 11; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) mediat [...] " 9606.ENSP00000265097,THOC3,351,"THO complex subunit 3; Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap- dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cy [...] " 9606.ENSP00000265104,DNAH5,4624,"Dynein heavy chain 5, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles." 9606.ENSP00000265107,WDR70,654,WD repeat domain 70; Belongs to the WD repeat GAD-1 family. 9606.ENSP00000265113,SLC1A3,542,"Excitatory amino acid transporter 1; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which [...] " 9606.ENSP00000265131,TNC,2201,"Tenascin; Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha- V/beta-6. In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells." 9606.ENSP00000265132,AMBP,352,"Inter-alpha-trypsin inhibitor light chain; Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization; In the N-terminal section; belongs to the calycin superfamily. Lipocalin family." 9606.ENSP00000265138,ARRDC3,414,"Arrestin domain-containing protein 3; Adapter protein that plays a role in regulating cell-surface expression of adrenergic receptors and probably also other G protein- coupled receptors. Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation. May recruit NEDD4 to ADRB2. Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes. Belongs to the arrestin family." 9606.ENSP00000265140,SLF1,1058,SMC5-SMC6 complex localization factor protein 1; Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions. 9606.ENSP00000265148,CENPE,2701,"Centromere-associated protein E; Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules. The transport of pole-pro [...] " 9606.ENSP00000265162,ENPEP,957,Glutamyl aminopeptidase; Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II. 9606.ENSP00000265164,CASP6,293,"Caspase-6 subunit p11; Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death; Belongs to the peptidase C14A family." 9606.ENSP00000265165,LEF1,399,"Lymphoid enhancer-binding factor 1; Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). Isoform 3 lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling. Isoform 5 [...] " 9606.ENSP00000265171,EGF,1207,Pro-epidermal growth factor; EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro. 9606.ENSP00000265174,PAPSS1,624,"Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1; Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. Required [...] " 9606.ENSP00000265191,NME5,212,Nucleoside diphosphate kinase homolog 5; Does not seem to have NDK kinase activity. Confers protection from cell death by Bax and alters the cellular levels of several antioxidant enzymes including Gpx5. May play a role in spermiogenesis by increasing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity). 9606.ENSP00000265195,SIL1,461,Nucleotide exchange factor SIL1; Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5; Belongs to the SIL1 family. 9606.ENSP00000265224,ANKRD7,254,Ankyrin repeat domain 7. 9606.ENSP00000265239,IQCG,443,"Dynein regulatory complex protein 9; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility." 9606.ENSP00000265245,LSG1,658,Large subunit GTPase 1 homolog; GTPase required for the XPO1/CRM1-mediated nuclear export of the 60S ribosomal subunit. Probably acts by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm (Probable). 9606.ENSP00000265260,PCNP,178,PEST proteolytic signal-containing nuclear protein; May be involved in cell cycle regulation. 9606.ENSP00000265271,RBM27,1060,RNA binding motif protein 27. 9606.ENSP00000265276,GPAM,828,"Glycerol-3-phosphate acyltransferase 1, mitochondrial; Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis." 9606.ENSP00000265295,SPDL1,605,Protein Spindly; Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment. Acts as an adapter protein linking the dynein motor complex to various [...] 9606.ENSP00000265299,MINDY4,757,Probable ubiquitin carboxyl-terminal hydrolase MINDY-4; Probable hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins; Belongs to the MINDY deubiquitinase family. FAM188 subfamily. 9606.ENSP00000265310,TRPV5,729,Transient receptor potential cation channel subfamily V member 5; Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 hete [...] 9606.ENSP00000265316,ABCB6,842,"ATP-binding cassette sub-family B member 6, mitochondrial; Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis; Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily." 9606.ENSP00000265322,PECR,303,"Peroxisomal trans-2-enoyl-CoA reductase; Participates in chain elongation of fatty acids. Has no 2,4- dienoyl-CoA reductase activity." 9606.ENSP00000265334,CDKL3,592,Cyclin-dependent kinase-like 3; Cyclin dependent kinase like 3; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. 9606.ENSP00000265339,UBE2B,152,"Ubiquitin-conjugating enzyme E2 B; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys- 120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'- and 'Lys-63'-linked polyubiqui [...] " 9606.ENSP00000265340,PITX1,314,"Pituitary homeobox 1; Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. Belongs to the paired homeobox family. Bicoid subfamily." 9606.ENSP00000265342,FSTL4,842,Follistatin-related protein 4; Follistatin like 4. 9606.ENSP00000265343,AFF4,1163,"AF4/FMR2 family member 4; Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression." 9606.ENSP00000265350,MED20,212,"Mediator of RNA polymerase II transcription subunit 20; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000265351,XPO5,1204,"Exportin-5; Mediates the nuclear export of proteins bearing a double- stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of [...] " 9606.ENSP00000265354,SRF,508,"Serum response factor; SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G- actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. Required f [...] " 9606.ENSP00000265361,SEMA3C,751,"Semaphorin-3C; Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity)." 9606.ENSP00000265362,SEMA3A,771,Semaphorin-3A; Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1; Belongs to the semaphorin family. 9606.ENSP00000265371,NRP1,923,"Neuropilin-1; Receptor involved in the development of the cardiovascular system, in angiogenesis, in the formation of certain neuronal circuits and in organogenesis outside the nervous system. It mediates the chemorepulsant activity of semaphorins. It binds to semaphorin 3A, The PLGF-2 isoform of PGF, The VEGF165 isoform of VEGFA and VEGFB. Coexpression with KDR results in increased VEGF165 binding to KDR as well as increased chemotaxis. Regulates VEGF-induced angiogenesis. Binding to VEGFA initiates a signaling pathway needed for motor neuron axon guidance and cell body migration, inc [...] " 9606.ENSP00000265372,CREM,300,"cAMP-responsive element modulator; Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation." 9606.ENSP00000265379,COL6A5,2611,Collagen alpha-5(VI) chain; Collagen VI acts as a cell-binding protein. 9606.ENSP00000265381,APBA1,837,"Amyloid-beta A4 precursor protein-binding family A member 1; Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta." 9606.ENSP00000265382,PIP5K1B,540,"Phosphatidylinositol 4-phosphate 5-kinase type-1 beta; Participates in the biosynthesis of phosphatidylinositol 4,5- bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity)." 9606.ENSP00000265388,TNPO3,923,"Transportin-3; Importin, which transports target proteins into the nucleus. Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains. Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation. The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively. Importin associates with target cargo proteins in the cytoplasm, and t [...] " 9606.ENSP00000265395,HIBADH,336,"3-hydroxyisobutyrate dehydrogenase, mitochondrial; 3-hydroxyisobutyrate dehydrogenase." 9606.ENSP00000265403,UGT2B10,528,UDP-glucuronosyltransferase 2B10; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds; Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000265404,STAP1,295,"Signal-transducing adaptor protein 1; In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC." 9606.ENSP00000265421,POLB,335,DNA polymerase beta; Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases. 9606.ENSP00000265431,CALB1,261,"Calbindin; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)- ATPase and a 3',5'-cyclic nucleotide phosphodiesterase." 9606.ENSP00000265433,NBN,754,"Nibrin; Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double- strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recr [...] " 9606.ENSP00000265437,ST7,585,Suppressor of tumorigenicity 7 protein; May act as a tumor suppressor; Belongs to the ST7 family. 9606.ENSP00000265440,TFEC,347,Transcription factor EC; Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By sim [...] 9606.ENSP00000265441,WNT2,360,Protein Wnt-2; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family. Functions as upstream regulator of FGF10 expression. Plays an important role in embryonic lung development. May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (By similarity). 9606.ENSP00000265459,NRXN2,1712,Neurexin-2; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling. 9606.ENSP00000265462,PRDX5,214,"Peroxiredoxin-5, mitochondrial; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events; Belongs to the peroxiredoxin family. Prx5 subfamily." 9606.ENSP00000265465,POLA2,598,"DNA polymerase alpha subunit B; Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase subunit of the polymerase alpha comple [...] " 9606.ENSP00000265471,B3GAT3,335,"Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1 [...] " 9606.ENSP00000265560,USP4,963,Ubiquitin carboxyl-terminal hydrolase 4; Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins. Deubiquitinates PDPK1. Deubiquitinates TRIM21. Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface. May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3. This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP. May also play a role in the regulation of quality control in the ER. 9606.ENSP00000265562,PTPN23,1636,"Tyrosine-protein phosphatase non-receptor type 23; Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes. May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in ciliogenesis." 9606.ENSP00000265563,PRKAR2A,404,"cAMP-dependent protein kinase type II-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase." 9606.ENSP00000265564,EXOSC7,291,"Exosome complex component RRP42; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] " 9606.ENSP00000265565,SCAP,1279,"Sterol regulatory element-binding protein cleavage-activating protein; Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, prot [...] " 9606.ENSP00000265593,CLCN2,898,"Chloride channel protein 2; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage- gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis." 9606.ENSP00000265594,MCCC1,725,"Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism." 9606.ENSP00000265598,LAMP3,416,Lysosome-associated membrane glycoprotein 3; May play a role in dendritic cell function and in adaptive immunity. 9606.ENSP00000265602,AHI1,1196,"Jouberin; Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development." 9606.ENSP00000265605,ALDH8A1,487,2-aminomuconic semialdehyde dehydrogenase; Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation. 9606.ENSP00000265627,PON3,354,Serum paraoxonase/lactonase 3; Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. lovastatin). Hydrolyzes aromatic lactones and 5- or 6-member ring lactones with aliphatic substituents but not simple lactones or those with polar substituents. Belongs to the paraoxonase family. 9606.ENSP00000265634,NPTX2,431,Neuronal pentraxin-2; Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner (By similarity). 9606.ENSP00000265641,CPT1A,773,"Carnitine O-palmitoyltransferase 1, liver isoform; Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism." 9606.ENSP00000265643,GAL,123,"Galanin message-associated peptide; Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiologic functions including contraction of smooth muscle of the gastrointestinal and genitourinary tract, growth hormone and insulin release and adrenal secretion; Belongs to the galanin family." 9606.ENSP00000265651,FBXO3,471,"F-box only protein 3; Substrate recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the ubiquitination of HIPK2 and probably that of EP300, leading to rapid degradation by the proteasome. In the presence of PML, HIPK2 ubiquitination still occurs, but degradation is prevented. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation." 9606.ENSP00000265686,TCIRG1,830,V-type proton ATPase 116 kDa subunit a isoform 3; Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation; Belongs to the V-ATPase 116 kDa subunit family. 9606.ENSP00000265689,CHKA,457,Choline kinase alpha; Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline. 9606.ENSP00000265707,ADAM18,739,Disintegrin and metalloproteinase domain-containing protein 18; Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity). 9606.ENSP00000265708,ADAM2,735,Disintegrin and metalloproteinase domain-containing protein 2; Sperm surface membrane protein that may be involved in sperm- egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein. 9606.ENSP00000265709,ANK1,1897,"Ankyrin-1; Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions." 9606.ENSP00000265713,KAT6A,2004,Histone acetyltransferase KAT6A; Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. 9606.ENSP00000265717,PRKAR2B,418,"cAMP-dependent protein kinase type II-beta regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase." 9606.ENSP00000265720,DUS4L,317,"tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs; Belongs to the Dus family. Dus4 subfamily." 9606.ENSP00000265723,ABCB4,1286,Phosphatidylcholine translocator ABCB4; Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts. Plays a role in the recruitment of pho [...] 9606.ENSP00000265727,ADAM22,906,Disintegrin and metalloproteinase domain-containing protein 22; Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1. 9606.ENSP00000265728,DBF4,674,Protein DBF4 homolog A; Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7- DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle. 9606.ENSP00000265729,SRI,198,Sorcin; Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels. 9606.ENSP00000265732,RBM48,367,RNA binding motif protein 48; Belongs to the RBM48 family. 9606.ENSP00000265734,CDK6,326,"Cyclin-dependent kinase 6; Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cel [...] " 9606.ENSP00000265742,ANKIB1,1089,"Ankyrin repeat and IBR domain-containing protein 1; Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates; Belongs to the RBR family." 9606.ENSP00000265748,ANLN,1124,Anillin; Required for cytokinesis. Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis. May play a significant role in podocyte cell migration. 9606.ENSP00000265753,EIF4H,248,Eukaryotic translation initiation factor 4H; Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA. 9606.ENSP00000265769,ADAM28,775,"Disintegrin and metalloproteinase domain-containing protein 28; May play a role in the adhesive and proteolytic events that occur during lymphocyte emigration or may function in ectodomain shedding of lymphocyte surface target proteins, such as FASL and CD40L. May be involved in sperm maturation." 9606.ENSP00000265806,R3HCC1,440,R3H domain and coiled-coil containing 1. 9606.ENSP00000265807,SH2D4A,454,"SH2 domain-containing protein 4A; Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T- cell development and function." 9606.ENSP00000265825,FSCN3,498,Fascin-3; Acts as an actin bundling protein; Belongs to the fascin family. 9606.ENSP00000265827,ZNF800,664,Zinc finger protein 800; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000265838,ACAT1,427,"Acetyl-CoA acetyltransferase, mitochondrial; This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms. The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA. Thereby, it plays a major role in ketone body metabolism." 9606.ENSP00000265840,ELMOD1,334,"ELMO domain-containing protein 1; Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family." 9606.ENSP00000265843,EXPH5,1989,Exophilin-5; May act as Rab effector protein and play a role in vesicle trafficking. 9606.ENSP00000265849,PMS2,862,"Mismatch repair endonuclease PMS2; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing th [...] " 9606.ENSP00000265857,GET4,327,"Golgi to ER traffic protein 4 homolog; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches- containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of [...] " 9606.ENSP00000265866,HNRNPH3,346,Heterogeneous nuclear ribonucleoprotein H3; Involved in the splicing process and participates in early heat shock-induced splicing arrest. Due to their great structural variations the different isoforms may possess different functions in the splicing reaction. 9606.ENSP00000265872,CCAR1,1150,Cell division cycle and apoptosis regulator protein 1; Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apopto [...] 9606.ENSP00000265896,SQLE,574,"Squalene monooxygenase; Catalyzes the stereospecific oxidation of squalene to (S)- 2,3-epoxysqualene, and is considered to be a rate-limiting enzyme in steroid biosynthesis." 9606.ENSP00000265909,SNX19,992,Sorting nexin-19; Plays a role in intracellular vesicle trafficking and exocytosis. May play a role in maintaining insulin- containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity). Belongs to the sorting nexin family. 9606.ENSP00000265922,BRINP1,761,BMP/retinoic acid-inducible neural-specific protein 1; Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway; Belongs to the BRINP family. 9606.ENSP00000265960,MAPKAP1,522,"Target of rapamycin complex 2 subunit MAPKAP1; Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the [...] " 9606.ENSP00000265963,GTF2H1,548,"General transcription factor IIH subunit 1; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...] " 9606.ENSP00000265965,SERGEF,458,"Secretion-regulating guanine nucleotide exchange factor; Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process." 9606.ENSP00000265967,HPS5,1129,"Hermansky-Pudlak syndrome 5 protein; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. Belongs to the HPS5 family." 9606.ENSP00000265969,KCNC1,585,"Potassium voltage-gated channel subfamily C member 1; Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action [...] " 9606.ENSP00000265970,PIK3C2A,1686,"Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion dow [...] " 9606.ENSP00000265978,FAM160A2,986,FTS and Hook-interacting protein; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Belongs to the UPF0518 family. 9606.ENSP00000265981,RNF141,230,RING finger protein 141; May be involved in spermatogenesis. 9606.ENSP00000265983,HPX,462,"Hemopexin; Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation." 9606.ENSP00000265986,IDE,1019,"Insulin-degrading enzyme; Plays a role in the cellular breakdown of insulin, APP peptides, IAPP peptides, glucagon, bradykinin, kallidin and other peptides, and thereby plays a role in intercellular peptide signaling. Substrate binding induces important conformation changes, making it possible to bind and degrade larger substrates, such as insulin. Contributes to the regulation of peptide hormone signaling cascades and regulation of blood glucose homeostasis via its role in the degradation of insulin, glucagon and IAPP (By similarity). Plays a role in the degradation and clearance of A [...] " 9606.ENSP00000265990,BTAF1,1849,TATA-binding protein-associated factor 172; Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner; Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000265997,CPEB3,698,"Cytoplasmic polyadenylation element-binding protein 3; Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator (By similarity). In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3'-UTR, but binds to a U-rich loop within a stem-loop structure (By similarity). Required for the consolidation and maintenance of hippocampal-based long term memory (By similarity). In the basal state, bi [...] " 9606.ENSP00000266000,DAXX,740,"Death domain-associated protein 6; Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 throu [...] " 9606.ENSP00000266014,GLT8D1,371,Glycosyltransferase 8 domain containing 1; Belongs to the glycosyltransferase 8 family. 9606.ENSP00000266022,RBM6,1123,RNA-binding protein 6; Specifically binds poly(G) RNA homopolymers in vitro. 9606.ENSP00000266025,TMEM115,351,Transmembrane protein 115; May play a role in retrograde transport of proteins from the Golgi to the endoplasmic reticulum. May indirectly play a role in protein glycosylation in the Golgi. 9606.ENSP00000266031,HYAL1,435,Hyaluronidase-1; May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth; Belongs to the glycosyl hydrolase 56 family. 9606.ENSP00000266037,DOCK3,2030,"Dedicator of cytokinesis protein 3; Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell- substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion r [...] " 9606.ENSP00000266041,ITIH4,930,35 kDa inter-alpha-trypsin inhibitor heavy chain H4; Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration. 9606.ENSP00000266058,SLIT1,1534,"Slit homolog 1 protein; Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions (By similarity). SLIT1 and SLIT2 together seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb." 9606.ENSP00000266066,SFRP5,317,"Secreted frizzled-related protein 5; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP5 may be involved in determining the polarity of photoreceptor, and perhaps, other cells in the retina." 9606.ENSP00000266068,GMEB2,530,Glucocorticoid modulatory element-binding protein 2; Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses. 9606.ENSP00000266069,GID8,228,Glucose-induced degradation protein 8 homolog; Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation ; Belongs to the GID8 family. 9606.ENSP00000266070,DIDO1,2240,"Death-inducer obliterator 1; Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development." 9606.ENSP00000266077,SLC2A4RG,387,SLC2A4 regulator; Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5'-GCCGGCG-3'. 9606.ENSP00000266079,PRPF6,941,"Pre-mRNA-processing factor 6; Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone- induced transactivation activity of AR, as well as dexamethasone- induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation." 9606.ENSP00000266085,TIMP3,211,"Metalloproteinase inhibitor 3; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15." 9606.ENSP00000266086,SLC5A4,659,"Solute carrier family 5 member 4; Has electrogenic activity in response to glucose, and may function as a glucose sensor. Mediates influx of sodium ions into the cell but does not transport sugars. Also potently activated by imino sugars such as deoxynojirimycin (DNJ). Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family." 9606.ENSP00000266087,FBXO7,522,F-box only protein 7; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. 9606.ENSP00000266088,SLC5A1,664,Sodium/glucose cotransporter 1; Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. 9606.ENSP00000266126,EIF2B2,351,Translation initiation factor eIF-2B subunit beta; Catalyzes the exchange of eukaryotic initiation factor 2- bound GDP for GTP; Belongs to the eIF-2B alpha/beta/delta subunits family. 9606.ENSP00000266254,TTLL1,423,"Probable tubulin polyglutamylase TTLL1; Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity)." 9606.ENSP00000266263,MTFP1,166,"Mitochondrial fission process protein 1; Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis. Belongs to the MTFP1 family." 9606.ENSP00000266269,PATZ1,687,"POZ-, AT hook-, and zinc finger-containing protein 1; Transcriptional repressor." 9606.ENSP00000266304,TEF,303,Thyrotroph embryonic factor; Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5'- [TC][AG][AG]TTA[TC][AG]-3'; Belongs to the bZIP family. PAR subfamily. 9606.ENSP00000266376,CACNA1C,2186,"Voltage-dependent L-type calcium channel subunit alpha-1C; Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents. Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm. Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via [...] " 9606.ENSP00000266383,B4GALNT3,998,"Beta-1,4-N-acetylgalactosaminyltransferase 3; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'- diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N'- diacetyllactosediamine formation on gastric mucosa. Belongs to the chondroitin N- acetylgalactosaminyltransferase family." 9606.ENSP00000266395,PDE6H,83,"Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G- protein-mediated phototransduction in vertebrate rods and cones; Belongs to the rod/cone cGMP-PDE gamma subunit family." 9606.ENSP00000266397,ERP27,273,Endoplasmic reticulum resident protein 27; Specifically binds unfolded proteins and may recruit protein disulfide isomerase PDIA3 to unfolded substrates. Binds protein substrates via a hydrophobic pocket in the C-terminal domain. May play a role in the unfolded stress response. 9606.ENSP00000266483,ALG10,473,"Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol; Belongs to the ALG10 glucosyltransferase family." 9606.ENSP00000266503,ARNTL2,636,"Aryl hydrocarbon receptor nuclear translocator-like protein 2; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressur [...] " 9606.ENSP00000266505,PLCZ1,608,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is t [...] " 9606.ENSP00000266529,ZCRB1,217,Zinc finger CCHC-type and RNA binding motif containing 1. 9606.ENSP00000266534,TMEM117,514,Transmembrane protein 117; Involved in endoplasmic reticulum (ER) stress-induced cell death pathway; Belongs to the TMEM117 family. 9606.ENSP00000266542,C1RL,487,Complement C1r subcomponent-like protein; Mediates the proteolytic cleavage of HP/haptoglobin in the endoplasmic reticulum; Belongs to the peptidase S1 family. 9606.ENSP00000266544,NDUFA9,377,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000266546,CLSTN3,956,"Calsyntenin-3; May modulate calcium-mediated postsynaptic signals. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation." 9606.ENSP00000266551,KLRG1,195,"Killer cell lectin-like receptor subfamily G member 1; Plays an inhibitory role on natural killer (NK) cells and T- cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E- cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells." 9606.ENSP00000266556,TAPBPL,468,"Tapasin-related protein; Component of the antigen processing and presentation pathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class I occurs in the absence of a functional peptide-loading complex (PLC)." 9606.ENSP00000266557,CD27,260,CD27 antigen; Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1. 9606.ENSP00000266560,RBP5,135,Retinol-binding protein 5; Intracellular transport of retinol. 9606.ENSP00000266579,SLC38A4,547,"Sodium-coupled neutral amino acid transporter 4; Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5." 9606.ENSP00000266581,AMIGO2,522,Amphoterin-induced protein 2; Required for depolarization-dependent survival of cultured cerebellar granule neurons. May mediate homophilic as well as heterophilic cell-cell interaction with AMIGO1 or AMIGO3. May contribute to signal transduction through its intracellular domain. May be required for tumorigenesis of a subset of gastric adenocarcinomas. 9606.ENSP00000266594,ANP32D,131,Acidic nuclear phosphoprotein 32 family member D; Belongs to the ANP32 family. 9606.ENSP00000266604,LLPH,129,"Protein LLP homolog; In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission." 9606.ENSP00000266643,MARCHF9,346,"E3 ubiquitin-protein ligase MARCHF9; E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates." 9606.ENSP00000266646,INHBE,350,"Inhibin beta E chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins." 9606.ENSP00000266659,GLIPR1,266,Glioma pathogenesis-related protein 1; GLI pathogenesis related 1; Belongs to the CRISP family. 9606.ENSP00000266671,PHLDA1,401,Pleckstrin homology-like domain family A member 1; Seems to be involved in regulation of apoptosis. May be involved in detachment-mediated programmed cell death. May mediate apoptosis during neuronal development. May be involved in regulation of anti-apoptotic effects of IGF1. May be involved in translational regulation. 9606.ENSP00000266673,TMEM19,336,Transmembrane protein 19. 9606.ENSP00000266674,LGR5,907,"Leucine-rich repeat-containing G-protein coupled receptor 5; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the [...] " 9606.ENSP00000266679,CPSF6,588,"Cleavage and polyadenylation specificity factor subunit 6; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The [...] " 9606.ENSP00000266682,SLC6A15,730,"Sodium-dependent neutral amino acid transporter B(0)AT2; Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent." 9606.ENSP00000266712,TMTC3,914,"Protein O-mannosyl-transferase TMTC3; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3. Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response." 9606.ENSP00000266718,LUM,338,Lumican; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. 9606.ENSP00000266719,KERA,352,Keratocan; May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix. 9606.ENSP00000266732,TMPO,694,"Lamina-associated polypeptide 2, isoform alpha; May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1." 9606.ENSP00000266735,SNRPF,86,"Small nuclear ribonucleoprotein F; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing." 9606.ENSP00000266736,AMDHD1,426,Probable imidazolonepropionase; Amidohydrolase domain containing 1. 9606.ENSP00000266744,ASCL1,236,"Achaete-scute homolog 1; Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in mos [...] " 9606.ENSP00000266771,SLC15A4,577,Solute carrier family 15 member 4; Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides. 9606.ENSP00000266970,CDK2,298,"Cyclin-dependent kinase 2; Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CTNNB1, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, EZH2. Triggers duplication of centrosomes and DNA. Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and coordinates the activation of cyclin B/CDK [...] " 9606.ENSP00000266980,SLC39A5,540,Zinc transporter ZIP5; May play a role in polarized cells by carrying out serosal- to-mucosal zinc transport. Plays a role in eye development. Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera. Seems to play a central role in controlling organismal zinc status (By similarity). 9606.ENSP00000266987,TARBP2,366,"RISC-loading complex subunit TARBP2; Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from [...] " 9606.ENSP00000267017,NPFF,113,"Pro-FMRFamide-related neuropeptide FF; Morphine modulating peptides. Have wide-ranging physiologic effects, including the modulation of morphine-induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ASIC1 and ASIC3 channels." 9606.ENSP00000267082,ITGB7,798,"Integrin beta-7; Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MA [...] " 9606.ENSP00000267085,CSAD,520,"Cysteine sulfinic acid decarboxylase; Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L- alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3- sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate." 9606.ENSP00000267101,ERBB3,1342,Receptor tyrosine-protein kinase erbB-3; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase. May also be activated by CSPG5. Involved in the regulation of myeloid cell differentiation. 9606.ENSP00000267102,LMBR1L,489,"Protein LMBR1L; Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (By similarity). LMBR1L stabilizes the beta- catenin destruction complex that is required for regulating CTNNB1 levels (By similarity). Acts as a LCN1 receptor and can mediate its endocytosis. Belongs to the LIMR family." 9606.ENSP00000267103,C12orf10,376,"UPF0160 protein MYG1, mitochondrial; Belongs to the UPF0160 (MYG1) family." 9606.ENSP00000267113,ESYT1,1114,Extended synaptotagmin-1; Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane; Belongs to the extended synaptotagmin family. 9606.ENSP00000267116,ANKRD52,1076,Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. 9606.ENSP00000267119,KRT71,523,"Keratin, type II cytoskeletal 71; Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle." 9606.ENSP00000267163,RB1,928,"Retinoblastoma-associated protein; Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransfer [...] " 9606.ENSP00000267199,VPS33A,596,"Vacuolar protein sorting-associated protein 33A; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosom [...] " 9606.ENSP00000267202,VPS37B,285,"Vacuolar protein sorting-associated protein 37B; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation." 9606.ENSP00000267205,RHOF,211,"Rho-related GTP-binding protein RhoF; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin-based morphology." 9606.ENSP00000267257,PXN,605,Paxillin; Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion); Belongs to the paxillin family. 9606.ENSP00000267260,SRRM4,611,"Serine/arginine repetitive matrix protein 4; Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural- specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural- specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity). Promotes alternative splicing of REST transcripts to pr [...] " 9606.ENSP00000267273,METTL21C,264,Protein-lysine methyltransferase METTL21C; Protein-lysine methyltransferase. Belongs to the methyltransferase superfamily. METTL21 family. 9606.ENSP00000267291,RNF113B,322,Ring finger protein 113B. 9606.ENSP00000267294,ZIC5,663,"Zinc finger protein ZIC 5; Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity); Belongs to the GLI C2H2-type zinc-finger protein family." 9606.ENSP00000267328,RAB20,234,"Ras-related protein Rab-20; Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes." 9606.ENSP00000267339,ANKRD10,420,Ankyrin repeat domain 10. 9606.ENSP00000267377,SSTR1,391,Somatostatin receptor type 1; Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins. 9606.ENSP00000267396,REM2,340,GTP-binding protein REM 2; Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis. 9606.ENSP00000267406,CBLN3,205,Cerebellin-3; May be involved in synaptic functions in the CNS. 9606.ENSP00000267415,TINF2,451,"TERF1-interacting nuclear factor 2; Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix." 9606.ENSP00000267425,NOP9,636,NOP9 nucleolar protein. 9606.ENSP00000267426,FITM1,292,Fat storage-inducing transmembrane protein 1; Plays an important role in lipid droplet accumulation. Belongs to the FIT family. 9606.ENSP00000267430,FANCM,2048,"Fanconi anemia group M protein; DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross- linking drugs, and prevention of chromosomal breakage. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork- structured DNA (fsDNA) and Holliday junction substrates. Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This acti [...] " 9606.ENSP00000267436,L2HGDH,463,"L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-2-hydroxyglutarate dehydrogenase; Belongs to the L2HGDH family." 9606.ENSP00000267460,PELI2,420,"E3 ubiquitin-protein ligase pellino homolog 2; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL- 1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates IL1B-induced IRAK1 'Lys-63'-linked polyubiquitination and possibly 'Lys-48'-linked ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3- dependent, NF-kappa-B activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1." 9606.ENSP00000267484,RTN1,776,Reticulon-1; May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. 9606.ENSP00000267485,ARMH4,774,Armadillo-like helical domain-containing protein 4; Armadillo like helical domain containing 4. 9606.ENSP00000267549,GPR65,337,Psychosine receptor; Receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids. Plays a role in immune response by maintaining lysosome function and supporting phagocytosis-mediated intracellular bacteria clearance. May have a role in activation-induced cell death or differentiation of T-cells (By similarity). 9606.ENSP00000267569,JDP2,174,"Jun dimerization protein 2; Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins. Involved in a variety of transcriptional responses associated with AP-1 such as UV- induced apoptosis, cell differentiation, tumorigenesis and antitumogeneris. Can also function as a repressor by recruiting histone deacetylase 3/HDAC3 to the promoter region of JUN. May control transcription via direct regulation of the modification of histones and the assembly of chromatin." 9606.ENSP00000267584,AK7,723,"Adenylate kinase 7; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. Involved in maintaining ciliary structure and function." 9606.ENSP00000267594,FAM181A,354,Protein FAM181A; Family with sequence similarity 181 member A. 9606.ENSP00000267615,ITPK1,414,"Inositol-tetrakisphosphate 1-kinase; Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate I [...] " 9606.ENSP00000267622,TRIP11,1979,"Thyroid receptor-interacting protein 11; Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function. It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex. Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription." 9606.ENSP00000267750,EMC4,183,ER membrane protein complex subunit 4; May mediate anti-apoptotic activity. 9606.ENSP00000267803,DUOXA1,483,Dual oxidase maturation factor 1; May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1. 9606.ENSP00000267807,ZNF280D,979,Zinc finger protein 280D; May function as a transcription factor. 9606.ENSP00000267812,MFAP1,439,Microfibrillar-associated protein 1; Involved in pre-mRNA splicing as a component of the spliceosome; Belongs to the MFAP1 family. 9606.ENSP00000267814,SORD,357,"Sorbitol dehydrogenase; Polyol dehydrogenase that catalyzes the reversible NAD(+)- dependent oxidation of various sugar alcohols. Is mostly active with D- sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D- xylulose, and D-ribulose, respectively. Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as d [...] " 9606.ENSP00000267838,LYSMD2,215,LysM and putative peptidoglycan-binding domain-containing protein 2; LysM domain containing 2. 9606.ENSP00000267842,SLC27A2,620,"Very long-chain acyl-CoA synthetase; Acyl CoA synthetase that activates long-chain and very long- chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl- CoA. Can also activate branched-chain fatty acids such as phytanic acid and pristanic acid. Does not activate C24 bile acids, cholate and chenodeoxycholate. In vitro, activates 3-alpha,7- alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Exhibits long-chain fatty acids (LCFA) transport activity and plays an important role in hepati [...] " 9606.ENSP00000267843,FGF7,194,"Fibroblast growth factor 7; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation; Belongs to the heparin-binding growth factors family." 9606.ENSP00000267845,HDC,662,Histidine decarboxylase; Catalyzes the biosynthesis of histamine from histidine. Belongs to the group II decarboxylase family. 9606.ENSP00000267853,MYZAP,466,"Myocardial zonula adherens protein; Plays a role in cellular signaling via Rho-related GTP- binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity). Belongs to the MYZAP family." 9606.ENSP00000267859,BNIP2,435,BCL2/adenovirus E1B 19 kDa protein-interacting protein 2; Implicated in the suppression of cell death. Interacts with the BCL-2 and adenovirus E1B 19 kDa proteins. 9606.ENSP00000267884,SRP14,136,"Signal recognition particle 14 kDa protein; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding." 9606.ENSP00000267889,DISP2,1401,Dispatched RND transporter family member 2. 9606.ENSP00000267890,TTBK2,1244,"Tau-tubulin kinase 2; Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro." 9606.ENSP00000267935,COMMD4,199,COMM domain-containing protein 4; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Down-regulates activation of NF- kappa-B. 9606.ENSP00000267938,UBE2Q2,375,Ubiquitin-conjugating enzyme E2 Q2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'- linked polyubiquitination. 9606.ENSP00000267953,BCL2A1,175,Bcl-2-related protein A1; Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity). 9606.ENSP00000267970,TSPAN3,253,"Tetraspanin-3; Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair; Belongs to the tetraspanin (TM4SF) family." 9606.ENSP00000267984,TLNRD1,362,"Talin rod domain-containing protein 1; Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells." 9606.ENSP00000268042,ARRDC4,418,Arrestin domain-containing protein 4; Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism plays also a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake. Belongs to the arrestin family. 9606.ENSP00000268053,CYP11A1,521,"Cholesterol side-chain cleavage enzyme, mitochondrial; A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones. Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R- hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the se [...] " 9606.ENSP00000268057,BBS4,519,"Bardet-Biedl syndrome 4 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] " 9606.ENSP00000268058,PML,882,"Protein PML; Functions via its association with PML-nuclear bodies (PML- NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases resp [...] " 9606.ENSP00000268070,ADAMTS17,1095,ADAM metallopeptidase with thrombospondin type 1 motif 17. 9606.ENSP00000268099,SCAMP2,329,Secretory carrier-associated membrane protein 2; Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface; Belongs to the SCAMP family. 9606.ENSP00000268122,RHCG,479,Ammonium transporter Rh type C; Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. 9606.ENSP00000268125,RLBP1,317,"Retinaldehyde-binding protein 1; Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11- trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'." 9606.ENSP00000268129,ABHD2,425,"Monoacylglycerol lipase ABHD2; Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane. Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2- arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester. Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2A [...] " 9606.ENSP00000268130,WDR93,686,WD repeat domain 93. 9606.ENSP00000268138,TICRR,1910,Treslin; Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre- replication complex (pre-RC) to pre-initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation; Belongs to the treslin family. 9606.ENSP00000268150,MFGE8,387,Lactadherin short form; Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein which may play a role in gamete interaction. 9606.ENSP00000268154,ZNF710,664,Zinc finger protein 710; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000268164,ST8SIA2,375,"Alpha-2,8-sialyltransferase 8B; May transfer sialic acid through alpha-2,8-linkages to the alpha-2,3-linked and alpha-2,6-linked sialic acid of N-linked oligosaccharides of glycoproteins and may be involved in PSA (polysialic acid) expression; Belongs to the glycosyltransferase 29 family." 9606.ENSP00000268182,IQGAP1,1657,Ras GTPase-activating-like protein IQGAP1; Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth. May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest. 9606.ENSP00000268184,CRTC3,619,"CREB-regulated transcription coactivator 3; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX acti [...] " 9606.ENSP00000268206,EFL1,1120,"Elongation factor-like GTPase 1; Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits." 9606.ENSP00000268231,SEPTIN12,358,"Septin-12; Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins. Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPa [...] " 9606.ENSP00000268261,PMM2,246,Phosphomannomutase 2; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions. 9606.ENSP00000268281,PRSS36,855,"Polyserase-2; Serine protease. Hydrolyzes the peptides N-t-Boc-Gln-Ala-Arg- AMC and N-t-Boc-Gln-Gly-Arg-AMC and, to a lesser extent, N-t-Boc-Ala- Phe-Lys-AMC and N-t-Boc-Val-Leu-Lys-AMC. Has a preference for substrates with an Arg instead of a Lys residue in position P1; Belongs to the peptidase S1 family." 9606.ENSP00000268379,UQCRC2,453,"Cytochrome b-c1 complex subunit 2, mitochondrial; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradie [...] " 9606.ENSP00000268383,CDR2,454,Cerebellar degeneration related protein 2. 9606.ENSP00000268389,IGSF6,241,Immunoglobulin superfamily member 6. 9606.ENSP00000268459,NKD1,470,Protein naked cuticle homolog 1; Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity. 9606.ENSP00000268482,DHX38,1227,Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16; Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome. 9606.ENSP00000268483,TXNL4B,149,Thioredoxin-like protein 4B; Essential role in pre-mRNA splicing. Required in cell cycle progression for S/G(2) transition; Belongs to the DIM1 family. 9606.ENSP00000268533,NUDT7,238,"Peroxisomal coenzyme A diphosphatase NUDT7; Coenzyme A diphosphatase which mediates the cleavage of CoA, CoA esters and oxidized CoA with similar efficiencies, yielding 3',5'- ADP and the corresponding 4'-phosphopantetheine derivative as products. CoA into 3',5'-ADP and 4'-phosphopantetheine. Has no activity toward NDP-sugars, CDP-alcohols, (deoxy)nucleoside 5'-triphosphates, nucleoside 5'-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5'-monophospho-p-nitrophenyl ester. May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA a [...] " 9606.ENSP00000268595,CMTM2,248,CKLF like MARVEL transmembrane domain containing 2. 9606.ENSP00000268603,CDH11,796,Cadherin-11; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000268613,CDH13,760,Cadherin-13; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May act as a negative regulator of neural cell growth. 9606.ENSP00000268616,ZCCHC14,949,Zinc finger CCHC-type containing 14. 9606.ENSP00000268624,ADAD2,665,Adenosine deaminase domain containing 2. 9606.ENSP00000268638,IRF8,426,"Interferon regulatory factor 8; Plays a role as a transcriptional activator or repressor. Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes [...] " 9606.ENSP00000268655,ZNF174,407,Zinc finger protein 174; Transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000268661,RPL3L,407,Ribosomal protein L3 like; Belongs to the universal ribosomal protein uL3 family. 9606.ENSP00000268668,NDUFB10,172,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000268676,DEF8,512,Differentially expressed in FDCP 8 homolog; Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption. 9606.ENSP00000268679,CBFA2T3,653,Protein CBFA2T3; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway. Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulatin [...] 9606.ENSP00000268695,GALNS,522,N-acetylgalactosamine-6-sulfatase; Galactosamine-6-sulfatase; Belongs to the sulfatase family. 9606.ENSP00000268699,GAS8,478,"Dynein regulatory complex subunit 4; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning. Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh [...] " 9606.ENSP00000268711,MED9,146,"Mediator of RNA polymerase II transcription subunit 9; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000268712,NCOR1,2440,"Nuclear receptor corepressor 1; Mediates transcriptional repression by certain nuclear receptors. Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation. Mediates the NR1D1-dependent repression and circadian regulation of TSHB expression (By [...] " 9606.ENSP00000268717,COPS3,423,"COP9 signalosome complex subunit 3; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN- [...] " 9606.ENSP00000268719,GID4,300,"Glucose-induced degradation protein 4 homolog; Substrate-recognition subunit of the CTLH E3 ubiquitin- protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (Probable). Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp. Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]- [Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Doe [...] " 9606.ENSP00000268720,CPNE7,633,Copine-7; Calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes. Belongs to the copine family. 9606.ENSP00000268766,NEK8,692,Serine/threonine-protein kinase Nek8; Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. 9606.ENSP00000268797,GFOD2,385,Glucose-fructose oxidoreductase domain-containing protein 2; Promotes matrix assembly. 9606.ENSP00000268802,NOB1,412,RNA-binding protein NOB1; May play a role in mRNA degradation (Probable). Endonuclease required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits (By similarity); Belongs to the NOB1 family. 9606.ENSP00000268835,PRPSAP2,369,Phosphoribosyl pyrophosphate synthase-associated protein 2; Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis. 9606.ENSP00000268876,UNC45B,931,Protein unc-45 homolog B; Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development. 9606.ENSP00000268919,KIF2B,673,Kinesin-like protein KIF2B; Plus end-directed microtubule-dependent motor required for spindle assembly and chromosome movement. Has microtubule depolymerization activity. Plays a role in chromosome congression. 9606.ENSP00000268933,EPN3,632,Epsin-3; Epsin 3. 9606.ENSP00000268989,SGSM2,1051,"Small G protein signaling modulator 2; Possesses GTPase activator activity towards RAB32, RAB33B and RAB38. Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation. Belongs to the RUTBC family." 9606.ENSP00000269025,LRRC46,321,Leucine-rich repeat-containing protein 46; Leucine rich repeat containing 46. 9606.ENSP00000269051,RHBDL3,404,Rhomboid-related protein 3; May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Belongs to the peptidase S54 family. 9606.ENSP00000269053,SPACA3,215,"Sperm acrosome membrane-associated protein 3, processed form; Sperm surface membrane protein that may be involved in sperm- egg plasma membrane adhesion and fusion during fertilization. It could be a potential receptor for the egg oligosaccharide residue N- acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane. The processed form has no detectable bacteriolytic activity in vitro." 9606.ENSP00000269081,ABCA10,1543,ATP-binding cassette sub-family A member 10; Probable transporter which may play a role in macrophage lipid homeostasis. 9606.ENSP00000269097,G6PC3,346,Glucose-6-phosphatase 3; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. 9606.ENSP00000269127,C17orf64,236,Uncharacterized protein C17orf64; Chromosome 17 open reading frame 64. 9606.ENSP00000269141,CDH2,906,"Cadherin-2; Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic s [...] " 9606.ENSP00000269143,AFG3L2,797,"AFG3-like protein 2; ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mito [...] " 9606.ENSP00000269159,IMPA2,288,"Inositol monophosphatase 2; Can use myo-inositol monophosphates, scylloinositol 1,4- diphosphate, glucose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. Has been implicated as the pharmacological target for lithium Li(+) action in brain." 9606.ENSP00000269187,SLC39A6,755,Zinc transporter ZIP6; May act as a zinc-influx transporter. Belongs to the ZIP transporter (TC 2.A.5) family. 9606.ENSP00000269195,GALNT1,559,"Polypeptide N-acetylgalactosaminyltransferase 1 soluble form; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7." 9606.ENSP00000269197,ASXL3,2248,"Putative Polycomb group protein ASXL3; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity); Belongs to the Asx family." 9606.ENSP00000269202,MEP1B,701,"Meprin A subunit beta; Membrane metallopeptidase that sheds many membrane-bound proteins. Exhibits a strong preference for acidic amino acids at the P1' position. Known substrates include: FGF19, VGFA, IL1B, IL18, procollagen I and III, E-cadherin, KLK7, gastrin, ADAM10, tenascin-C. The presence of several pro-inflammatory cytokine among substrates implicate MEP1B in inflammation. It is also involved in tissue remodeling due to its capability to degrade extracellular matrix components." 9606.ENSP00000269209,GAREM1,876,GRB2-associated and regulator of MAPK protein 1; [Isoform 1]: Acts as an adapter protein that plays a role in intracellular signaling cascades triggered either by the cell surface activated epidermal growth factor receptor and/or cytoplasmic protein tyrosine kinases. Promotes activation of the MAPK/ERK signaling pathway. Plays a role in the regulation of cell proliferation. Belongs to the GAREM family. 9606.ENSP00000269214,ESCO1,840,"N-acetyltransferase ESCO1; Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3." 9606.ENSP00000269216,GATA6,595,Transcription factor GATA-6; Transcriptional activator. Regulates SEMA3C and PLXNA2. Involved in gene regulation specifically in the gastric epithelium. May regulate genes that protect epithelial cells from bacterial infection. Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). 9606.ENSP00000269221,RMC1,657,Regulator of MON1-CCZ1 complex; Componement of the CCZ1-MON1 RAB7A guanine exchange factor (GEF). Acts as a positive regulator of CCZ1-MON1A/B function necessary for endosomal/autophagic flux and efficient RAB7A localization. 9606.ENSP00000269228,NPC1,1278,"NPC intracellular cholesterol transporter 1; Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, [...] " 9606.ENSP00000269289,ZMYND15,750,Zinc finger MYND domain-containing protein 15; Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis. 9606.ENSP00000269298,SAT2,170,Diamine acetyltransferase 2; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine > spermidine = spermine >> N(1)acetylspermine = putrescine. 9606.ENSP00000269299,ASGR1,291,"Asialoglycoprotein receptor 1; Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N- acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface." 9606.ENSP00000269305,TP53,393,"Cellular tumor antigen p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. Its pro-apoptotic activity is activated via its intera [...] " 9606.ENSP00000269346,TTYH2,534,Protein tweety homolog 2; Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation; Belongs to the tweety family. 9606.ENSP00000269373,FN3KRP,309,"Ketosamine-3-kinase; Ketosamine-3-kinase involved in protein deglycation by mediating phosphorylation of ribuloselysine and psicoselysine on glycated proteins, to generate ribuloselysine-3 phosphate and psicoselysine-3 phosphate, respectively. Ribuloselysine-3 phosphate and psicoselysine-3 phosphate adducts are unstable and decompose under physiological conditions. Not able to phosphorylate fructoselysine. Belongs to the fructosamine kinase family." 9606.ENSP00000269383,TRIM65,517,Tripartite motif containing 65; Belongs to the TRIM/RBCC family. 9606.ENSP00000269385,CBX8,389,"Chromobox protein homolog 8; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility." 9606.ENSP00000269389,SECTM1,248,Secreted and transmembrane protein 1; May be involved in thymocyte signaling. 9606.ENSP00000269391,RNF157,679,E3 ubiquitin ligase RNF157; E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons. Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical. May act as a scaffold molecule to regulate this process. Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle. 9606.ENSP00000269392,CEP131,1083,"Centrosomal protein of 131 kDa; Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation. In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation. In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner [...] " 9606.ENSP00000269394,ZNF750,723,Zinc finger protein 750; Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression. 9606.ENSP00000269397,CBX4,560,"E3 SUMO-protein ligase CBX4; E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I. Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131." 9606.ENSP00000269439,RNF165,346,"E3 ubiquitin-protein ligase RNF165; E3 ubiquitin-protein ligase that acts as a regulator of motor axon elongation. Required for efficient motor axon extension in the dorsal forelimb by enhancing the transcriptional responses of the SMAD1/SMAD5/SMAD8 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD6, SMAD7, SKI and SNON isoform of SKIL. Belongs to the Arkadia family." 9606.ENSP00000269445,DYM,669,Dymeclin; Necessary for correct organization of Golgi apparatus. Involved in bone development; Belongs to the dymeclin family. 9606.ENSP00000269466,ELAC1,363,"Zinc phosphodiesterase ELAC protein 1; Zinc phosphodiesterase, which displays some tRNA 3'- processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA; Belongs to the RNase Z family." 9606.ENSP00000269489,SERPINB13,400,Serpin B13; May play a role in the proliferation or differentiation of keratinocytes; Belongs to the serpin family. Ov-serpin subfamily. 9606.ENSP00000269499,ZCCHC2,1178,Zinc finger CCHC-type containing 2. 9606.ENSP00000269503,CBLN2,224,Cerebellin-2; Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for long-term maintenance but not establishment of excitatory synapses (By similarity). 9606.ENSP00000269571,ERBB2,1255,"Receptor tyrosine-protein kinase erbB-2; Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and [...] " 9606.ENSP00000269576,KRT10,584,"Keratin, type I cytoskeletal 10; Plays a role in the establishment of the epidermal barrier on plantar skin. (Microbial infection) Binds S.pneumoniae PsrP, mediating adherence of the bacteria to lung cell lines. Reduction of levels of KRT10 keratin decrease adherence, overexpression increases adherence. Neither protein has to be glycosylated for the interaction to occur." 9606.ENSP00000269582,PNMT,282,Phenylethanolamine N-methyltransferase; Converts noradrenaline to adrenaline; Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family. 9606.ENSP00000269586,ARL5C,179,Putative ADP-ribosylation factor-like protein 5C; Binds and exchanges GTP and GDP. 9606.ENSP00000269593,IGFBP4,258,Insulin-like growth factor-binding protein 4; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. 9606.ENSP00000269601,TXNL4A,142,"Thioredoxin-like protein 4A; Plays role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex); Belongs to the DIM1 family." 9606.ENSP00000269701,AKAP8,692,"A-kinase anchor protein 8; Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring. May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression. Required for cell cycle G2/M transition and histone deacetyla [...] " 9606.ENSP00000269703,CYP4F22,531,"Cytochrome P450 4F22; A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega- hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis. Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second [...] " 9606.ENSP00000269740,SLC39A3,314,Zinc transporter ZIP3; Acts as a zinc-influx transporter. 9606.ENSP00000269829,ZNF544,715,Zinc finger protein 544; May be involved in transcriptional regulation. 9606.ENSP00000269834,ZIM3,472,Zinc finger imprinted 3; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000269844,PRDM15,1507,"PR domain zinc finger protein 15; Sequence-specific DNA-binding transcriptional regulator. Plays a role as a molecular node in a transcriptional network regulating embryonic development and cell fate decision. Stimulates the expression of upstream key transcriptional activators and repressors of the Wnt/beta-catenin and MAPK/ERK pathways, respectively, that are essential for naive pluripotency and self-renewal maintenance of embryonic stem cells (ESCs). Specifically promotes SPRY1 and RSPO1 transcription activation through recognition and direct binding of a specific DNA sequence in th [...] " 9606.ENSP00000269848,PFKL,780,"ATP-dependent 6-phosphofructokinase, liver type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis. Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (By similarity). Belongs to the phosphofructokinase type A (PFKA) famil [...] " 9606.ENSP00000269856,FEM1A,669,"Protein fem-1 homolog A; Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with PTGER4; Belongs to the fem-1 family." 9606.ENSP00000269878,CIB3,187,Calcium and integrin binding family member 3. 9606.ENSP00000269881,CALR3,384,"Calreticulin-3; During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR." 9606.ENSP00000269886,SH3GL1,368,Endophilin-A2; Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity); Belongs to the endophilin family. 9606.ENSP00000269919,PGPEP1,209,Pyroglutamyl-peptidase 1; Removes 5-oxoproline from various penultimate amino acid residues except L-proline. 9606.ENSP00000269945,DMRTC2,367,Doublesex- and mab-3-related transcription factor C2; May be involved in sexual development. 9606.ENSP00000269967,CCDC97,343,Coiled-coil domain containing 97. 9606.ENSP00000269973,ZNF45,682,Zinc finger protein 45; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000269980,BCKDHA,445,"2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)." 9606.ENSP00000270001,ZFP14,533,Zinc finger protein 14 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000270061,SSBP4,385,Single stranded DNA binding protein 4. 9606.ENSP00000270066,SMG9,520,"Protein SMG9; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8. Plays a role in brain, heart, and eye development (By similarity). Belongs to the SMG9 family." 9606.ENSP00000270077,PSG9,426,Pregnancy specific beta-1-glycoprotein 9. 9606.ENSP00000270112,HUNK,714,Hormonally up-regulated Neu-associated kinase. 9606.ENSP00000270115,LRRC56,542,Leucine-rich repeat-containing protein 56; Required for the assembly of dynein arms. Belongs to the LRRC56 family. 9606.ENSP00000270139,IFNAR1,557,"Interferon alpha/beta receptor 1; Component of the receptor for type I interferons, including interferons alpha, IFNB1 and IFNW1. Functions in general as heterodimer with IFNAR2. Type I interferon binding activates the JAK-STAT signaling cascade, and triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and the IFNR alpha- and beta-subunits themselves. Can form an active IFNB1 receptor by itself and activate a signaling cascade that does not involve activation of the JAK-STAT pathway (By similarity)." 9606.ENSP00000270142,SOD1,154,Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems; Belongs to the Cu-Zn superoxide dismutase family. 9606.ENSP00000270162,SIK1,783,"Serine/threonine-protein kinase SIK1; Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1. Inhibits CREB activity by phosphorylating and inhibiting activity of TORCs, the CREB- specific coactivators, like CRTC2/TORC2 and CRTC3/TORC3 in response to cAMP signaling. Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: r [...] " 9606.ENSP00000270172,DNMT3L,387,DNA (cytosine-5)-methyltransferase 3-like; Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain. Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases. Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by [...] 9606.ENSP00000270176,SCYL1,808,N-terminal kinase-like protein; Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum. Involved in the maintenance of the Golgi apparatus morphology. Has no detectable kinase activity in vitro. 9606.ENSP00000270223,DMWD,674,"Dystrophia myotonica WD repeat-containing protein; DM1 locus, WD repeat containing." 9606.ENSP00000270225,SAE1,346,"SUMO-activating enzyme subunit 1, N-terminally processed; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2." 9606.ENSP00000270233,BCAM,628,Basal cell adhesion molecule; Laminin alpha-5 receptor. May mediate intracellular signaling. 9606.ENSP00000270235,NTN5,489,Netrin-5; Plays a role in neurogenesis. Prevents motor neuron cell body migration out of the neural tube. 9606.ENSP00000270238,LMTK3,1489,"Serine/threonine-protein kinase LMTK3; Protein kinase which phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. May also regulate ESR1 levels indirectly via a PKC-AKT-FOXO3 pathway where it decreases the activity of PKC and the phosphorylation of AKT, thereby increasing binding of transcriptional activator FOXO3 to the ESR1 promoter and increasing ESR1 transcription. Involved in endocytic trafficking of N-methyl-D-aspartate receptors (NMDAR) in neurons (By similarity)." 9606.ENSP00000270257,GEMIN7,131,"Gem-associated protein 7; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] " 9606.ENSP00000270310,FXYD7,80,FXYD domain containing ion transport regulator 7; Belongs to the FXYD family. 9606.ENSP00000270349,SLC6A3,620,Sodium-dependent dopamine transporter; Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals. 9606.ENSP00000270357,RNPEPL1,725,"Aminopeptidase RNPEPL1; Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine. Belongs to the peptidase M1 family." 9606.ENSP00000270458,CACNG8,425,"Voltage-dependent calcium channel gamma-8 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Belongs to the PMP-22/EMP/MP20 fami [...] " 9606.ENSP00000270502,TIMM29,260,"Mitochondrial import inner membrane translocase subunit Tim29; Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40." 9606.ENSP00000270509,FBN3,2809,"Fibrillin-3 C-terminal peptide; [Fibrillin-3]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin- containing microfibrils provide long-term force bearing structural support; Belongs to the fibrillin family." 9606.ENSP00000270517,ECSIT,431,"Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial; Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity); Belongs to the ECSIT family." 9606.ENSP00000270538,TIMM44,452,"Mitochondrial import inner membrane translocase subunit TIM44; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source. Belongs to the Tim44 family." 9606.ENSP00000270560,TM4SF5,197,"Transmembrane 4 L6 family member 5; Acts as a lysosomal membrane arginine sensor. Forms a complex with MTOR and SLC38A9 on lysosomal membranes in an arginine-regulated manner, leading to arginine efflux which enables the activation of mTORC1 which subsequently leads to RPS6KB1 and EIF4EBP1 phosphorylations. Facilitates cell cycle G1/S phase progression and the translocation of the CDK4- CCND1 complex into the nucleus. CDKN1B and RHOA/ROCK signaling activity are involved in TM4SF5-mediated acceleration of G1/S phase progression ; Belongs to the L6 tetraspanin family." 9606.ENSP00000270570,SLC47A1,570,"Multidrug and toxin extrusion protein 1; Solute transporter for tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes." 9606.ENSP00000270583,KLHDC4,520,Kelch domain containing 4. 9606.ENSP00000270586,PSMB6,239,"Proteasome subunit beta type-6; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000270590,GPR32,356,Probable G-protein coupled receptor 32; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000270593,ACP4,426,Testicular acid phosphatase; May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage. May play a role in odontogenesis. 9606.ENSP00000270625,RPS11,158,Ribosomal protein S11; Belongs to the universal ribosomal protein uS17 family. 9606.ENSP00000270631,PTH2,100,"Tuberoinfundibular peptide of 39 residues; Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits; Belongs to the parathyroid hormone family." 9606.ENSP00000270642,IGLON5,336,IgLON family member 5. 9606.ENSP00000270645,RCN3,328,"Reticulocalbin-3; Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum. Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant- associated protein D/SP-D and the lipid transporter ABCA3 (By similarity). By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis (By similarity). Has an anti-fibrotic activity by negatively r [...] " 9606.ENSP00000270649,ZNF614,585,Zinc finger protein 614; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000270708,WRAP73,460,"WD repeat-containing protein WRAP73; The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal bo [...] " 9606.ENSP00000270722,PRDM16,1276,Histone-lysine N-methyltransferase PRDM16; Binds DNA and functions as a transcriptional regulator. Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (By similarity). Likely to be one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic [...] 9606.ENSP00000270747,ARHGEF19,802,Rho guanine nucleotide exchange factor 19; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. 9606.ENSP00000270776,PGD,483,"6-phosphogluconate dehydrogenase, decarboxylating; Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH." 9606.ENSP00000270792,SH3BGRL3,93,SH3 domain-binding glutamic acid-rich-like protein 3; Could act as a modulator of glutaredoxin biological activity. 9606.ENSP00000270800,IL22RA1,574,"Interleukin-22 receptor subunit alpha-1; Component of the receptor for IL20, IL22 and IL24. Component of IL22 receptor formed by IL22RA1 and IL10RB enabling IL22 signaling via JAK/STAT pathways. IL22 also induces activation of MAPK1/MAPK3 and Akt kinases pathways. Component of one of the receptor for IL20 and IL24 formed by IL22RA1 and IL20RB also signaling through STATs activation. Mediates IL24 antiangiogenic activity as well as IL24 inhibitory effect on endothelial cell tube formation and differentiation." 9606.ENSP00000270824,EVA1B,165,Eva-1 homolog B; Belongs to the EVA1 family. 9606.ENSP00000270861,PLK4,970,"Serine/threonine-protein kinase PLK4; Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit [...] " 9606.ENSP00000270879,FCN3,299,"Ficolin-3; May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Has affinity with GalNAc, GlcNAc, D-fucose, as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota." 9606.ENSP00000271064,TINAGL1,467,Tubulointerstitial nephritis antigen-like; May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells. This is a non catalytic peptidase C1 family protein (By similarity). 9606.ENSP00000271139,MOB3C,268,MOB kinase activator 3C; May regulate the activity of kinases; Belongs to the MOB1/phocein family. 9606.ENSP00000271227,SLC44A3,653,Choline transporter-like protein 3; Solute carrier family 44 member 3. 9606.ENSP00000271234,FNBP1L,605,"Formin-binding protein 1-like; Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens; [...] " 9606.ENSP00000271277,CTTNBP2NL,639,CTTNBP2 N-terminal-like protein; CTTNBP2 N-terminal like. 9606.ENSP00000271308,PSMA5,241,"Proteasome subunit alpha type-5; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000271331,PROK1,105,"Prokineticin-1; Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. [...] " 9606.ENSP00000271332,CELSR2,2923,Cadherin EGF LAG seven-pass G-type receptor 2; Receptor that may have an important role in cell/cell signaling during nervous system formation; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. 9606.ENSP00000271373,MPC2,127,Mitochondrial pyruvate carrier 2; Mediates the uptake of pyruvate into mitochondria. 9606.ENSP00000271375,SFT2D2,160,Vesicle transport protein SFT2B; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family. 9606.ENSP00000271417,ILDR2,639,Immunoglobulin-like domain-containing receptor 2; May be involved in lipid homeostasis and ER stress pathways. Belongs to the immunoglobulin superfamily. LISCH7 family. 9606.ENSP00000271450,FCGR2A,317,Low affinity immunoglobulin gamma Fc region receptor II-a; Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens. 9606.ENSP00000271452,NUF2,464,"Kinetochore protein Nuf2; Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules." 9606.ENSP00000271469,UAP1,522,"UDP-N-acetylgalactosamine pyrophosphorylase; Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P." 9606.ENSP00000271526,PRCC,491,Proline-rich protein PRCC; May regulate cell cycle progression through interaction with MAD2L2. 9606.ENSP00000271532,FCRL4,515,Fc receptor-like protein 4; May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response. 9606.ENSP00000271555,MEF2D,521,"Myocyte-specific enhancer factor 2D; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity)." 9606.ENSP00000271588,HMCN1,5635,Hemicentin-1; Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration. 9606.ENSP00000271620,PRUNE1,453,"Exopolyphosphatase PRUNE1; Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis. Involved in the regulation of microtubule polymerization." 9606.ENSP00000271628,SF3B4,424,"Splicing factor 3B subunit 4; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well. Belongs also to the minor U12- dependent spliceosome, which is involved in the splicing of rare clas [...] " 9606.ENSP00000271636,CGN,1203,Cingulin; Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier; Belongs to the cingulin family. 9606.ENSP00000271638,S100A11,105,"Protein S100-A11, N-terminally processed; Facilitates the differentiation and the cornification of keratinocytes; Belongs to the S-100 family." 9606.ENSP00000271640,SETDB1,1291,"Histone-lysine N-methyltransferase SETDB1; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation. Required for HUSH- mediated heterochromatin formation and gene silencing. Forms a complex with MBD1 and ATF7IP that represse [...] " 9606.ENSP00000271651,CTSK,329,Cathepsin K; Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. Involved in the release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen. 9606.ENSP00000271688,CERS2,380,"Ceramide synthase 2; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very- long (C22:0-C24:0) chain as acyl donor." 9606.ENSP00000271715,POGZ,1410,Pogo transposable element with ZNF domain; Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms. 9606.ENSP00000271732,GOLPH3L,285,Golgi phosphoprotein 3-like; Phosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane. 9606.ENSP00000271751,KCNH1,989,"Potassium voltage-gated channel subfamily H member 1; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel. Channel properties are modulated by subunit assembly. Mediates IK(NI) current in myoblasts. Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs). Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily." 9606.ENSP00000271764,EIF2D,584,"Eukaryotic translation initiation factor 2D; Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P-site of the 40S subunit. In addition to its [...] " 9606.ENSP00000271835,CRNN,495,"Cornulin; Promotes cell proliferation, G1/S cell cycle progression and induces expression of the cell cycle regulator CCND1. Regulates proliferation induced by proinflammatory cytokine response via activation of NFKB1 and PI3K/AKT signaling pathways ; Belongs to the S100-fused protein family." 9606.ENSP00000271843,JTB,146,"Protein JTB; Required for normal cytokinesis during mitosis. Plays a role in the regulation of cell proliferation. May be a component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Increases AURKB activity. Inhibits apoptosis induced by TGFB1 (By similarity). Overexpression induces swelling of mitochondria and reduces mitochondrial membrane [...] " 9606.ENSP00000271857,SLC27A3,811,Solute carrier family 27 member 3; Has acyl-CoA ligase activity for long-chain and very-long- chain fatty acids. Does not exhibit fatty acid transport activity (By similarity). 9606.ENSP00000271889,CREB3L4,395,Processed cyclic AMP-responsive element-binding protein 3-like protein 4; Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5'-T[GT]ACGT[GA][GT]-3' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity). 9606.ENSP00000271971,CAPN9,690,Calpain-9; Calcium-regulated non-lysosomal thiol-protease; Belongs to the peptidase C2 family. 9606.ENSP00000272067,ACP1,158,"Low molecular weight phosphotyrosine protein phosphatase; Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity." 9606.ENSP00000272091,SDE2,451,"Replication stress response regulator SDE2; Involved in both DNA replication and cell cycle control. Unprocessed SDE2 interacts with PCNA via its PIP- box. The interaction with PCNA prevents monoubiquitination of the latter thereby inhibiting translesion DNA synthesis. The binding of SDE2 to PCNA also leads to processing of SDE2 by an unidentified deubiquitinating enzyme, cleaving off the N-terminal ubiquitin-like domain. The resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner. Binding of SDE2 to PCNA is necessary to counteract dam [...] " 9606.ENSP00000272133,CNIH3,160,"Protein cornichon homolog 3; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Belongs to the cornichon family." 9606.ENSP00000272134,LEFTY1,366,Left-right determination factor 1; Required for left-right axis determination as a regulator of LEFTY2 and NODAL. 9606.ENSP00000272139,C1orf35,263,Multiple myeloma tumor-associated protein 2; Chromosome 1 open reading frame 35. 9606.ENSP00000272164,WNT9A,365,"Protein Wnt-9a; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal timing of IHH expression during embryonic bone development, normal chondrocyte maturation and for normal bone mineralization during embryonic bone development. Plays a redundant role in maintaining joint integrity." 9606.ENSP00000272190,REN,406,"Renin; Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney." 9606.ENSP00000272203,PLEKHA6,1048,Pleckstrin homology domain containing A6. 9606.ENSP00000272217,ARL8A,186,"ADP-ribosylation factor-like protein 8A; Plays a role in lysosome motility (By similarity). In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). May play a role in chromosome segregation (By similarity); Belongs to the small GTPase superfamily. Arf family." 9606.ENSP00000272223,OSR1,266,Protein odd-skipped-related 1; Transcription factor that plays a role in the regulation of embryonic heart and urogenital development. 9606.ENSP00000272224,GDF7,450,Growth/differentiation factor 7; May play an active role in the motor area of the primate neocortex. 9606.ENSP00000272233,RHOB,196,Rho-related GTP-binding protein RhoB; Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascul [...] 9606.ENSP00000272238,ATP6V1C2,427,V-type proton ATPase subunit C 2; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000272252,GALM,342,"Aldose 1-epimerase; Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity)." 9606.ENSP00000272286,ABCG8,673,ATP-binding cassette sub-family G member 8; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG5 has ATPase activity. 9606.ENSP00000272317,RPS27A,156,"Ubiquitin-40S ribosomal protein S27a; [Ubiquitin]: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be i [...] " 9606.ENSP00000272321,WDPCP,746,WD repeat-containing and planar cell polarity effector protein fritz homolog; Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity). 9606.ENSP00000272322,VPS54,977,"Vacuolar protein sorting-associated protein 54; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling ; Belongs to the VPS54 family." 9606.ENSP00000272324,REG3G,175,"Regenerating islet-derived protein 3-gamma 16.5 kDa form; Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Restricts bacterial colonization of the intestinal epithelial surface and consequently limits activation of adaptive immune responses by the microbiota. The uncleaved form has bacteriostatic activity, whereas the cleaved form has bactericidal activity against L.monocytogenes and methicillin-resistant S.aureus. Regulates keratinocyte proliferation and [...] " 9606.ENSP00000272342,ETAA1,926,Ewing's tumor-associated antigen 1; Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity. Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1. Probably only regulates a subset of ATR targets. 9606.ENSP00000272367,CLEC4F,589,C-type lectin domain family 4 member F; Receptor with an affinity for galactose and fucose. Could be involved in endocytosis (By similarity). 9606.ENSP00000272369,MEIS1,390,"Homeobox protein Meis1; Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias." 9606.ENSP00000272371,OTOF,1997,Otoferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity). 9606.ENSP00000272395,TRIM43,446,Tripartite motif containing 43. 9606.ENSP00000272418,MRPS5,430,Mitochondrial ribosomal protein S5; Belongs to the universal ribosomal protein uS5 family. 9606.ENSP00000272425,NAT8,227,"N-acetyltransferase 8; Acetylates the free alpha-amino group of cysteine S- conjugates to form mercapturic acids. This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins [...] " 9606.ENSP00000272430,RTKN,563,Rhotekin; Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures. 9606.ENSP00000272433,SFXN5,340,Sideroflexin-5; Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria. Transports citrate (By similarity). 9606.ENSP00000272438,TEX261,196,Protein TEX261; Testis expressed 261. 9606.ENSP00000272444,DUSP11,377,"RNA/RNP complex-1-interacting phosphatase; Possesses RNA 5'-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000272452,SULT1C4,302,"Sulfotransferase 1C4; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF)." 9606.ENSP00000272462,MALL,153,"MAL-like protein; Mal, T cell differentiation protein like; Belongs to the MAL family." 9606.ENSP00000272519,RALB,206,"Ras-related protein Ral-B; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis. In l [...] " 9606.ENSP00000272520,C1QL2,287,Complement C1q-like protein 2; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). 9606.ENSP00000272542,SLC20A1,679,"Sodium-dependent phosphate transporter 1; Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification." 9606.ENSP00000272602,CNGA3,694,"Cyclic nucleotide-gated cation channel alpha-3; Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evok [...] " 9606.ENSP00000272638,UBXN4,508,UBX domain-containing protein 4; Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD. 9606.ENSP00000272641,NXPH2,264,Neurexophilin-2; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. Belongs to the neurexophilin family. 9606.ENSP00000272645,POLR2D,142,"DNA-directed RNA polymerase II subunit RPB4; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB4 is part of a subcomplex with RPB7 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems [...] " 9606.ENSP00000272647,AMMECR1L,310,AMMECR1-like protein; AMMECR1 like. 9606.ENSP00000272732,SCRN3,424,Secernin-3; Secernin 3. 9606.ENSP00000272771,TMEFF2,374,"Tomoregulin-2; May be a survival factor for hippocampal and mesencephalic neurons. The shedded form up-regulates cancer cell proliferation, probably by promoting ERK1/2 phosphorylation. Belongs to the tomoregulin family." 9606.ENSP00000272839,METTL21A,236,"Protein N-lysine methyltransferase METTL21A; Protein-lysine methyltransferase that selectively trimethylates residues in heat shock protein 70 (HSP70) family members. Contributes to the in vivo trimethylation of Lys residues in HSPA1 and HSPA8. In vitro methylates 'Lys-561' in HSPA1, 'Lys-564' in HSPA2, 'Lys-585' in HSPA5, 'Lys-563' in HSPA6 and 'Lys-561' in HSPA8." 9606.ENSP00000272847,PTH2R,550,Parathyroid hormone 2 receptor; This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. It may play a significant role in pancreatic function. PTH2R presence in neurons indicates that it may function as a neurotransmitter receptor (By similarity). 9606.ENSP00000272852,CPO,374,"Carboxypeptidase O; Carboxypeptidase which preferentially cleaves C-terminal acidic residues from peptides and proteins. Can also cleave C-terminal hydrophobic amino acids, with a preference for small residues over large residues." 9606.ENSP00000272895,ABCA12,2595,ATP-binding cassette sub-family A member 12; Probable transporter involved in lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family. 9606.ENSP00000272902,SUMF1,374,"Formylglycine-generating enzyme; Oxidase that catalyzes the conversion of cysteine to 3- oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent. 3- oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile. Known substrates include GALNS, ARSA, STS and ARSE. Belongs to the sulfatase-modifying factor family." 9606.ENSP00000272928,ACKR3,362,"Atypical chemokine receptor 3; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1. Chemokine binding does not activate G-protein- mediated signal transduction but instead induces beta-arrestin recruitment, lead [...] " 9606.ENSP00000272937,HES6,224,"Transcription cofactor HES-6; Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up- regulate transcription in its presence. Promotes cell differentiation (By similarity)." 9606.ENSP00000273047,RAB5A,215,"Ras-related protein Rab-5A; Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulati [...] " 9606.ENSP00000273062,CTDSP1,261,"Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1; Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells." 9606.ENSP00000273063,SLC4A3,1259,Anion exchange protein 3; Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-); Belongs to the anion exchanger (TC 2.A.31) family. 9606.ENSP00000273067,MARCHF4,410,"E3 ubiquitin-protein ligase MARCHF4; E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates." 9606.ENSP00000273077,PNKD,385,Probable hydrolase PNKD; Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. 9606.ENSP00000273130,DYNC1LI1,523,Cytoplasmic dynein 1 light intermediate chain 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkp [...] 9606.ENSP00000273153,CSRNP1,589,Cysteine/serine-rich nuclear protein 1; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May have a tumor- suppressor function. May play a role in apoptosis; Belongs to the AXUD1 family. 9606.ENSP00000273173,SLC22A14,594,Solute carrier family 22 member 14; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000273179,CTDSPL,276,"CTD small phosphatase-like protein; Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation." 9606.ENSP00000273183,STAC,402,"SH3 and cysteine-rich domain-containing protein; Promotes expression of the ion channel CACNA1H at the cell membrane, and thereby contributes to the regulation of channel activity. Plays a minor and redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C." 9606.ENSP00000273258,ARL6IP5,188,PRA1 family protein 3; Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity- dependent manner. May be involved in membrane traffic. 9606.ENSP00000273261,LRIG1,1093,"Leucine-rich repeats and immunoglobulin-like domains protein 1; Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation." 9606.ENSP00000273283,ITIH1,911,"Inter-alpha-trypsin inhibitor heavy chain H1; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes." 9606.ENSP00000273286,LRTM1,345,Leucine rich repeats and transmembrane domains 1. 9606.ENSP00000273308,CNPY2,182,Protein canopy homolog 2; Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent proteasomal degradation; Belongs to the canopy family. 9606.ENSP00000273317,LIMD1,676,"LIM domain-containing protein 1; Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing and is essential for P-body formation and integrity. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Acts [...] " 9606.ENSP00000273320,ZKSCAN7,754,Zinc finger protein with KRAB and SCAN domains 7; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000273347,NXPE3,559,NXPE family member 3; Neurexophilin and PC-esterase domain family member 3. 9606.ENSP00000273352,ADGRG7,797,Adhesion G-protein coupled receptor G7; Orphan receptor. 9606.ENSP00000273353,MYH15,1946,Myosin-15; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. 9606.ENSP00000273359,ABHD10,306,"Mycophenolic acid acyl-glucuronide esterase, mitochondrial; Catalyzes the deglucuronidation of mycophenolic acid acyl- glucuronide, a metabolite of the immunosuppressant drug mycophenolate. Belongs to the AB hydrolase superfamily." 9606.ENSP00000273371,PLA1A,456,"Phospholipase A1 member A; Hydrolyzes the ester bond at the sn-1 position of glycerophospholipids and produces 2-acyl lysophospholipids. Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1-acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI). Isoform 2 hydrolyzes lyso-PS but not PS. Hydrolysis of lyso-PS in peritoneal mast cells activated by receptors for IgE leads to stimulate histamine production. Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000273375,RABL3,236,"Rab-like protein 3; RAB, member of RAS oncogene family like 3; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000273390,MAATS1,767,Cilia- and flagella-associated protein 91; May play a role in spermatogenesis. May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). 9606.ENSP00000273395,BOC,1115,Brother of CDO; Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells. 9606.ENSP00000273398,ATP6V1A,617,"V-type proton ATPase catalytic subunit A; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. May play a role in neurite development and synaptic connectivity ; Belongs to the ATPase alpha/beta chains family." 9606.ENSP00000273450,ALDH1L1,912,Cytosolic 10-formyltetrahydrofolate dehydrogenase; Aldehyde dehydrogenase 1 family member L1; In the N-terminal section; belongs to the GART family. 9606.ENSP00000273480,RNF7,113,"RING-box protein 2; Probable component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (By similarity). Through the RING- type zinc finger, seems to recruit the E2 ubiquitination enzyme to the complex and brings it into close proximity to the substrat [...] " 9606.ENSP00000273541,ISY1,307,ISY1 splicing factor homolog. 9606.ENSP00000273550,FTH1,183,"Ferritin heavy chain, N-terminally processed; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). Belongs to the ferritin family." 9606.ENSP00000273588,AMT,403,"Aminomethyltransferase, mitochondrial; The glycine cleavage system catalyzes the degradation of glycine; Belongs to the GcvT family." 9606.ENSP00000273590,TCTA,103,T-cell leukemia translocation-altered gene protein; May be required for cellular fusion during osteoclastogenesis; Belongs to the TCTA family. 9606.ENSP00000273596,ABHD14A,271,Protein ABHD14A; Possible role in granule neuron development; Belongs to the AB hydrolase superfamily. ABHD14 family. 9606.ENSP00000273598,NICN1,213,Nicolin-1; Nicolin 1. 9606.ENSP00000273610,UCN2,112,"Urocortin-2; Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress; Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family." 9606.ENSP00000273666,STXBP5L,1186,"Syntaxin-binding protein 5-like; Plays a role in vesicle trafficking and exocytosis inhibition. In pancreatic beta-cells, inhibits insulin secretion probably by interacting with and regulating STX1A and STX4, key t-SNARE proteins involved in the fusion of insulin granules to the plasma membrane. Plays also a role in neurotransmitter release by inhibiting basal acetylcholine release from axon terminals and by preventing synaptic fatigue upon repetitive stimulation (By similarity). Promotes as well axonal outgrowth." 9606.ENSP00000273668,EAF2,260,ELL-associated factor 2; Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo. 9606.ENSP00000273695,TM4SF19,209,Transmembrane 4 L six family member 19; Belongs to the L6 tetraspanin family. 9606.ENSP00000273784,AHSG,368,"Alpha-2-HS-glycoprotein chain A; Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions; Belongs to the fetuin family." 9606.ENSP00000273814,DGKQ,942,Diacylglycerol kinase theta; Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). May regulate the activity of protein kinase C by controlling the balance between these two signaling lipids. Activated in the nucleus in response to alpha-thrombin and nerve growth factor (By similarity). May be involved in cAMP-induced activation of NR5A1 and subsequent steroidogenic gene transcription by delivering PA as ligand for NR5A1. Acts synergistically with NR5A1 on CYP17 transcriptional activity. 9606.ENSP00000273853,CENPC,943,"Centromere protein C; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions." 9606.ENSP00000273857,CORIN,1042,"Atrial natriuretic peptide-converting enzyme, activated protease fragment; Serine-type endopeptidase involved in atrial natriuretic peptide hormone (NPPA) processing. Converts through proteolytic cleavage the non-functional propeptide NPPA into the active hormone, thereby regulating blood pressure in heart and promoting natriuresis, diuresis and vasodilation. Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Also acts as a regulator of sodium reabsorption in kidney. May also process pro-NPPB [...] " 9606.ENSP00000273859,ATP10D,1426,Probable phospholipid-transporting ATPase VD; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. 9606.ENSP00000273861,SLC10A4,437,Sodium/bile acid cotransporter 4; Transporter for bile acids; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. 9606.ENSP00000273905,SLC10A6,377,"Solute carrier family 10 member 6; Transports sulfoconjugated steroid hormones, as well as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes in a sodium-dependent manner; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family." 9606.ENSP00000273920,ENOPH1,261,"Enolase-phosphatase E1; Bifunctional enzyme that catalyzes the enolization of 2,3- diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK- MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene)." 9606.ENSP00000273936,CABS1,395,"Calcium-binding and spermatid-specific protein 1; Calcium binding protein, spermatid associated 1." 9606.ENSP00000273962,TRMT10A,339,tRNA methyltransferase 10 homolog A; S-adenosyl-L-methionine-dependent guanine N(1)- methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs. Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs ; Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family. 9606.ENSP00000273963,KLHL8,620,Kelch-like protein 8; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN. 9606.ENSP00000273968,PYURF,114,"Protein preY, mitochondrial; PIGY upstream reading frame; Belongs to the PREY family." 9606.ENSP00000273986,CISD2,135,"CDGSH iron-sulfur domain-containing protein 2; Regulator of autophagy that contributes to antagonize BECN1- mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy. Belongs to the CISD protein family. CISD2 subfamily." 9606.ENSP00000274000,AP1AR,302,"AP-1 complex-associated regulatory protein; Necessary for adaptor protein complex 1 (AP-1)-dependent transport between the trans-Golgi network and endosomes. Regulates the membrane association of AP1G1/gamma1-adaptin, one of the subunits of the AP-1 adaptor complex. The direct interaction with AP1G1/gamma1- adaptin attenuates the release of the AP-1 complex from membranes. Regulates endosomal membrane traffic via association with AP-1 and KIF5B thus linking kinesin-based plus-end-directed microtubular transport to AP-1-dependent membrane traffic. May act as effector of AP-1 in calcium- [...] " 9606.ENSP00000274008,SPATA5,893,ATPase family protein 2 homolog; ATP-dependent chaperone which uses the energy provided by ATP hydrolysis to generate mechanical force to disassemble protein complexes. May be involved in morphological and functional mitochondrial transformations during spermatogenesis. 9606.ENSP00000274024,FABP2,132,"Fatty acid-binding protein, intestinal; FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family." 9606.ENSP00000274031,SETD7,366,"Histone-lysine N-methyltransferase SETD7; Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys- 1 [...] " 9606.ENSP00000274054,NAF1,494,"H/ACA ribonucleoprotein complex non-core subunit NAF1; RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4." 9606.ENSP00000274063,SFRP2,295,Secreted frizzled-related protein 2; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP2 may be important for eye retinal development and for myogenesis. 9606.ENSP00000274093,GLRA3,464,Glycine receptor subunit alpha-3; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability (By similarity). Contributes to the generation of inhibitory postsynaptic currents (By similarity). Contributes to increased pain perception in response to increased prostaglandin E2 levels (By similarity). Plays a role in cellular responses to [...] 9606.ENSP00000274137,NDUFS6,124,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000274140,MARCHF6,910,"E3 ubiquitin-protein ligase MARCHF6; E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation. Promotes ubiquitination of DIO2, leading to its degradation. Promotes ubiquitination of SQLE, leading to its degradation. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1." 9606.ENSP00000274181,ADAMTS16,1224,ADAM metallopeptidase with thrombospondin type 1 motif 16. 9606.ENSP00000274192,SRD5A1,259,3-oxo-5-alpha-steroid 4-dehydrogenase 1; Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3- oxosteroids. It plays a central role in sexual differentiation and androgen physiology. 9606.ENSP00000274217,OTULINL,356,Inactive ubiquitin thioesterase OTULINL; Lacks deubiquitinase activity; Belongs to the peptidase C65 family. Otulin subfamily. 9606.ENSP00000274242,RPL37,97,60S ribosomal protein L37; Binds to the 23S rRNA; Belongs to the eukaryotic ribosomal protein eL37 family. 9606.ENSP00000274255,SKP2,424,"S-phase kinase-associated protein 2; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. Specifically recognizes phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. Degradation of CDKN1B/p27kip also requires CKS1. Recognizes target proteins ORC1, CDT1, RBL2, KMT2A/MLL1, CDK9, RAG2, FOXO1, UBP43, and probably MYC, TOB1 and TAL1. Degradation of TA [...] " 9606.ENSP00000274276,OSMR,979,Oncostatin-M-specific receptor subunit beta; Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events; Belongs to the type I cytokine receptor family. Type 2 subfamily. 9606.ENSP00000274278,UGT3A1,523,UDP-glucuronosyltransferase 3A1; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity); Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000274289,PLK2,685,"Serine/threonine-protein kinase PLK2; Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CENPJ, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 an [...] " 9606.ENSP00000274306,GZMA,262,"Granzyme A; Abundant protease in the cytosolic granules of cytotoxic T- cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after 'Lys-189', which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA. Belongs to the peptidase S1 family. Granzym [...] " 9606.ENSP00000274311,PELO,385,"Protein pelota homolog; Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential). Belongs to the eukaryotic release factor 1 family. Pelota subfamily." 9606.ENSP00000274341,HAPLN1,354,Hyaluronan and proteoglycan link protein 1; Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix. 9606.ENSP00000274353,BHMT,406,"Betaine--homocysteine S-methyltransferase 1; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline." 9606.ENSP00000274361,ANKRD31,1873,"Ankyrin repeat domain-containing protein 31; Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes." 9606.ENSP00000274364,IQGAP2,1575,Ras GTPase-activating-like protein IQGAP2; Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin. 9606.ENSP00000274368,CRHBP,322,Corticotropin-releasing factor-binding protein; Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy; Belongs to the CRF-binding protein family. 9606.ENSP00000274376,RASA1,1047,Ras GTPase-activating protein 1; Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. 9606.ENSP00000274382,LIX1,282,Protein limb expression 1 homolog; Limb and CNS expressed 1; Belongs to the LIX1 family. 9606.ENSP00000274400,GTF2H2,395,"General transcription factor IIH subunit 2; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...] " 9606.ENSP00000274432,SPATA9,254,Spermatogenesis-associated protein 9; May play a role in testicular development/spermatogenesis and may be an important factor in male infertility. 9606.ENSP00000274457,FEM1C,617,"Protein fem-1 homolog C; Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit; Belongs to the fem-1 family." 9606.ENSP00000274458,COMMD10,202,COMM domain-containing protein 10; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF- kappa-B. 9606.ENSP00000274487,ADAMTS19,1213,ADAM metallopeptidase with thrombospondin type 1 motif 19. 9606.ENSP00000274496,YIPF5,257,Protein YIPF5; Plays a role in transport between endoplasmic reticulum and Golgi. 9606.ENSP00000274498,ARHGAP26,814,Rho GTPase-activating protein 26; GTPase-activating protein for RHOA and CDC42. 9606.ENSP00000274507,LECT2,151,Leukocyte cell-derived chemotaxin-2; Has a neutrophil chemotactic activity. Also a positive regulator of chondrocyte proliferation. Does not show metalloendopeptidase activity. Belongs to the LECT2/MIM-1 family. 9606.ENSP00000274520,IL9,144,Interleukin-9; Supports IL-2 independent and IL-4 independent growth of helper T-cells; Belongs to the IL-7/IL-9 family. 9606.ENSP00000274532,TIMD4,378,T-cell immunoglobulin and mucin domain-containing protein 4; Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Involved in regulating T-cell proliferation and lymphotoxin signaling. Ligand for HAVCR1/TIMD1 (By similarity). Belongs to the immunoglobulin superfamily. TIM family. 9606.ENSP00000274545,GABRA6,453,"Gamma-aminobutyric acid receptor subunit alpha-6; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000274547,GABRB2,512,"Gamma-aminobutyric acid receptor subunit beta-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By sim [...] " 9606.ENSP00000274565,SPINK7,85,Serine protease inhibitor Kazal-type 7; Probable serine protease inhibitor. 9606.ENSP00000274569,PCYOX1L,494,Prenylcysteine oxidase-like; Probable oxidoreductase. 9606.ENSP00000274605,N4BP3,544,"NEDD4-binding protein 3; Plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage; Belongs to the N4BP3 family." 9606.ENSP00000274606,NHP2,153,"H/ACA ribonucleoprotein complex subunit 2; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...] " 9606.ENSP00000274625,FGF18,207,"Fibroblast growth factor 18; Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation." 9606.ENSP00000274629,KCNMB1,191,"Calcium-activated potassium channel subunit beta-1; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its prese [...] " 9606.ENSP00000274643,MYLK4,388,Myosin light chain kinase family member 4. 9606.ENSP00000274673,FAM217A,508,Protein FAM217A; Family with sequence similarity 217 member A; Belongs to the FAM217 family. 9606.ENSP00000274695,CDKAL1,579,"Threonylcarbamoyladenosine tRNA methylthiotransferase; Catalyzes the methylthiolation of N6- threonylcarbamoyladenosine (t(6)A), leading to the formation of 2- methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. Belongs to the methylthiotransferase family. CDKAL1 subfamily." 9606.ENSP00000274710,PSD2,771,Pleckstrin and Sec7 domain containing 2. 9606.ENSP00000274711,LRRTM2,516,Leucine-rich repeat transmembrane neuronal protein 2; Involved in the development and maintenance of excitatory synapse in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B (By similarity). 9606.ENSP00000274712,ZMAT2,199,Zinc finger matrin-type protein 2; Involved in pre-mRNA splicing as a component of the spliceosome. 9606.ENSP00000274721,GFRA3,400,"GDNF family receptor alpha-3; Receptor for the glial cell line-derived neurotrophic factor, ARTN (artemin). Mediates the artemin-induced autophosphorylation and activation of the RET receptor tyrosine kinase." 9606.ENSP00000274764,H2BC1,127,"Histone H2B type 1-A; Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells (By similarity). Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as a nucleosome dissociating factor that creates a more dynamic chromatin, facilitating the large-scale exchange of histones (By similarity). Core component of nucleosome (By similarity). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template (By [...] " 9606.ENSP00000274766,KAAG1,84,Kidney associated antigen 1. 9606.ENSP00000274773,TRIM7,511,"E3 ubiquitin-protein ligase TRIM7; E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation. Belongs to the TRIM/RBCC family." 9606.ENSP00000274787,HIGD2A,106,"HIG1 domain family member 2A, mitochondrial; Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes." 9606.ENSP00000274793,PLA2G7,441,Platelet-activating factor acetylhydrolase; Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids. 9606.ENSP00000274811,RNF44,432,Ring finger protein 44. 9606.ENSP00000274813,MMUT,750,"Methylmalonyl-CoA mutase, mitochondrial; Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species; Belongs to the methylmalonyl-CoA mutase family." 9606.ENSP00000274849,ABT1,272,Activator of basal transcription 1; Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity); Belongs to the ESF2/ABP1 family. 9606.ENSP00000274938,SCUBE3,993,"Signal peptide, CUB and EGF-like domain-containing protein 3; Binds to TGFBR2 and activates TGFB signaling. In lung cancer cells, could serve as an endogenous autocrine and paracrine ligand of TGFBR2, which could regulate TGFBR2 signaling and hence modulate epithelial-mesenchymal transition and cancer progression." 9606.ENSP00000274963,FGD2,655,"FYVE, RhoGEF and PH domain-containing protein 2; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5- monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (By similarity)." 9606.ENSP00000274979,ANO7,933,"Anoctamin-7; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. May play a role in cell-cell interactions. Belongs to the anoctamin family." 9606.ENSP00000275015,NFKBIE,500,NF-kappa-B inhibitor epsilon; Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes. 9606.ENSP00000275016,CYP39A1,469,"24-hydroxycholesterol 7-alpha-hydroxylase; A cytochrome P450 monooxygenase involved in neural cholesterol clearance through bile acid synthesis. Catalyzes 7-alpha hydroxylation of (24S)- hydroxycholesterol, a neural oxysterol that is metabolized to bile acids in the liver. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase)." 9606.ENSP00000275034,PHIP,1821,PH-interacting protein; Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization. 9606.ENSP00000275053,MMS22L,1243,"Protein MMS22-like; Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double- strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA." 9606.ENSP00000275072,PM20D2,436,Peptidase M20 domain containing 2. 9606.ENSP00000275162,CLVS2,327,"Clavesin-2; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5- bisphosphate (PtdIns(3,5)P2)." 9606.ENSP00000275198,TAAR6,345,"Trace amine-associated receptor 6; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood." 9606.ENSP00000275200,TAAR8,342,"Trace amine-associated receptor 8; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood." 9606.ENSP00000275216,TAAR1,339,"Trace amine-associated receptor 1; Receptor for trace amines, including beta-phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained spe [...] " 9606.ENSP00000275227,SLC18B1,456,MFS-type transporter SLC18B1; Solute carrier family 18 member B1. 9606.ENSP00000275230,SLC2A12,617,"Solute carrier family 2, facilitated glucose transporter member 12; Insulin-independent facilitative glucose transporter. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily." 9606.ENSP00000275233,SHPRH,1683,"E3 ubiquitin-protein ligase SHPRH; E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to 'Lys-164' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly- ubiquitin chains linked through 'Lys-63'; Belongs to the SNF2/RAD54 helicase family." 9606.ENSP00000275300,SLC22A3,556,Solute carrier family 22 member 3; Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000275358,VWDE,1590,Von Willebrand factor D and EGF domains. 9606.ENSP00000275364,GNA12,381,Guanine nucleotide-binding protein subunit alpha-12; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins. Promotes tumor cell invasion and metastasis by activating RhoA/ROCK sign [...] 9606.ENSP00000275428,GGCT,188,Gamma-glutamylcyclotransferase; Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis; Belongs to the gamma-glutamylcyclotransferase family. 9606.ENSP00000275461,FERD3L,166,Fer3-like protein; Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity). 9606.ENSP00000275493,EGFR,1210,"Epidermal growth factor receptor; Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin- binding EGF. Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at leas [...] " 9606.ENSP00000275517,CDCA5,252,Sororin; Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair. Belongs to the sororin family. 9606.ENSP00000275525,IGFBP1,259,Insulin-like growth factor-binding protein 1; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration. 9606.ENSP00000275560,SSC4D,575,Scavenger receptor cysteine-rich domain-containing group B protein; Scavenger receptor cysteine rich family member with 4 domains. 9606.ENSP00000275603,CCT6A,531,"T-complex protein 1 subunit zeta; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. The TRiC complex plays a role in the folding of actin and tubulin (Probable); Belongs to the TCP-1 chaperonin family." 9606.ENSP00000275730,SLC12A9,914,"Solute carrier family 12 member 9; May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function." 9606.ENSP00000275732,GIGYF1,1035,GRB10-interacting GYF protein 1; May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1 (By similarity). 9606.ENSP00000275764,STRA8,330,"Stimulated by retinoic acid gene 8 protein homolog; Meiosis-inducer required for the transition into meiosis for both female and male germ cells. In female germ cells, required for premeiotic DNA replication and subsequent events in meiotic prophase. During spermatogenesis, next to its role in meiotic initiation, promotes (but is not required for) spermatogonial differentiation. Can associate with DNA (possibly in an indirect manner), and in vitro can activate DNA transcription (By similarity)." 9606.ENSP00000275766,ZC3HAV1L,300,"Zinc finger CCCH-type containing, antiviral 1 like." 9606.ENSP00000275767,TMEM140,185,Transmembrane protein 140. 9606.ENSP00000275815,EPHA1,976,"Ephrin type-A receptor 1; Receptor tyrosine kinase which binds promiscuously membrane- bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment [...] " 9606.ENSP00000275820,NOM1,860,Nucleolar MIF4G domain-containing protein 1; Plays a role in targeting PPP1CA to the nucleolus. 9606.ENSP00000275954,TMEM47,181,Transmembrane protein 47; Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity); Belongs to the TMEM47 family. 9606.ENSP00000276052,CDK16,570,"Cyclin-dependent kinase 16; Protein kinase that plays a role in vesicle-mediated transport processes and exocytosis. Regulates GH1 release by brain neurons. Phosphorylates NSF, and thereby regulates NSF oligomerization. Required for normal spermatogenesis. Regulates neuron differentiation and dendrite development (By similarity). Plays a role in the regulation of insulin secretion in response to changes in blood glucose levels. Can phosphorylate CCNY at 'Ser-336' (in vitro)." 9606.ENSP00000276055,CHST7,486,Carbohydrate sulfotransferase 7; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4 [...] 9606.ENSP00000276062,NDUFB11,163,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000276079,NONO,471,"Non-POU domain-containing octamer-binding protein; DNA- and RNA binding protein, involved in several nuclear processes. Binds the conventional octamer sequence in double-stranded DNA. Also binds single-stranded DNA and RNA at a site independent of the duplex site. Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. Together with PSPC1, required for the formation of nuclear paraspeckles. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclea [...] " 9606.ENSP00000276127,CPXCR1,301,CPX chromosome region candidate 1. 9606.ENSP00000276173,RIPPLY1,151,"Protein ripply1; Plays a role in somitogenesis. Essential for transcriptional repression of the segmental patterning genes, thus terminating the segmentation program in the presomitic mesoderm, and also required for the maintenance of rostrocaudal polarity in somites (By similarity). Belongs to the ripply family." 9606.ENSP00000276185,FRMPD3,1810,FERM and PDZ domain containing 3. 9606.ENSP00000276198,HTR2C,458,"5-hydroxytryptamine receptor 2C; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,- dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathway [...] " 9606.ENSP00000276201,UPF3B,483,Regulator of nonsense transcripts 3B; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-e [...] 9606.ENSP00000276202,DOCK11,2073,"Dedicator of cytokinesis protein 11; Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology. Facilitates filopodia formation through the activation of CDC42; Belongs to the DOCK family." 9606.ENSP00000276211,ARHGAP36,547,Rho GTPase-activating protein 36; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000276218,GPR119,335,Glucose-dependent insulinotropic receptor; Receptor for the endogenous fatty-acid ethanolamide oleoylethanolamide (OEA) and lysophosphatidylcholine (LPC). Functions as a glucose-dependent insulinotropic receptor. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Seems to act through a G(s) mediated pathway. 9606.ENSP00000276241,CT55,264,Cancer/testis antigen 55. 9606.ENSP00000276282,MFHAS1,1052,"Malignant fibrous histiocytoma-amplified sequence 1; Probable GTP-binding protein. Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways. Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor. Both inhibits and activates the TLR2-dependent s [...] " 9606.ENSP00000276297,DLC1,1528,"Rho GTPase-activating protein 7; Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality." 9606.ENSP00000276390,ATP6V1B2,511,"V-type proton ATPase subunit B, brain isoform; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the ATPase alpha/beta chains family." 9606.ENSP00000276410,CHRNA6,494,"Neuronal acetylcholine receptor subunit alpha-6; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-6/CHRNA6 sub- subfamily." 9606.ENSP00000276414,GNRH1,92,GnRH-associated peptide 1; Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. 9606.ENSP00000276416,BIN3,253,Bridging integrator 3; Involved in cytokinesis and septation where it has a role in the localization of F-actin. 9606.ENSP00000276420,DOK2,412,"Docking protein 2; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation (By similarity)." 9606.ENSP00000276431,TNFRSF10B,440,Tumor necrosis factor receptor superfamily member 10B; Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis. 9606.ENSP00000276440,DOCK5,1870,"Dedicator of cytokinesis protein 5; Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP (By similarity). Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen." 9606.ENSP00000276449,STAR,285,"Steroidogenic acute regulatory protein, mitochondrial; Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone." 9606.ENSP00000276480,ST18,1047,Suppression of tumorigenicity 18 protein; Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5'-AAAGTTT-3' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells. 9606.ENSP00000276533,GINS4,223,"DNA replication complex GINS protein SLD5, N-terminally processed; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS4 is important for GINS complex assembly. GINS complex seems to bind preferentially to single-stranded DNA." 9606.ENSP00000276569,ARMC1,282,Armadillo repeat containing 1. 9606.ENSP00000276570,DNAJC5B,199,DnaJ heat shock protein family member C5 beta. 9606.ENSP00000276571,CRH,196,"Corticoliberin; Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity)." 9606.ENSP00000276585,MRPS28,187,Mitochondrial ribosomal protein S28; Belongs to the bacterial ribosomal protein bS1 family. 9606.ENSP00000276590,LACTB2,288,Endoribonuclease LACTB2; Endoribonuclease; cleaves preferentially 3' to purine- pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3' -OH group. Has no activity with double- stranded RNA or DNA. Required for normal mitochondrial function and cell viability; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. 9606.ENSP00000276594,PRDM14,571,"PR domain zinc finger protein 14; Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of embryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression. Its association with CBFA2T2 is required for the functions in pluripotency and germ cell formation (By similarity). Directly up- regulates the e [...] " 9606.ENSP00000276603,TERF1,439,"Telomeric repeat-binding factor 1; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways." 9606.ENSP00000276616,PSKH2,385,Protein serine kinase H2. 9606.ENSP00000276651,DPYS,519,"Dihydropyrimidinase; Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate." 9606.ENSP00000276654,LRP12,859,"Low-density lipoprotein receptor-related protein 12; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor; Belongs to the LDLR family." 9606.ENSP00000276659,RSPO2,243,"R-spondin-2; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. During embryonic development, plays a crucial role in [...] " 9606.ENSP00000276689,NDUFB9,179,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000276692,TATDN1,297,Putative deoxyribonuclease TATDN1; Putative deoxyribonuclease; Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family. 9606.ENSP00000276704,C8orf76,380,Uncharacterized protein C8orf76; Chromosome 8 open reading frame 76. 9606.ENSP00000276708,GSDMC,508,Gasdermin-C; The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores. The physiological relevance of this observation is unknown (Probable). 9606.ENSP00000276816,ZNF16,682,"Zinc finger protein 16; Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Plays also a role as an inhibitor of cell apoptosis. Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000276893,UHRF2,802,"E3 ubiquitin-protein ligase UHRF2; E3 ubiquitin-protein ligase that is an intermolecular hub protein in the cell cycle network. Through cooperative DNA and histone binding, may contribute to a tighter epigenetic control of gene expression in differentiated cells. Ubiquitinates cyclins, CCND1 and CCNE1, in an apparently phosphorylation-independent manner and induces G1 arrest. Also ubiquitinates PCNP leading to its degradation by the proteasome. E3 SUMO-, but not ubiquitin-, protein ligase for ZNF131." 9606.ENSP00000276914,PLIN2,437,Perilipin-2; May be involved in development and maintenance of adipose tissue; Belongs to the perilipin family. 9606.ENSP00000276925,CDKN2B,138,Cyclin-dependent kinase 4 inhibitor B; Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. 9606.ENSP00000276927,IFNA1,189,"Interferon alpha-1/13; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000276943,IFNK,207,Interferon kappa; May play a role in the regulation of immune cell function. Cytokine that imparts cellular protection against viral infection in a species-specific manner. Activates the interferon-stimulated response element signaling pathway. It is able to directly modulate cytokine release from monocytes and dendritic cells. Binds heparin. 9606.ENSP00000277010,SIGMAR1,223,Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. [...] 9606.ENSP00000277120,NTRK2,838,"BDNF/NT-3 growth factors receptor; Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity (By similarity). Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2. Upon ligand- binding, undergoes homodimerization, autophosphorylation and acti [...] " 9606.ENSP00000277165,FAM120A,1118,Constitutive coactivator of PPAR-gamma-like protein 1; May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses. 9606.ENSP00000277216,OR13C4,318,Olfactory receptor 13C4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000277225,ZNF462,2506,"Zinc finger protein 462; Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization. Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG. By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation." 9606.ENSP00000277309,OR1K1,316,Olfactory receptor 1K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000277458,ASB6,421,Ankyrin repeat and SOCS box protein 6; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000277517,IDI2,227,"Isopentenyl-diphosphate delta-isomerase 2; Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP)." 9606.ENSP00000277526,LCN9,176,Epididymal-specific lipocalin-9; Lipocalin 9. 9606.ENSP00000277540,DPH7,452,"Diphthine methyltransferase; Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post- translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta)." 9606.ENSP00000277554,NACC2,587,"Nucleus accumbens-associated protein 2; Functions as a transcriptional repressor through its association with the NuRD complex. Recruits the NuRD complex to the promoter of MDM2, leading to the repression of MDM2 transcription and subsequent stability of p53/TP53." 9606.ENSP00000277570,PROSER2,435,Proline and serine rich 2. 9606.ENSP00000277575,USP6NL,845,USP6 N-terminal-like protein; Acts as a GTPase-activating protein for RAB5A and RAB43. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex. 9606.ENSP00000277632,MINDY3,445,Ubiquitin carboxyl-terminal hydrolase MINDY-3; Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins. 9606.ENSP00000277746,NRBF2,287,Nuclear receptor-binding factor 2; May modulate transcriptional activation by target nuclear receptors. Can act as transcriptional activator (in vitro). 9606.ENSP00000277865,GLUD1,558,"Glutamate dehydrogenase 1, mitochondrial; Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity)." 9606.ENSP00000277895,ABLIM1,778,Actin-binding LIM protein 1; May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance. 9606.ENSP00000277903,HABP2,560,Hyaluronan-binding protein 2 27 kDa light chain alternate form; Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII. May function as a tumor suppressor negatively regulating cell proliferation and c [...] 9606.ENSP00000277942,NPFFR1,430,"Neuropeptide FF receptor 1; Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system." 9606.ENSP00000278025,FUOM,154,"Fucose mutarotase; Involved in the interconversion between alpha- and beta-L- fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes." 9606.ENSP00000278060,PAOX,511,"Peroxisomal N(1)-acetyl-spermine/spermidine oxidase; Flavoenzyme which catalyzes the oxidation of N(1)- acetylspermine to spermidine and is thus involved in the polyamine back-conversion. Can also oxidize N(1)- acetylspermidine to putrescine. Substrate specificity: N(1)- acetylspermine = N(1)-acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs." 9606.ENSP00000278070,PPRC1,1664,Peroxisome proliferator-activated receptor gamma coactivator-related protein 1; Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes. 9606.ENSP00000278071,ITPRIP,547,"Inositol 1,4,5-trisphosphate receptor-interacting protein; Enhances Ca(2+)-mediated inhibition of inositol 1,4,5- triphosphate receptor (ITPR) Ca(2+) release." 9606.ENSP00000278193,LIN7C,197,"Protein lin-7 homolog C; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] " 9606.ENSP00000278198,LRRC4C,640,Leucine-rich repeat-containing protein 4C; May promote neurite outgrowth of developing thalamic neurons. 9606.ENSP00000278200,IMMP1L,166,"Mitochondrial inner membrane protease subunit 1; Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO." 9606.ENSP00000278222,SAA4,130,Serum amyloid A-4 protein; Major acute phase reactant. Apolipoprotein of the HDL complex; Belongs to the SAA family. 9606.ENSP00000278243,PGAP2,315,Post-GPI attachment to proteins factor 2; Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity); Belongs to the PGAP2 family. 9606.ENSP00000278282,SCGB1A1,91,"Uteroglobin; Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2." 9606.ENSP00000278314,ZNF214,606,Zinc finger protein 214; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000278319,ZNF215,517,Zinc finger protein 215; May be involved in transcriptional regulation. 9606.ENSP00000278353,HSD17B12,312,"Very-long-chain 3-oxoacyl-CoA reductase; Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3- hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membra [...] " 9606.ENSP00000278379,SLC1A2,574,"Excitatory amino acid transporter 2; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminatin [...] " 9606.ENSP00000278407,SERPING1,500,"Plasma protease C1 inhibitor; Activation of the C1 complex is under control of the C1- inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein." 9606.ENSP00000278409,OR5F1,314,Olfactory receptor 5F1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000278412,SSRP1,709,"FACT complex subunit SSRP1; Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment o [...] " 9606.ENSP00000278422,TMX2,296,Thioredoxin related transmembrane protein 2. 9606.ENSP00000278426,SLC43A1,559,"Large neutral amino acids transporter small subunit 3; Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer." 9606.ENSP00000278483,HIKESHI,197,Protein Hikeshi; Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin- dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus; Belongs to the OPI10 family. 9606.ENSP00000278505,ENDOD1,500,Endonuclease domain-containing 1 protein; May act as a DNase and a RNase; Belongs to the DNA/RNA non-specific endonuclease family. 9606.ENSP00000278550,TENM4,2769,"Teneurin-4; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity); Belongs to the tenascin family. Teneurin subfamily." 9606.ENSP00000278568,PAK1,553,"Serine/threonine-protein kinase PAK 1; Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes. Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby media [...] " 9606.ENSP00000278572,RPS3,259,"40S ribosomal protein S3; Involved in translation as a component of the 40S small ribosomal subunit. Has endonuclease activity and plays a role in repair of damaged DNA. Cleaves phosphodiester bonds of DNAs containing altered bases with broad specificity and cleaves supercoiled DNA more efficiently than relaxed DNA. Displays high binding affinity for 7,8-dihydro- 8-oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species (ROS). Has also been shown to bind with similar affinity to intact and damaged DNA. Stimulates the N-glycosylase activity of the base excision protei [...] " 9606.ENSP00000278590,ZC3H12C,883,Probable ribonuclease ZC3H12C; May function as RNase and regulate the levels of target RNA species; Belongs to the ZC3H12 family. 9606.ENSP00000278601,C11orf52,123,Uncharacterized protein C11orf52; Chromosome 11 open reading frame 52. 9606.ENSP00000278612,NPAT,1427,"Protein NPAT; Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters. Belongs to the NPAT family." 9606.ENSP00000278616,ATM,3056,"Serine-protein kinase ATM; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]- Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospec [...] " 9606.ENSP00000278618,AASDHPPT,309,"L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN." 9606.ENSP00000278671,LAMTOR1,161,"Ragulator complex protein LAMTOR1; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V- ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulat [...] " 9606.ENSP00000278742,ST14,855,Suppressor of tumorigenicity 14 protein; Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing. 9606.ENSP00000278780,OVOL2,275,"Transcription factor Ovo-like 2; Zinc-finger transcription repressor factor. Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1. Important for the correct development of primordial germ cells in embryos (By similarity)." 9606.ENSP00000278823,MTA2,668,Metastasis-associated protein MTA2; May be involved in the regulation of gene expression as repressor and activator. The repression might be related to covalent modification of histone proteins. 9606.ENSP00000278826,TMEM138,162,Transmembrane protein 138; Required for ciliogenesis. 9606.ENSP00000278829,FADS3,445,"Fatty acid desaturase 3; Acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain. Desaturates (11E)-octadecenoate (trans-vaccenoate) at carbon 13 to generate (11E,13Z)-octadecadienoate, likely participating in the biohydrogenation pathway of linoleic acid (LA) (18:2n-6)." 9606.ENSP00000278833,ROM1,351,Rod outer segment membrane protein 1; Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity). 9606.ENSP00000278836,MYRF,1151,"Myelin regulatory factor, C-terminal; [Myelin regulatory factor]: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes. [Myelin regulatory factor, N-terminal]: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifi [...] " 9606.ENSP00000278840,FADS2,444,"Acyl-CoA 6-desaturase; Acts as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively. Subsequently, in the biosynthetic pathway of HUFA [...] " 9606.ENSP00000278853,ZP1,638,"Processed zona pellucida sperm-binding protein 1; Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida." 9606.ENSP00000278855,OOSP2,158,Oocyte secreted protein 2. 9606.ENSP00000278865,MS4A3,214,Membrane-spanning 4-domains subfamily A member 3; Hematopoietic modulator for the G1-S cell cycle transition. Modulates the level of phosphorylation of cyclin-dependent kinase 2 (CDK2) through its direct binding to cyclin-dependent kinase inhibitor 3 (CDKN3/KAP); Belongs to the MS4A family. 9606.ENSP00000278886,NINL,1382,"Ninein-like protein; Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis." 9606.ENSP00000278888,MS4A2,244,"High affinity immunoglobulin epsilon receptor subunit beta; High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor- bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy; Belongs to the MS4A family." 9606.ENSP00000278903,EI24,340,Etoposide-induced protein 2.4 homolog; Acts as a negative growth regulator via p53-mediated apoptosis pathway. Regulates formation of degradative autolysosomes during autophagy (By similarity); Belongs to the EI24 family. 9606.ENSP00000278927,ESAM,390,Endothelial cell-selective adhesion molecule; Can mediate aggregation most likely through a homophilic molecular interaction. 9606.ENSP00000278935,CEP164,1460,"Centrosomal protein of 164 kDa; Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1." 9606.ENSP00000278937,MPZL2,215,Myelin protein zero-like protein 2; Mediates homophilic cell-cell adhesion. 9606.ENSP00000278947,SCN2B,215,"Sodium channel subunit beta-2; Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity); Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family." 9606.ENSP00000278949,MPZL3,235,Myelin protein zero-like protein 3; Mediates homophilic cell-cell adhesion; Belongs to the myelin P0 protein family. 9606.ENSP00000278979,DUSP15,295,"Dual specificity protein phosphatase 15; May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6 ; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000278980,COMMD7,200,COMM domain-containing protein 7; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Associates with the NF-kappa-B complex and suppresses its transcriptional activity. 9606.ENSP00000279022,MYL9,172,"Myosin regulatory light polypeptide 9; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion." 9606.ENSP00000279024,KIAA1755,1200,Uncharacterized protein KIAA1755; KIAA1755. 9606.ENSP00000279027,SLC13A3,602,"Solute carrier family 13 member 3; High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-6 carbon atoms, including succinate, alpha-ketoglutarate and N-acetylaspartate. The stoichiometry is probably 3 Na(+) for 1 divalent succinate." 9606.ENSP00000279028,OCSTAMP,566,Osteoclast stimulatory transmembrane protein; Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation (By similarity). 9606.ENSP00000279036,PIGT,578,"GPI transamidase component PIG-T; Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates." 9606.ENSP00000279058,SPINT4,99,"Serine peptidase inhibitor, Kunitz type 4." 9606.ENSP00000279068,LSM14B,385,Protein LSM14 homolog B; May play a role in control of mRNA translation. 9606.ENSP00000279101,CABLES2,478,CDK5 and ABL1 enzyme substrate 2; Unknown. Probably involved in G1-S cell cycle transition; Belongs to the cyclin family. 9606.ENSP00000279146,AIP,330,"AH receptor-interacting protein; May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting." 9606.ENSP00000279147,LTO1,137,Protein LTO1 homolog; The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery. May be required for biogenesis of the large ribosomal subunit and initiation of translation. May play a role in the regulation of proline metabolism and ROS production. 9606.ENSP00000279168,GPHA2,129,"Glycoprotein hormone alpha-2; Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism. Belongs to the glycoprotein hormones subunit alpha family." 9606.ENSP00000279178,SLC22A9,553,"Solute carrier family 22 member 9; Sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones. It is also specifically activated by 3 to 5 carbons- containing short-chain fatty acids/SCFAs, including propionate, butyrate and valerate. May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs at the sinusoidal membrane of hepatocytes; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family." 9606.ENSP00000279206,NUDT22,303,Uridine diphosphate glucose pyrophosphatase NUDT22; Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and UDP-galactose to galactose 1-phosphate and UMP. Preferred substrate is UDP-glucose; Belongs to the Nudix hydrolase family. 9606.ENSP00000279227,FERMT3,667,"Fermitin family homolog 3; Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity). Belongs to the kindlin family." 9606.ENSP00000279242,MRPL49,166,Mitochondrial ribosomal protein L49. 9606.ENSP00000279249,CDC42EP2,210,Cdc42 effector protein 2; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner. Belongs to the BORG/CEP family. 9606.ENSP00000279263,TM7SF2,418,"Delta(14)-sterol reductase TM7SF2; Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis." 9606.ENSP00000279281,VPS51,782,"Vacuolar protein sorting-associated protein 51 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome- derived carriers to the TGN. Acts as component of the EARP complex [...] " 9606.ENSP00000279387,PPP4C,307,"Serine/threonine-protein phosphatase 4 catalytic subunit; Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2- PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphor [...] " 9606.ENSP00000279392,HIRIP3,556,HIRA-interacting protein 3; May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones. 9606.ENSP00000279441,MMP10,476,"Stromelysin-2; Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase; Belongs to the peptidase M10A family." 9606.ENSP00000279488,DUSP6,381,"Dual specificity protein phosphatase 6; Inactivates MAP kinases. Has a specificity for the ERK family. Plays an important role in alleviating chronic postoperative pain. Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (By similarity). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (By similarity). Promotes cell differentiation by regulating MAPK1/ [...] " 9606.ENSP00000279575,PRB4,247,Basic salivary proline-rich protein 4; Proline rich protein BstNI subfamily 4. 9606.ENSP00000279783,OR8K1,319,Olfactory receptor 8K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000279791,OR5M9,310,Olfactory receptor 5M9; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000279804,CTF1,201,Cardiotrophin-1; Induces cardiac myocyte hypertrophy in vitro. Binds to and activates the ILST/gp130 receptor. 9606.ENSP00000279873,ARID5B,1188,"AT-rich interactive domain-containing protein 5B; Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride m [...] " 9606.ENSP00000279907,UHRF1BP1L,1464,UHRF1-binding protein 1-like; UHRF1 binding protein 1 like. 9606.ENSP00000280020,KIAA1328,577,Protein hinderin; Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes. 9606.ENSP00000280057,FAM124A,582,Protein FAM124A; Family with sequence similarity 124 member A; Belongs to the FAM124 family. 9606.ENSP00000280097,HNMT,292,Histamine N-methyltransferase; Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine. 9606.ENSP00000280098,SPOPL,392,"Speckle-type POZ protein-like; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, but with relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL are less efficient than ubiquitin ligase complexes containing only SPOP. May function to down-regulate the activity of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin- protein ligase complexes [...] " 9606.ENSP00000280154,PDCD4,469,"Programmed cell death protein 4; Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity). Belongs to the PDCD4 family." 9606.ENSP00000280155,ADRA2A,465,"Alpha-2A adrenergic receptor; Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p- octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol." 9606.ENSP00000280187,GPM6A,278,"Neuronal membrane glycoprotein M6-a; Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization and re [...] " 9606.ENSP00000280190,WDR17,1322,WD repeat domain 17. 9606.ENSP00000280191,SPATA4,305,Spermatogenesis-associated protein 4; May play a role in apoptosis regulation. 9606.ENSP00000280236,FSIP1,581,Fibrous sheath interacting protein 1; Belongs to the FSIP1 family. 9606.ENSP00000280245,CCDC83,444,Coiled-coil domain containing 83. 9606.ENSP00000280258,PRSS23,383,Serine protease 23; Belongs to the peptidase S1 family. 9606.ENSP00000280295,PPP1R1C,116,Protein phosphatase 1 regulatory subunit 1C; May increase cell susceptibility to TNF-induced apoptosis. 9606.ENSP00000280326,CCT5,541,"T-complex protein 1 subunit epsilon; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000280346,DLAT,647,"Pyruvate dehydrogenase E2 component (dihydrolipoamide acetyltransferase); The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle." 9606.ENSP00000280350,PIH1D2,315,PIH1 domain containing 2. 9606.ENSP00000280357,IL18,193,"Interleukin-18; A proinflammatory cytokine primarily involved in polarized T- helper 1 (Th1) cell and natural killer (NK) cell immune responses (Probable). Upon binding to IL18R1 and IL18RAP, forms a signaling ternary complex which activates NF-kappa-B, triggering synthesis of inflammatory mediators. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells and natural killer (NK) cells (Probable). Belongs to the IL-1 family." 9606.ENSP00000280358,TEX12,123,Testis-expressed protein 12; Testis expressed 12. 9606.ENSP00000280362,PTS,145,"6-pyruvoyl tetrahydrobiopterin synthase; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin; Belongs to the PTPS family." 9606.ENSP00000280377,USP15,981,"Ubiquitin carboxyl-terminal hydrolase 15; Hydrolase that removes conjugated ubiquitin from target proteins and regulates various pathways such as the TGF-beta receptor signaling, NF-kappa-B and RNF41/NRDP1-PRKN pathways. Acts as a key regulator of TGF-beta receptor signaling pathway, but the precise mechanism is still unclear: according to a report, acts by promoting deubiquitination of monoubiquitinated R-SMADs (SMAD1, SMAD2 and/or SMAD3), thereby alleviating inhibition of R-SMADs and promoting activation of TGF-beta target genes. According to another reports, regulates the TGF-beta r [...] " 9606.ENSP00000280481,FREM2,3169,FRAS1-related extracellular matrix protein 2; Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. Required for epidermal adhesion. Involved in the development of eyelids and the anterior segment of the eyeballs. Belongs to the FRAS1 family. 9606.ENSP00000280527,CRIM1,1036,Processed cysteine-rich motor neuron 1 protein; May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface. 9606.ENSP00000280551,SEC24D,1032,"Protein transport protein Sec24D; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B. May more specifically package GPI-anchored proteins through the cargo receptor [...] " 9606.ENSP00000280557,DENR,198,Density-regulated protein; May be involved in the translation of target mRNAs by scanning and recognition of the initiation codon. Involved in translation initiation; promotes recruitmnet of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role in the modulation of the translational profile of a subset of cancer-related mRNAs when recruited to the translational initiation complex by the oncogene MCTS1. 9606.ENSP00000280571,RILPL2,211,"RILP-like protein 2; Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). May function via activation of RAC1 and PAK1 (By similarity)." 9606.ENSP00000280605,TKTL2,626,"Transketolase-like protein 2; Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis; Belongs to the transketolase family." 9606.ENSP00000280606,PRSS53,553,Serine protease 53; In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator. 9606.ENSP00000280612,SLC7A11,501,"Cystine/glutamate transporter; Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family." 9606.ENSP00000280614,NOCT,431,"Nocturnin; Phosphatase which catalyzes the conversion of NADP(+) to NAD(+) and of NADPH to NADH. Shows a small preference for NADPH over NADP(+). Represses translation and promotes degradation of target mRNA molecules. Plays an important role in post-transcriptional regulation of metabolic genes under circadian control (By similarity). Exerts a rhythmic post- transcriptional control of genes necessary for metabolic functions including nutrient absorption, glucose/insulin sensitivity, lipid metabolism, adipogenesis, inflammation and osteogenesis (By similarity). Plays an important role [...] " 9606.ENSP00000280665,DCP1B,617,"mRNA-decapping enzyme 1B; May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7- methyl guanine cap structure from mRNA molecules, yielding a 5'- phosphorylated mRNA fragment and 7m-GDP (By similarity)." 9606.ENSP00000280684,KCNA6,529,"Potassium voltage-gated channel subfamily A member 6; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as well [...] " 9606.ENSP00000280700,NGLY1,654,"Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins [...] " 9606.ENSP00000280701,OXSM,459,"3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial; May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family." 9606.ENSP00000280706,LDHAL6A,332,"L-lactate dehydrogenase A-like 6A; Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed." 9606.ENSP00000280734,TMEM86A,240,Lysoplasmalogenase-like protein TMEM86A; Transmembrane protein 86A. 9606.ENSP00000280758,BTBD11,1104,Ankyrin repeat and BTB/POZ domain-containing protein BTBD11; BTB domain containing 11. 9606.ENSP00000280772,ANK3,4377,"Ankyrin-3; In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption." 9606.ENSP00000280800,PLBD2,589,Putative phospholipase B-like 2 32 kDa form; Putative phospholipase. 9606.ENSP00000280871,SLC2A13,648,Proton myo-inositol cotransporter; H(+)-myo-inositol cotransporter. Can also transport related stereoisomers. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. 9606.ENSP00000280886,DIP2C,1556,Disco interacting protein 2 homolog C. 9606.ENSP00000280904,DSC2,901,Desmocollin-2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. 9606.ENSP00000280979,AKAP6,2319,A-kinase anchor protein 6; Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes. 9606.ENSP00000280987,FAM177A1,236,Protein FAM177A1; Family with sequence similarity 177 member A1. 9606.ENSP00000281030,THRSP,146,"Thyroid hormone-inducible hepatic protein; Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB." 9606.ENSP00000281031,NDUFC2,119,"NADH dehydrogenase [ubiquinone] 1 subunit C2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000281038,NARS2,477,"Probable asparagine--tRNA ligase, mitochondrial; asparaginyl-tRNA synthetase 2, mitochondrial; Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000281043,MYCN,464,N-myc proto-oncogene protein; Positively regulates the transcription of MYCNOS in neuroblastoma cells. 9606.ENSP00000281047,MSGN1,193,"Mesogenin-1; Involved in specifying the paraxial, but not dorsal, mesoderm. May regulate the expression of T-box transcription factors required for mesoderm formation and differentiation (By similarity)." 9606.ENSP00000281081,NUBPL,319,Iron-sulfur protein NUBPL; Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits. 9606.ENSP00000281092,FER,822,"Tyrosine-protein kinase Fer; Tyrosine-protein kinase that acts downstream of cell surface receptors for growth factors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, lamellipodia formation, cell adhesion, cell migration and chemotaxis. Acts downstream of EGFR, KIT, PDGFRA and PDGFRB. Acts downstream of EGFR to promote activation of NF- kappa-B and cell proliferation. May play a role in the regulation of the mitotic cell cycle. Plays a role in the insulin receptor signaling pathway and in activation of phosphatidylinositol 3-kinase. Acts downstream o [...] " 9606.ENSP00000281141,CDC123,336,Cell division cycle protein 123 homolog; Required for S phase entry of the cell cycle. 9606.ENSP00000281142,SCLT1,688,"Sodium channel and clathrin linker 1; Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity)." 9606.ENSP00000281146,C4orf33,199,UPF0462 protein C4orf33; Chromosome 4 open reading frame 33. 9606.ENSP00000281154,SLC25A31,315,"ADP/ATP translocase 4; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May serve to mediate energy generating and energy consuming processes in the distal flagellum, possibly as a nucleotide shuttle between flagellar glycolysis, protein phosphorylation and mechanisms of motility. Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000281156,KHDRBS2,349,"KH domain-containing, RNA-binding, signal transduction-associated protein 2; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre- mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexi [...] " 9606.ENSP00000281171,PTPRO,1216,Receptor-type tyrosine-protein phosphatase O; Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity). Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily. 9606.ENSP00000281182,ACAD8,415,"Isobutyryl-CoA dehydrogenase, mitochondrial; Isobutyryl-CoA dehydrogenase which catalyzes one of the steps of the valine catabolic pathway. To a lesser extent, is also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA." 9606.ENSP00000281187,VPS26B,336,Vacuolar protein sorting-associated protein 26B; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans- Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for car [...] 9606.ENSP00000281243,QDPR,244,"Dihydropteridine reductase; The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases; Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000281282,CGNL1,1302,"Cingulin-like protein 1; May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons." 9606.ENSP00000281321,POU4F2,409,"POU domain, class 4, transcription factor 2; Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells. Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner. Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooper [...] " 9606.ENSP00000281382,PIGF,219,Phosphatidylinositol-glycan biosynthesis class F protein; Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI. 9606.ENSP00000281419,ASAP2,1006,"Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2; Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration." 9606.ENSP00000281437,BARX2,279,Homeobox protein BarH-like 2; Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity). 9606.ENSP00000281441,TMEM45B,275,Transmembrane protein 45B. 9606.ENSP00000281453,CENPU,418,"Centromere protein U; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Plays an important role in the correct PLK1 localization to the mitotic kinetochores. A scaffold protein responsible for the initial recruitment and maintenance of the kinetochore PLK1 population until its degradation. Involved in tra [...] " 9606.ENSP00000281456,SLC25A4,298,ADP/ATP translocase 1; Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. 9606.ENSP00000281471,AMN1,258,Protein AMN1 homolog; Antagonist of mitotic exit network 1 homolog. 9606.ENSP00000281513,NBAS,2371,Neuroblastoma-amplified sequence; Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. 9606.ENSP00000281523,ZNF385D,395,Zinc finger protein 385D. 9606.ENSP00000281543,GUF1,669,"Translation factor GUF1, mitochondrial; Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily." 9606.ENSP00000281589,PABPC3,631,Polyadenylate-binding protein 3; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Binds poly(A) with a slightly lower affinity as compared to PABPC1. 9606.ENSP00000281623,FBXO4,387,F-box only protein 4; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1. 9606.ENSP00000281631,PARP8,854,Protein mono-ADP-ribosyltransferase PARP8; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins. 9606.ENSP00000281701,NVL,856,"Nuclear valosin-containing protein-like; Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT. Involved in both early and late stages of the pre- rRNA processing pathways. Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus. Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity." 9606.ENSP00000281703,GLT1D1,266,Glycosyltransferase 1 domain containing 1; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. 9606.ENSP00000281722,RBM46,533,RNA binding motif protein 46. 9606.ENSP00000281741,TXNDC16,825,Thioredoxin domain containing 16. 9606.ENSP00000281772,KANSL1L,987,KAT8 regulatory NSL complex subunit 1 like. 9606.ENSP00000281806,MCHR2,340,"Melanin-concentrating hormone receptor 2; Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis." 9606.ENSP00000281821,EPHA4,986,"Ephrin type-A receptor 4; Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI- anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. U [...] " 9606.ENSP00000281828,FARSB,589,phenylalanyl-tRNA synthetase subunit beta; Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily. 9606.ENSP00000281830,KCNE4,221,Potassium voltage-gated channel subfamily E member 4; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. May associate with KCNQ1/KVLTQ1 and inhibit potassium current; Belongs to the potassium channel KCNE family. 9606.ENSP00000281834,TNFSF4,183,Tumor necrosis factor ligand superfamily member 4; Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production. 9606.ENSP00000281882,CFC1B,223,"Cripto, FRL-1, cryptic family 1B." 9606.ENSP00000281923,MGAT5,741,"Secreted alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A; Catalyzes the addition of N-acetylglucosamine (GlcNAc) in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides. Catalyzes an important step in the biosynthesis of branched, complex-type N-glycans, such as those found on EGFR, TGFR (TGF-beta receptor) and CDH2. Via its role in the biosynthesis of complex N-glycans, plays an important role in the activation of cellular signaling pathways, reorganization of the actin cytoskeleton, cell-cell adhesion and cell migration. MGAT5- [...] " 9606.ENSP00000281924,TMEM163,289,Transmembrane protein 163; May bind zinc and other divalent cations and recruit them to vesicular organelles. 9606.ENSP00000281928,MED13L,2210,"Mediator of RNA polymerase II transcription subunit 13-like; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may sp [...] " 9606.ENSP00000281938,HSPB8,196,Heat shock protein beta-8; Displays temperature-dependent chaperone activity; Belongs to the small heat shock protein (HSP20) family. 9606.ENSP00000281950,GEMIN6,167,"Gem-associated protein 6; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] " 9606.ENSP00000281961,TMEM178A,297,"Transmembrane protein 178A; Acts as a negative regulator of osteoclast differentiation in basal and inflammatory conditions by regulating TNFSF11-induced Ca (2+) fluxes, thereby controlling the induction of NFATC1. Belongs to the TMEM178 family." 9606.ENSP00000282003,OBI1,726,ORC ubiquitin ligase 1; E3 ubiquitin ligase essential for DNA replication origin activation during S phase. Acts as a replication origin selector which selects the origins to be fired and catalyzes the multi-mono-ubiquitination of a subset of chromatin-bound ORC3 and ORC5 during S-phase. 9606.ENSP00000282018,CYSLTR2,346,"Cysteinyl leukotriene receptor 2; Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4." 9606.ENSP00000282020,GRID2,1007,"Glutamate receptor ionotropic, delta-2; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber- Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex ; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 sub [...] " 9606.ENSP00000282026,ARL11,196,ADP-ribosylation factor-like protein 11; May play a role in apoptosis. May act as a tumor suppressor. Belongs to the small GTPase superfamily. Arf family. 9606.ENSP00000282032,ARL14EP,260,"ARL14 effector protein; Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells." 9606.ENSP00000282041,EPG5,2579,"Ectopic P granules protein 5 homolog; Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located." 9606.ENSP00000282058,HAUS1,278,"HAUS augmin-like complex subunit 1; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex." 9606.ENSP00000282074,SPC25,224,"Kinetochore protein Spc25; Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules. Belongs to the SPC25 family." 9606.ENSP00000282096,PDE3B,1112,"cGMP-inhibited 3',5'-cyclic phosphodiesterase B; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. May play a role in fat metabolism. Regulates cAMP binding of RAPGEF3. Through simultaneous binding to RAPGEF3 and PIK3R6 assembles a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis." 9606.ENSP00000282111,TCF7L1,588,"Transcription factor 7-like 1; Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance." 9606.ENSP00000282141,CRYGC,174,Gamma-crystallin C; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000282146,KCNK13,408,Potassium channel subfamily K member 13; Potassium channel displaying weak inward rectification in symmetrical K(+) solution; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. 9606.ENSP00000282185,ATG10,220,Ubiquitin-like-conjugating enzyme ATG10; E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3 (By similarity). Plays a role in adenovirus-mediated cell lysis. Belongs to the ATG10 family. 9606.ENSP00000282226,FAM151B,276,Protein FAM151B; Family with sequence similarity 151 member B. 9606.ENSP00000282249,GUCY1A2,763,Guanylate cyclase soluble subunit alpha-2; Has guanylyl cyclase on binding to the beta-1 subunit. 9606.ENSP00000282251,CWF19L2,894,CWF19-like protein 2; CWF19 like cell cycle control factor 2; Belongs to the CWF19 family. 9606.ENSP00000282272,ANKRD44,993,Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. 9606.ENSP00000282276,MARS2,593,"Methionine--tRNA ligase, mitochondrial; methionyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000282282,ZNF547,402,Zinc finger protein 547; May be involved in transcriptional regulation. 9606.ENSP00000282292,ZNF773,442,Zinc finger protein 773; May be involved in transcriptional regulation. 9606.ENSP00000282296,ZNF551,670,Zinc finger protein 551; May be involved in transcriptional regulation. 9606.ENSP00000282308,ZNF256,627,Zinc finger protein 256; Transcriptional repressor that plays a role in cell proliferation. Requires TRIM28 for its activity. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000282326,ZSCAN1,408,Zinc finger and SCAN domain-containing protein 1; May be involved in transcriptional regulation. 9606.ENSP00000282344,USP12,370,"Ubiquitin carboxyl-terminal hydrolase 12; Deubiquitinating enzyme. Has almost no deubiquitinating activity by itself and requires the interaction with WDR20 and WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2. In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability. Belongs to the peptidase C19 family. USP12/USP46 subfamily." 9606.ENSP00000282356,CAMK4,473,"Calcium/calmodulin-dependent protein kinase type IV; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA, which play pivotal roles in immune response, inflammation, and memory consolidation. In the thymus, regulates the CD4(+)/CD8(+) double positive thymocytes selection threshold during T-cell ontogeny. In CD4 memory T-cells, is required to link T-cell antigen receptor (TCR) signaling to the productio [...] " 9606.ENSP00000282369,TRIM36,728,E3 ubiquitin-protein ligase TRIM36; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation. May play a role in the acrosome reaction and fertilization. Belongs to the TRIM/RBCC family. 9606.ENSP00000282382,TMED7-TICAM2,404,TMED7-TICAM2 readthrough. 9606.ENSP00000282388,ZFP36L2,494,"mRNA decay activator protein ZFP36L2; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA- binding adapter protein to communicate signaling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promot [...] " 9606.ENSP00000282397,FLT1,1338,"Vascular endothelial growth factor receptor 1; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFB and PGF, and plays an essential role in the development of embryonic vasculature, the regulation of angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. May play an essential role as a negative regulator of embryonic angiogenesis by inhibiting excessive proliferation of endothelial cells. Can promote endothelial cell proliferation, survival and angiogenesis in adulthood. Its function in promoting cell proliferati [...] " 9606.ENSP00000282406,PLEKHH2,1493,Pleckstrin homology domain-containing family H member 2; In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia. 9606.ENSP00000282412,PPM1B,479,Protein phosphatase 1B; Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1- mediated antiviral signaling by dephosphorylating it at 'Ser-172'. Plays an important role in the termination of TNF-alpha-mediated NF- kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB. 9606.ENSP00000282466,IGSF10,2623,Immunoglobulin superfamily member 10; Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons) (By similarity). May be involved in the maintenance of osteochondroprogenitor cells pool (By similarity). 9606.ENSP00000282486,MBNL1,388,Muscleblind-like protein 1; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron [...] 9606.ENSP00000282499,GRIA4,902,"Glutamate receptor 4; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of [...] " 9606.ENSP00000282507,UGT3A2,523,UDP-glucuronosyltransferase 3A2; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity); Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000282516,NIPBL,2804,"Nipped-B-like protein; Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double- strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168- dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner. Along with ZNF609, promotes cortical neuron migration d [...] " 9606.ENSP00000282538,GADL1,521,"Acidic amino acid decarboxylase GADL1; May catalyze the decarboxylation of L-aspartate, 3-sulfino-L- alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate." 9606.ENSP00000282541,GPD1L,351,"Glycerol-3-phosphate dehydrogenase 1-like protein; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3- phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L; Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family." 9606.ENSP00000282561,GJA1,382,"Gap junction alpha-1 protein; Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli a [...] " 9606.ENSP00000282570,GMCL1,515,Germ cell-less protein-like 1; Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity). 9606.ENSP00000282572,CCNO,350,"Cyclin-O; Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in preparation for apical docking; Belongs to the cyclin family." 9606.ENSP00000282588,ITGA1,1179,"Integrin alpha-1; Integrin alpha-1/beta-1 is a receptor for laminin and collagen. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth." 9606.ENSP00000282605,JADE2,834,"E3 ubiquitin-protein ligase Jade-2; Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Acts as a E3 ubiquitin-protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone demethylase KDM1A. Also acts as a ubiquitin ligase E3 toward itself. Positive regulator of neurogenesis (By similarity)." 9606.ENSP00000282611,CATSPER3,398,"Cation channel sperm-associated protein 3; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte." 9606.ENSP00000282633,WASHC2A,1341,WASH complex subunit 2A; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation- promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex pro [...] 9606.ENSP00000282670,TCTEX1D1,179,Tctex1 domain containing 1. 9606.ENSP00000282701,BMP3,472,Bone morphogenetic protein 3; Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification. 9606.ENSP00000282728,HHEX,270,"Hematopoietically-expressed homeobox protein HHEX; Recognizes the DNA sequence 5'-ATTAA-3'. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity)." 9606.ENSP00000282753,GRM1,1194,"Metabotropic glutamate receptor 1; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol- calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum. May function in the light response in the retina (By similarity)." 9606.ENSP00000282841,GGPS1,300,"Geranylgeranyl pyrophosphate synthase; Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins." 9606.ENSP00000282849,ADAMTS18,1221,ADAM metallopeptidase with thrombospondin type 1 motif 18. 9606.ENSP00000282869,ZNF117,483,Zinc finger protein 117; May be involved in transcriptional regulation. 9606.ENSP00000282878,RAB3C,227,Ras-related protein Rab-3C; Protein transport. Probably involved in vesicular traffic (By similarity). 9606.ENSP00000282892,MED21,144,"Mediator of RNA polymerase II transcription subunit 21; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000282903,PLOD2,758,"Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links." 9606.ENSP00000282908,STK32B,414,Serine/threonine kinase 32B. 9606.ENSP00000282928,ZIC1,447,"Zinc finger protein ZIC 1; Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm [...] " 9606.ENSP00000283006,CENPH,247,"Centromere protein H; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate; Belongs to the CENP-H/MCM16 family." 9606.ENSP00000283025,TEKT5,485,Tektin-5; May be a structural component of the sperm flagellum. 9606.ENSP00000283027,NUBP1,320,"Cytosolic Fe-S cluster assembly factor NUBP1; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Implicated in the regulation of centrosome duplication (By similarity). Negatively regulates cilium formation and structure (By similarity)." 9606.ENSP00000283109,RIOK2,552,"Serine/threonine-protein kinase RIO2; Serine/threonine-protein kinase involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in export of the 40S pre-ribosome particles (pre-40S) from the nucleus to the cytoplasm. Its kinase activity is required for the release of NOB1, PNO1 and LTV1 from the late pre-40S and the processing of 18S-E pre- rRNA to the mature 18S rRNA. Regulates the timing of the metaphase-anaphase transition during mitotic progression, and its phosphorylation, most likely by PLK1, regulates this function." 9606.ENSP00000283131,SMARCA5,1052,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5; Helicase that possesses intrinsic ATP-dependent nucleosome- remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. [...] " 9606.ENSP00000283141,SYCP2L,812,Synaptonemal complex protein 2-like; Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes. Belongs to the SYCP2 family. 9606.ENSP00000283147,BMP6,513,Bone morphogenetic protein 6; Induces cartilage and bone formation. 9606.ENSP00000283148,UXS1,425,UDP-glucuronic acid decarboxylase 1; Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis. 9606.ENSP00000283195,RANBP2,3224,"E3 SUMO-protein ligase RanBP2; E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB. Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex [...] " 9606.ENSP00000283206,TMEM87B,555,Transmembrane protein 87B; May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN); Belongs to the LU7TM family. TMEM87 subfamily. 9606.ENSP00000283225,OR14K1,314,Olfactory receptor 14K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000283228,PTPRR,657,"Receptor-type tyrosine-protein phosphatase R; Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity)." 9606.ENSP00000283233,CCDC148,591,Coiled-coil domain containing 148. 9606.ENSP00000283243,PLA2R1,1463,"Soluble secretory phospholipase A2 receptor; Receptor for secretory phospholipase A2 (sPLA2). Acts as a receptor for phospholipase sPLA2-IB/PLA2G1B but not sPLA2-IIA/PLA2G2A. Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2-IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the p [...] " 9606.ENSP00000283249,ITGB6,788,"Integrin beta-6; Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D in its ligands. Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion. ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1. Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G- D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation. [...] " 9606.ENSP00000283254,SCN3A,2000,"Sodium channel protein type 3 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, forms a sodium- selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. May contribute to the regulation of serotonin/5- hydroxytryptamine release by enterochromaffin cells (By similarity). In pancreatic endocrine cells, required for both glucagon and glucose- induced insulin secretion (By similarity). Belongs to the sod [...] " 9606.ENSP00000283268,FEZF2,459,Fez family zinc finger protein 2; Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity (By similarity). 9606.ENSP00000283285,CD96,585,"T-cell surface protein tactile; May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation." 9606.ENSP00000283290,ATG3,314,"Ubiquitin-like-conjugating enzyme ATG3; E2 conjugating enzyme required for the cytoplasm to vacuole transport (Cvt), autophagy, and mitochondrial homeostasis. Responsible for the E2-like covalent binding of phosphatidylethanolamine to the C- terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). The ATG12-ATG5 conjugate plays a role of an E3 and promotes the transfer of ATG8-like proteins from ATG3 to phosphatidylethanolamine (PE). This step is required for the membrane association of ATG8-like proteins. The formation of the ATG8- phosphatidylethanolamine conju [...] " 9606.ENSP00000283296,ADGRF5,1346,Adhesion G protein-coupled receptor F5; Receptor that plays a critical role in lung surfactant homeostasis. May play a role in controlling adipocyte function. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000283303,ADGRF4,695,Adhesion G protein-coupled receptor F4; Orphan receptor. 9606.ENSP00000283309,FRMD1,549,FERM domain containing 1. 9606.ENSP00000283351,TRAPPC8,1435,Trafficking protein particle complex subunit 8; Plays a role in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. Maintains together with TBC1D14 the cycling pool of ATG9 required for initiation of autophagy ; Belongs to the TRS85 family. 9606.ENSP00000283357,FAM81B,452,Protein FAM81B; Family with sequence similarity 81 member B. 9606.ENSP00000283415,LPCAT1,534,"Lysophosphatidylcholine acyltransferase 1; Possesses both acyltransferase and acetyltransferase activities. Activity is calcium- independent (By similarity). Mediates the conversion of 1-acyl-sn- glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively. May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology. Involved in the regulation of lipid droplet number and size." 9606.ENSP00000283441,ZDHHC11,412,Probable palmitoyltransferase ZDHHC11; Zinc finger DHHC-type containing 11; Belongs to the DHHC palmitoyltransferase family. 9606.ENSP00000283474,UBALD1,177,UBA-like domain-containing protein 1; UBA like domain containing 1. 9606.ENSP00000283547,TEX29,151,Testis-expressed protein 29; Testis expressed 29. 9606.ENSP00000283550,SPACA7,195,Sperm acrosome-associated protein 7; Involved in fertilization. Seems not to play a direct role in sperm-egg binding or gamete fusion. 9606.ENSP00000283629,UBP1,540,Upstream-binding protein 1; Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2 (By similarity). Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA- box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box; Belongs [...] 9606.ENSP00000283632,RMND5A,391,"E3 ubiquitin-protein transferase RMND5A; Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. Catalytic activity of the complex is required for normal cell proliferation. The CTLH E3 ubiquitin- protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1." 9606.ENSP00000283646,RPIA,311,Ribose 5-phosphate isomerase A; Belongs to the ribose 5-phosphate isomerase family. 9606.ENSP00000283713,VILL,856,Villin-like protein; Possible tumor suppressor. 9606.ENSP00000283752,SERPINB3,390,Serpin B3; May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1). 9606.ENSP00000283871,HGD,445,"Homogentisate 1,2-dioxygenase." 9606.ENSP00000283875,GTF2E1,439,General transcription factor IIE subunit 1; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. 9606.ENSP00000283882,CFDP1,299,Craniofacial development protein 1; May play a role during embryogenesis. 9606.ENSP00000283905,C7orf31,590,Uncharacterized protein C7orf31; Chromosome 7 open reading frame 31. 9606.ENSP00000283916,TMPRSS11D,418,Transmembrane protease serine 11D non-catalytic chain; May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create s [...] 9606.ENSP00000283921,HOXA10,410,Homeobox protein Hox-A10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to the DNA sequence 5'-AA[AT]TTTTATTAC-3'. 9606.ENSP00000283928,JAZF1,243,"Juxtaposed with another zinc finger protein 1; Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2. Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By simi [...] " 9606.ENSP00000283937,PID1,250,"PTB-containing, cubilin and LRP1-interacting protein; Increases proliferation of preadipocytes without affecting adipocytic differentiation." 9606.ENSP00000283946,FBXO36,188,F-box only protein 36; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000284031,DDAH1,285,"N(G),N(G)-dimethylarginine dimethylaminohydrolase 1; Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)- monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation." 9606.ENSP00000284061,DGKE,567,Diacylglycerol kinase epsilon; Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition. 9606.ENSP00000284073,MSI2,328,RNA-binding protein Musashi homolog 2; RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity); Belongs to the Musashi family. 9606.ENSP00000284110,HS3ST3A1,406,"Heparan sulfate glucosamine 3-O-sulfotransferase 3A1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to antico [...] " 9606.ENSP00000284116,GDPD1,314,"Lysophospholipase D GDPD1; Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylethanolamine (lyso-PE) and lysophosphatidylcholine (lyso-PC). May be involved in bioactive N-acylethanolamine biosynthesis. Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine." 9606.ENSP00000284136,SEMA3D,777,Semaphorin-3D; Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity). 9606.ENSP00000284142,ASB17,295,Ankyrin repeat and SOCS box protein 17; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000284154,GRAP,217,GRB2-related adapter protein; Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing. 9606.ENSP00000284202,IMPACT,320,"Protein IMPACT; Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 ac [...] " 9606.ENSP00000284240,THY1,161,Thy-1 membrane glycoprotein; May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain. 9606.ENSP00000284245,C16orf74,76,Uncharacterized protein C16orf74; Chromosome 16 open reading frame 74. 9606.ENSP00000284262,JPH3,748,Junctophilin-3; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory. 9606.ENSP00000284268,ANKH,492,"Progressive ankylosis protein homolog; Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter; Belongs to the ANKH family." 9606.ENSP00000284273,UBASH3B,649,"Ubiquitin-associated and SH3 domain-containing protein B; Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors and EGFR, on the cell surface. Exhibits tyrosine phosphatase activity toward several substrates including EGFR, FAK, SYK, and ZAP70. Down-regulates proteins that are dually modified by both protein tyrosine phosphorylation and ubiquitination." 9606.ENSP00000284274,OTULIN,352,"Ubiquitin thioesterase otulin; Deubiquitinase that specifically removes linear ('Met-1'- linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response. Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex. Acts as a negative regulator of NF-kappa-B by regulating the activity of the LUBAC complex. OTULIN function is mainly restricted to homeostasis of the LUBAC complex: acts by removing 'Met- 1'-linked autoubiquitination of the LUBAC complex, thereby p [...] " 9606.ENSP00000284288,PANX3,392,Pannexin-3; Structural component of the gap junctions and the hemichannels; Belongs to the pannexin family. 9606.ENSP00000284292,NRGN,78,NEUG(55-78); Acts as a 'third messenger' substrate of protein kinase C- mediated molecular cascades during synaptic development and remodeling. Binds to calmodulin in the absence of calcium (By similarity). Belongs to the neurogranin family. 9606.ENSP00000284311,GPR15,360,G-protein coupled receptor 15; Probable chemokine receptor. Alternative coreceptor with CD4 for HIV-1 infection; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000284320,TOMM70,608,Mitochondrial import receptor subunit TOM70; Receptor that accelerates the import of all mitochondrial precursor proteins. 9606.ENSP00000284322,ABI3BP,1075,Target of Nesh-SH3; ABI family member 3 binding protein. 9606.ENSP00000284382,CERS3,383,"Ceramide synthase 3; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very- long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor. It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal. differentiation." 9606.ENSP00000284425,ABCA6,1617,ATP-binding cassette sub-family A member 6; Probable transporter which may play a role in macrophage lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family. 9606.ENSP00000284440,UCHL1,223,Ubiquitin carboxyl-terminal hydrolase isozyme L1; Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (Probable). This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes (By similarity). The homodimer may have ATP-independent ubiquitin ligase activity. 9606.ENSP00000284476,DISP1,1524,Protein dispatched homolog 1; Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion ; Belongs to the dispatched family. 9606.ENSP00000284486,FAM167A,214,Protein FAM167A; Family with sequence similarity 167 member A; Belongs to the FAM167 (SEC) family. 9606.ENSP00000284503,NEIL2,332,"Endonuclease 8-like 2; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5- hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with [...] " 9606.ENSP00000284509,ATP8B4,1192,Probable phospholipid-transporting ATPase IM; Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). 9606.ENSP00000284523,WNT3A,352,Protein Wnt-3a; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family. Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro). 9606.ENSP00000284551,TRIM11,468,"E3 ubiquitin-protein ligase TRIM11; E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation [...] " 9606.ENSP00000284601,PPP1R3A,1122,"Protein phosphatase 1 regulatory subunit 3A; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity)." 9606.ENSP00000284617,CCSAP,270,"Centriole, cilia and spindle-associated protein; Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle. May play a role in embryonic development. May be required for proper cilia beating (By similarity)." 9606.ENSP00000284629,ASZ1,475,"Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the p [...] " 9606.ENSP00000284637,SH3RF1,888,"E3 ubiquitin-protein ligase SH3RF1; Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination. Stimulates ubiquitination of potassium channel KCNJ1, enhancing it's dynamin-dependent and clathrin- independent endocytosis. Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pa [...] " 9606.ENSP00000284669,KLHL41,606,"Kelch-like protein 41; Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells." 9606.ENSP00000284674,GPR26,337,"G-protein coupled receptor 26; Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP." 9606.ENSP00000284690,DHX32,743,Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32; DEAH-box helicase 32; Belongs to the DEAD box helicase family. DEAH subfamily. 9606.ENSP00000284694,C10orf90,699,"(E2-independent) E3 ubiquitin-conjugating enzyme FATS; Tumor suppressor that is required to sustain G2/M checkpoint after DNA damage. Acts as a p53/TP53 activator by inhibiting MDM2 binding to p53/TP53 and stimulating non-proteolytic polyubiquitination of p53/TP53. Exhibits ubiquitin ligase (E3) activity and assemble ubiquitin polymers through 'Lys-11'- (K11-), 'Lys-29'- (K29-) and 'Lys- 63'- (K63)-linkages, independently of the ubiquitin-conjugating enzyme (E2). Promotes p53/TP53-dependent transcription of CDKN1A/p21, leading to robust checkpoint response. Mediates CDKN1A/p21 protein [...] " 9606.ENSP00000284719,OLA1,396,"Obg-like ATPase 1; Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. YchF/OLA1 subfamily." 9606.ENSP00000284727,ATP5MC3,142,"ATP synthase F(0) complex subunit C3, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...] " 9606.ENSP00000284767,PDLIM3,364,PDZ and LIM domain protein 3; May play a role in the organization of actin filament arrays within muscle cells. 9606.ENSP00000284818,LY96,160,"Lymphocyte antigen 96; Binds bacterial lipopolysaccharide (LPS). Cooperates with TLR4 in the innate immune response to bacterial lipopolysaccharide (LPS), and with TLR2 in the response to cell wall components from Gram-positive and Gram-negative bacteria. Enhances TLR4-dependent activation of NF-kappa-B. Cells expressing both LY96 and TLR4, but not TLR4 alone, respond to LPS." 9606.ENSP00000284856,TMSB4Y,44,"Thymosin beta-4, Y-chromosomal; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity); Belongs to the thymosin beta family." 9606.ENSP00000284878,CXADR,365,"Coxsackievirus and adenovirus receptor; Component of the epithelial apical junction complex that may function as a homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downs [...] " 9606.ENSP00000284881,C21orf91,297,Protein EURL homolog; Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway; Belongs to the EURL family. 9606.ENSP00000284885,TMPRSS15,1019,"Enteropeptidase non-catalytic heavy chain; Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases." 9606.ENSP00000284981,APP,770,"Gamma-secretase C-terminal fragment 50; Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis. Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis- inducing pathways such as those mediated by G(O) and JIP. Inhibits [...] " 9606.ENSP00000284984,ADAMTS1,967,"A disintegrin and metalloproteinase with thrombospondin motifs 1; Cleaves aggrecan, a cartilage proteoglycan, at the '1938- Glu-|-Leu-1939' site (within the chondroitin sulfate attachment domain), and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture." 9606.ENSP00000284987,ADAMTS5,930,"A disintegrin and metalloproteinase with thrombospondin motifs 5; Metalloproteinase that plays an important role in connective tissue organization, development, inflammation, arthritis, and cell migration. ADAMTS5 is an extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin sulfate proteoglycans (CSPGs) including aggrecan, versican, brevican and neurocan. Cleavage within the hyalectans occurs at Glu-Xaa recognition motifs. Plays a role in embryonic development, including limb and cardiac morphogenesis, and skeletal muscle de [...] " 9606.ENSP00000284995,TSEN2,465,"tRNA-splicing endonuclease subunit Sen2; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural [...] " 9606.ENSP00000285013,SLFN13,897,Schlafen family member 13; Endoribonuclease that cleaves tRNAs and rRNAs. Cleaves tRNAs 11 nucleotides from the 3'-terminus at the acceptor stem. Does not act on tRNA(Sec). Able to restrict HIV-1 virus replication; ability to inhibit HIV-1 replication is dependent on endoribonuclease activity. 9606.ENSP00000285018,WNT7A,349,"Protein Wnt-7a; Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta- catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development. Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation. Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal [...] " 9606.ENSP00000285021,XPC,940,DNA repair protein complementing XP-C cells; Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen- bonded bases by forming a transient nucleoprotein intermediate complex which matures in [...] 9606.ENSP00000285039,MYO5B,1848,Unconventional myosin-Vb; May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis; Belongs to the TRAFAC cla [...] 9606.ENSP00000285046,FGD5,1462,"FYVE, RhoGEF and PH domain-containing protein 5; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF- induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape." 9606.ENSP00000285071,FLCN,579,Folliculin; May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. 9606.ENSP00000285093,ACAA2,397,"3-ketoacyl-CoA thiolase, mitochondrial; In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta- oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable) [...] " 9606.ENSP00000285116,SKA1,255,"Spindle and kinetochore-associated protein 1; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a [...] " 9606.ENSP00000285199,USP43,1123,Ubiquitin carboxyl-terminal hydrolase 43; May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). Belongs to the peptidase C19 family. 9606.ENSP00000285208,RAB6B,208,Ras-related protein Rab-6B; Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000285238,ABCC3,1527,Canalicular multispecific organic anion transporter 2; May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity). 9606.ENSP00000285243,ANKRD40,368,Ankyrin repeat domain 40. 9606.ENSP00000285279,VOPP1,172,"Vesicular, overexpressed in cancer, prosurvival protein 1; Increases the transcriptional activity of NFKB1 by facilitating its nuclear translocation, DNA-binding and associated apoptotic response, when overexpressed; Belongs to the VOPP1/ECOP family." 9606.ENSP00000285298,MRPS17,130,Mitochondrial ribosomal protein S17; Belongs to the universal ribosomal protein uS17 family. 9606.ENSP00000285311,DKK2,259,"Dickkopf-related protein 2; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity); Belongs to the dickkopf family." 9606.ENSP00000285379,CA2,260,Carbonic anhydrase 2; Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton- coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6. 9606.ENSP00000285381,CA3,260,Carbonic anhydrase 3; Reversible hydration of carbon dioxide. 9606.ENSP00000285393,ATP6V0D2,350,"V-type proton ATPase subunit d 2; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity)." 9606.ENSP00000285398,ERCC3,782,"General transcription and DNA repair factor IIH helicase subunit XPB; ATP-dependent 3'-5' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required fo [...] " 9606.ENSP00000285402,ODF1,250,Outer dense fiber protein 1; Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. 9606.ENSP00000285407,KLF10,480,"Krueppel-like factor 10; Transcriptional repressor which binds to the consensus sequence 5'-GGTGTG-3'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation. Belongs to the Sp1 C2H2-type zinc-finger prote [...] " 9606.ENSP00000285419,PIP4P2,257,"Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of phosphatidylinositol-4,5- bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5- monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate. Negatively regulates the phagocytosis of large particles by reducing phagosomal phosphatidylinositol 4,5-bisphosphate accumulat [...] " 9606.ENSP00000285420,OTUD6B,323,"Deubiquitinase OTUD6B; [Isoform 1]: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1. May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation. May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation. May also play a role in proteasome assembly and function." 9606.ENSP00000285518,AGPAT5,364,"1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor. Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl- CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA. Activity toward lysophosphatidyl [...] " 9606.ENSP00000285599,MAN2B2,1009,Epididymis-specific alpha-mannosidase; Mannosidase alpha class 2B member 2; Belongs to the glycosyl hydrolase 38 family. 9606.ENSP00000285667,HSPA13,471,Heat shock 70 kDa protein 13; Has peptide-independent ATPase activity. 9606.ENSP00000285670,SAMSN1,441,SAM domain-containing protein SAMSN-1; Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity). 9606.ENSP00000285697,C16orf87,154,UPF0547 protein C16orf87; Chromosome 16 open reading frame 87; Belongs to the UPF0547 family. 9606.ENSP00000285735,RHOC,193,Rho-related GTP-binding protein RhoC; Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells. 9606.ENSP00000285737,LONP2,852,"Lon protease homolog 2, peroxisomal; ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1." 9606.ENSP00000285805,TRIM74,250,Tripartite motif containing 74; Belongs to the TRIM/RBCC family. 9606.ENSP00000285814,NIFK,293,Nucleolar protein interacting with the FHA domain of MKI67. 9606.ENSP00000285848,OXA1L,495,Mitochondrial inner membrane protein OXA1L; Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria. Belongs to the OXA1/ALB3/YidC family. 9606.ENSP00000285871,CCDC146,955,Coiled-coil domain containing 146. 9606.ENSP00000285873,GEMIN5,1508,"Gem-associated protein 5; Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive [...] " 9606.ENSP00000285879,MAGEC1,1142,Melanoma-associated antigen C1; MAGE family member C1. 9606.ENSP00000285928,LRGUK,825,"Leucine-rich repeat and guanylate kinase domain-containing protein; Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis." 9606.ENSP00000285930,AKR1B1,316,"Aldo-keto reductase family 1 member B1; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosacharides, bile acids and xenobiotics substrates. Key enzyme in the polyol pathway, catalyzes reduction of glucose to sorbitol during hyperglycemia. Reduces steroids and their derivatives and prostaglandins. Displays low enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis- retinal. Catalyzes t [...] " 9606.ENSP00000285947,SETD9,299,SET domain containing 9. 9606.ENSP00000285968,NUP205,2012,"Nuclear pore complex protein Nup205; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC." 9606.ENSP00000285979,CYP2C18,490,"Cytochrome P450 2C18; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics." 9606.ENSP00000286031,C1orf112,853,Uncharacterized protein C1orf112; Chromosome 1 open reading frame 112. 9606.ENSP00000286049,XAGE2,111,X antigen family member 2. 9606.ENSP00000286063,PDE11A,933,"Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively." 9606.ENSP00000286070,RBM45,474,RNA-binding protein 45; RNA-binding protein with binding specificity for poly(C). May play an important role in neural development. 9606.ENSP00000286175,PPIL3,165,Peptidyl-prolyl cis-trans isomerase-like 3; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing; Belongs to the cyclophilin-type PPIase family. PPIL3 subfamily. 9606.ENSP00000286186,CASP10,522,"Caspase-10 subunit p23/17; Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC. Isoform C is proteolytically inactive. Belongs to the peptidase C14A family." 9606.ENSP00000286201,FZD7,574,"Frizzled-7; Receptor for Wnt proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to invo [...] " 9606.ENSP00000286234,DEPTOR,409,DEP domain-containing mTOR-interacting protein; Negative regulator of the mTORC1 and mTORC2 signaling pathways. Inhibits the kinase activity of both complexes. 9606.ENSP00000286298,SLC26A2,739,Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation. 9606.ENSP00000286301,CSF1R,972,"Macrophage colony-stimulating factor 1 receptor; Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulat [...] " 9606.ENSP00000286307,LSM11,360,"U7 snRNA-associated Sm-like protein LSm11; Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (By similarity). Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to the Sm-binding site of U7 snRNA." 9606.ENSP00000286317,MED7,233,"Mediator of RNA polymerase II transcription subunit 7; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000286349,TRIM42,723,Tripartite motif containing 42; Belongs to the TRIM/RBCC family. 9606.ENSP00000286353,PXYLP1,480,"2-phosphoxylose phosphatase 1; Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG- protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation duri [...] " 9606.ENSP00000286355,ADCY8,1251,"Adenylate cyclase type 8; Catalyzes the formation of cAMP in response to calcium entry leadings to cAMP signaling activation that affect processes suche as synaptic plasticity and insulin secretion. Plays a role in many brain functions, such as learning, memory, drug addiction, and anxiety modulation through regulation of synaptic plasticity by modulating long-term memory and long-term potentiation (LTP) through CREB transcription factor activity modulation. Plays a central role in insulin secretion by controlling glucose homeostasis through glucagon- like peptide 1 and glucose signali [...] " 9606.ENSP00000286364,RASA2,849,Ras GTPase-activating protein 2; Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4). 9606.ENSP00000286371,ATP1B3,279,"Sodium/potassium-transporting ATPase subunit beta-3; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known." 9606.ENSP00000286398,SMC2,1197,"Structural maintenance of chromosomes protein 2; Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases; Belongs to the SMC family. SMC2 subfamily." 9606.ENSP00000286424,TMBIM4,285,"Protein lifeguard 4; Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release." 9606.ENSP00000286428,VBP1,197,Prefoldin subunit 3; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit alpha family. 9606.ENSP00000286479,NAT2,290,Arylamine N-acetyltransferase 2; Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. 9606.ENSP00000286523,ELMSAN1,1045,Mitotic deacetylase-associated SANT domain protein. 9606.ENSP00000286548,GNAQ,359,Guanine nucleotide-binding protein G(q) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM- derived neutrophils and dendritic cells (in vitro) (By similarity). Belongs to the G-alpha family. G(q) subfamily. 9606.ENSP00000286574,WIF1,379,Wnt inhibitory factor 1; Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation. 9606.ENSP00000286614,MMP16,607,"Matrix metalloproteinase-16; Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels. Isoform short cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells. Belongs to the peptidase M10A family." 9606.ENSP00000286628,KCNMA1,1236,"Calcium-activated potassium channel subunit alpha-1; Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in t [...] " 9606.ENSP00000286639,BATF,125,"Basic leucine zipper transcriptional factor ATF-like; AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system: specifically mediates the differentiation of T-helper 17 cells (Th17), follicular T-helper cells (TfH), CD8(+) dendritic cells and class- switch recombination (CSR) in B-cells. Acts via the formation of a heterodimer with JUNB that recognizes and binds DNA sequence 5'- TGA[CG]TCA-3'. The BATF-JUNB heterodimer also forms a complex with IRF4 (or IRF8) in immune cells, leading to recognition of AICE sequence (5'- TGAnTCA/G [...] " 9606.ENSP00000286648,DCK,260,"Deoxycytidine kinase; Required for the phosphorylation of the deoxyribonucleosides deoxycytidine (dC), deoxyguanosine (dG) and deoxyadenosine (dA). Has broad substrate specificity, and does not display selectivity based on the chirality of the substrate. It is also an essential enzyme for the phosphorylation of numerous nucleoside analogs widely employed as antiviral and chemotherapeutic agents; Belongs to the DCK/DGK family." 9606.ENSP00000286657,ADAMTS3,1205,A disintegrin and metalloproteinase with thrombospondin motifs 3; Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens. 9606.ENSP00000286688,C8orf37,207,Protein C8orf37; May be involved in photoreceptor outer segment disk morphogenesis (By similarity). 9606.ENSP00000286692,DRAM2,266,"DNA damage-regulated autophagy modulator protein 2; Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1." 9606.ENSP00000286713,STOM,288,Erythrocyte band 7 integral membrane protein; Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity; Belongs to the band 7/mec-2 family. 9606.ENSP00000286719,PPEF2,753,"Serine/threonine-protein phosphatase with EF-hands 2; May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission." 9606.ENSP00000286732,CFAP161,301,"Cilia- and flagella-associated protein 161; May play a role in motile cilia function, possibly by acting on dynein arm assembly." 9606.ENSP00000286733,NAAA,359,"N-acylethanolamine-hydrolyzing acid amidase subunit alpha; Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N-palmitoylethanolamine > N- myristoylethanolamine > N-lauroylethanolamine = N-stearoylethanolamine > N-arachidonoylethanolamine > N-oleoylethanolamine. Also exhibits weak hydrolytic activity against the ceramides N-lauroylsphingosine and N- palmitoylsphingosine." 9606.ENSP00000286744,ADAMTSL3,1691,ADAMTS-like protein 3; ADAMTS like 3. 9606.ENSP00000286758,CXCL13,109,"C-X-C motif chemokine 13; Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B- lymphocytes. Binds to BLR1/CXCR5." 9606.ENSP00000286760,WHAMM,809,"WASP homolog-associated protein with actin, membranes and microtubules; Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule-binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of G [...] " 9606.ENSP00000286788,CCT8,548,"T-complex protein 1 subunit theta; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000286794,NAA11,229,N-alpha-acetyltransferase 11; Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex; Belongs to the acetyltransferase family. ARD1 subfamily. 9606.ENSP00000286808,CLDN17,224,"Claudin-17; Channel-forming tight junction protein with selectivity for anions, including chloride and bicarbonate, and for solutes smaller than 9 Angstrom in diameter. In the kidney proximal tubule, may be involved in quantitative reabsorption of filtered anions. Does not affect water permeability; Belongs to the claudin family." 9606.ENSP00000286827,TIAM1,1591,"T-lymphoma invasion and metastasis-inducing protein 1; Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Activates RAC1, CDC42, and to a lesser extent RHOA. Required for normal cell adhesion and cell migration." 9606.ENSP00000286835,SCAF4,1147,"SR-related and CTD-associated factor 4; Anti-terminator protein required to prevent early mRNA termination during transcription. Together with SCAF8, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins. Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation. Independently [...] " 9606.ENSP00000286918,ANKRD9,317,Ankyrin repeat domain 9. 9606.ENSP00000286955,FUT6,359,"Alpha-(1,3)-fucosyltransferase 6; Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP-beta-fucose to alpha-2,3 sialylated substrates." 9606.ENSP00000287008,PCDH1,1237,Protocadherin-1; May be involved in cell-cell interaction processes and in cell adhesion. 9606.ENSP00000287020,GDF6,455,"Growth/differentiation factor 6; Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal- ventral positional information in the retina and controls the formation of the retinotectal map. Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-speci [...] " 9606.ENSP00000287025,MTERF3,417,"Transcription termination factor 3, mitochondrial; Binds promoter DNA and regulates initiation of transcription. Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity); Belongs to the mTERF family." 9606.ENSP00000287042,KCNS2,477,Potassium voltage-gated channel subfamily S member 2; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2. 9606.ENSP00000287078,TYSND1,566,"Peroxisomal leader peptide-processing protease, 15 kDa form; Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta-oxidation of fatty acids." 9606.ENSP00000287097,CD109,1445,CD109 antigen; Modulates negatively TGFB1 signaling in keratinocytes. Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family. 9606.ENSP00000287139,NODAL,347,Nodal homolog; Essential for mesoderm formation and axial patterning during embryonic development; Belongs to the TGF-beta family. 9606.ENSP00000287143,PRG3,225,"Proteoglycan 3; Possesses similar cytotoxic and cytostimulatory activities to PRG2/MBP. In vitro, stimulates neutrophil superoxide production and IL8 release, and histamine and leukotriene C4 release from basophils." 9606.ENSP00000287152,KIF6,814,Kinesin-like protein KIF6; Kinesin family member 6. 9606.ENSP00000287156,UBE2L6,153,Ubiquitin/ISG15-conjugating enzyme E2 L6; Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3. 9606.ENSP00000287169,ZDHHC5,715,Palmitoyltransferase ZDHHC5; Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5. Also palmitoylates FLOT2 (By similarity). 9606.ENSP00000287202,CELF6,481,CUGBP Elav-like family member 6; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA; Belongs to the CELF/BRUNOL family. 9606.ENSP00000287218,ZFAND3,227,Zinc finger AN1-type containing 3. 9606.ENSP00000287239,KAT6B,2073,Histone acetyltransferase KAT6B; Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2- dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. 9606.ENSP00000287275,GLYATL2,294,"Glycine N-acyltransferase-like protein 2; Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N- acylglycines. Shows a preference for monounsaturated fatty acid oleoyl- CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine." 9606.ENSP00000287295,AIFM1,613,"Apoptosis-inducing factor 1, mitochondrial; Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (By similarity). Binds to DNA in a sequence-independent manner. Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthes [...] " 9606.ENSP00000287322,BAG4,457,BAG family molecular chaperone regulator 4; Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria. 9606.ENSP00000287380,TBC1D31,1066,TBC1 domain family member 31. 9606.ENSP00000287387,WDYHV1,205,"Protein N-terminal glutamine amidohydrolase; Mediates the side-chain deamidation of N-terminal glutamine residues to glutamate, an important step in N-end rule pathway of protein degradation. Conversion of the resulting N-terminal glutamine to glutamate renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. Does not act on substrates with internal or C-terminal glutamine and does not act on non-glutamine residues in any position. Does not deaminate acetylated N-terminal glutamine. With the exception of proline, all tested sec [...] " 9606.ENSP00000287394,ATAD2,1390,"ATPase family AAA domain-containing protein 2; May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells." 9606.ENSP00000287437,NSMCE2,247,"E3 SUMO-protein ligase NSE2; E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin com [...] " 9606.ENSP00000287461,ZNF689,500,Zinc finger protein 689; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000287474,FRRS1,626,Ferric-chelate reductase 1; Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm; Belongs to the FRRS1 family. 9606.ENSP00000287482,SASS6,657,Spindle assembly abnormal protein 6 homolog; Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification. 9606.ENSP00000287490,COX6A2,97,"Cytochrome c oxidase subunit 6A2, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembran [...] " 9606.ENSP00000287538,ZIC3,467,Zinc finger protein ZIC 3; Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC- 3'; Belongs to the GLI C2H2-type zinc-finger protein family. 9606.ENSP00000287585,LHFPL4,247,LHFPL tetraspan subfamily member 4 protein; Plays a role in the regulation of inhibitory synapse formation and function by being involved in maintening gamma- aminobutyric acid receptors (GABAARs) clustering and their associated scaffold proteins at inhibitory synaptic sites. Acts in concert with NLGN2 to recruit or stabilize GABAARs. 9606.ENSP00000287590,B3GNT7,401,"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7; May be involved in keratane sulfate biosynthesis. Transfers N-acetylgalactosamine on to keratan sulfate-related glycans. May play a role in preventing cells from migrating out of the original tissues and invading surrounding tissues." 9606.ENSP00000287598,BUB1B,1050,"Mitotic checkpoint serine/threonine-protein kinase BUB1 beta; Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase- promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Neg [...] " 9606.ENSP00000287600,PDE6D,150,"Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; Promotes the release of prenylated target proteins from cellular membranes. Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location. Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E. Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasin [...] " 9606.ENSP00000287641,SST,116,"Somatostatin-14; [Somatostatin-14]: Inhibits the secretion of pituitary hormones, including that of growth hormone/somatotropin (GH1), PRL, ACTH, luteinizing hormone (LH) and TSH. Also impairs ghrelin- and GnRH- stimulated secretion of GH1 and LH; the inhibition of ghrelin- stimulated secretion of GH1 can be further increased by neuronostatin." 9606.ENSP00000287647,FANCD2,1471,"Fanconi anemia group D2 protein; Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by rep [...] " 9606.ENSP00000287652,TATDN2,761,Putative deoxyribonuclease TATDN2; Putative deoxyribonuclease. 9606.ENSP00000287667,NOMO1,1222,Nodal modulator 1; May antagonize Nodal signaling. 9606.ENSP00000287675,EXOG,368,"Nuclease EXOG, mitochondrial; Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5'-3' exonuclease activity." 9606.ENSP00000287706,NTAN1,310,"Protein N-terminal asparagine amidohydrolase; N-terminal asparagine deamidase that mediates deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by NTAN1/PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as spec [...] " 9606.ENSP00000287713,NMNAT2,307,"Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2; Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substra [...] " 9606.ENSP00000287727,ZFYVE9,1425,Zinc finger FYVE domain-containing protein 9; Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization. 9606.ENSP00000287748,LYZL4,146,Lysozyme-like protein 4; May be involved in fertilization (By similarity). Has no detectable bacteriolytic and lysozyme activities in vitro (By similarity); Belongs to the glycosyl hydrolase 22 family. 9606.ENSP00000287777,KLHL40,621,"Kelch-like protein 40; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development. The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity)." 9606.ENSP00000287814,TIMP4,224,"Metalloproteinase inhibitor 4; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP-9." 9606.ENSP00000287820,PPARG,505,"Peroxisome proliferator-activated receptor gamma; Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut ho [...] " 9606.ENSP00000287842,NRG1,645,"Pro-neuregulin-1, membrane-bound isoform; Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gla [...] " 9606.ENSP00000287844,ABCF2-2,623,ATP binding cassette subfamily F member 2. 9606.ENSP00000287859,ODR4,454,Protein odr-4 homolog; May play a role in the trafficking of a subset of G-protein coupled receptors; Belongs to the ODR-4 family. 9606.ENSP00000287878,PRKAG2,569,"5'-AMP-activated protein kinase subunit gamma-2; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a [...] " 9606.ENSP00000287907,HTR5A,357,"5-hydroxytryptamine receptor 5A; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000287916,CLDN12,244,"Claudin-12; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000287934,FZD1,647,"Frizzled-1; Receptor for Wnt proteins. Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B. Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been se [...] " 9606.ENSP00000287936,HMGCR,888,3-hydroxy-3-methylglutaryl-coenzyme A reductase; Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins. 9606.ENSP00000287957,GATAD1,269,"GATA zinc finger domain-containing protein 1; Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3)." 9606.ENSP00000287996,IPPK,491,"Inositol-pentakisphosphate 2-kinase; Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis; Belongs to the IPK1 type 2 family." 9606.ENSP00000288014,THTPA,230,Thiamine-triphosphatase; Hydrolase highly specific for thiamine triphosphate (ThTP). Belongs to the ThTPase family. 9606.ENSP00000288022,PDF,243,"Peptide deformylase, mitochondrial; Removes the formyl group from the N-terminal Met of newly synthesized proteins; Belongs to the polypeptide deformylase family." 9606.ENSP00000288025,TMED6,240,Transmembrane p24 trafficking protein 6. 9606.ENSP00000288050,PDPR,879,"Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial; Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine; Belongs to the GcvT family." 9606.ENSP00000288065,ARMC12,367,Armadillo repeat containing 12. 9606.ENSP00000288078,FCSK,1084,L-fucose kinase; Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides. 9606.ENSP00000288087,MDP1,176,Magnesium-dependent phosphatase 1; Magnesium-dependent phosphatase which may act as a tyrosine phosphatase. 9606.ENSP00000288135,KIT,976,"Mast/stem cell growth factor receptor Kit; Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activat [...] " 9606.ENSP00000288139,CACNA1D,2181,"Voltage-dependent L-type calcium channel subunit alpha-1D; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. B [...] " 9606.ENSP00000288167,IL17RB,502,Interleukin-17 receptor B; Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells. 9606.ENSP00000288177,ZNF19,458,Zinc finger protein 19; May be involved in transcriptional regulation. 9606.ENSP00000288207,CCNB2,398,G2/mitotic-specific cyclin-B2; Essential for the control of the cell cycle at the G2/M (mitosis) transition; Belongs to the cyclin family. Cyclin AB subfamily. 9606.ENSP00000288221,ERC2,957,ERC protein 2; Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ. 9606.ENSP00000288228,FAM81A,368,Protein FAM81A; Family with sequence similarity 81 member A; Belongs to the FAM81 family. 9606.ENSP00000288235,MYO1E,1108,"Unconventional myosin-Ie; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cyto [...] " 9606.ENSP00000288266,APPL1,709,"DCC-interacting protein 13-alpha; Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism. Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex. Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated pha [...] " 9606.ENSP00000288368,PREX2,1606,"Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein; Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5- trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signaling, acting directly downstream of both G protein-coupled receptors and phosphoinositide 3-kinase." 9606.ENSP00000288462,C9orf43,461,Uncharacterized protein C9orf43; Chromosome 9 open reading frame 43. 9606.ENSP00000288490,DGKI,1065,Diacylglycerol kinase iota. 9606.ENSP00000288532,COQ5,327,"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl- 6-methoxy-1,4-benzoquinol (DMQH2); Belongs to the class I-like SAM-binding methyltransferase superfamily. MenG/UbiE family." 9606.ENSP00000288607,PSMG3,122,Proteasome assembly chaperone 3; Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes; Belongs to the PSMG3 family. 9606.ENSP00000288670,FMNL2,1092,Formin-like protein 2; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics; Belongs to the formin homology family. 9606.ENSP00000288680,SPPL3,384,"Signal peptide peptidase-like 3; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries. Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1. Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furi [...] " 9606.ENSP00000288699,DPYSL5,564,Dihydropyrimidinase-related protein 5; May have a function in neuronal differentiation and/or axon growth; Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. 9606.ENSP00000288710,DRC1,740,Dynein regulatory complex protein 1; Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules. Belongs to the DRC1 family. 9606.ENSP00000288774,PEX10,346,Peroxisome biogenesis factor 10; Somewhat implicated in the biogenesis of peroxisomes. 9606.ENSP00000288828,WIPI2,454,"WD repeat domain phosphoinositide-interacting protein 2; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Involved in an early step of the formation of preautophagosomal structures. Binds and is activated by phosphatidylinositol 3- phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases. Once activated, WIPI2 recruits at phagophore assembly sites the ATG12- ATG5-ATG16 [...] " 9606.ENSP00000288840,SMAD6,496,"Mothers against decapentaplegic homolog 6; Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF- kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor- activated SMAD1-binding. Binds to regulatory elements in target promoter regions." 9606.ENSP00000288861,CIB4,185,Calcium and integrin binding family member 4. 9606.ENSP00000288912,WDR66,1149,Cilia- and flagella-associated protein 251; Involved in spermatozoa motility. May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). 9606.ENSP00000288937,MRPL17,175,Mitochondrial ribosomal protein L17. 9606.ENSP00000288943,DUSP2,314,Dual specificity protein phosphatase 2; Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. 9606.ENSP00000288955,GRHL3,626,Grainyhead-like protein 3 homolog; Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes. xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epider [...] 9606.ENSP00000289004,HPD,393,4-hydroxyphenylpyruvate dioxygenase; Key enzyme in the degradation of tyrosine; Belongs to the 4HPPD family. 9606.ENSP00000289013,RHPN1,670,"Rhophilin-1; Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules; Belongs to the RHPN family." 9606.ENSP00000289081,FANCC,558,"Fanconi anemia group C protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1." 9606.ENSP00000289104,MRAS,208,Ras-related protein M-Ras; Serves as an important signal transducer for a novel upstream stimuli in controlling cell proliferation. Activates the MAP kinase pathway. 9606.ENSP00000289119,ABHD3,409,"Phospholipase ABHD3; Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain-containing and oxidatively truncated phospholipids; Belongs to the AB hydrolase superfamily. AB hydrolase 4 family." 9606.ENSP00000289166,TENT5B,425,Terminal nucleotidyltransferase 5B; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase; Belongs to the TENT family. 9606.ENSP00000289228,ACTR1B,376,Beta-centractin; Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome. 9606.ENSP00000289248,RHBDL2,303,"Rhomboid-related protein 2, C-terminal fragment; Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3; Belongs to the peptidase S54 family." 9606.ENSP00000289269,PCDHAC2,1007,Protocadherin alpha-C2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000289272,PCDHA13,950,Protocadherin alpha-13; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000289316,H2BC5,126,"Histone H2B type 1-D; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000289359,MITD1,249,"MIT domain-containing protein 1; Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex." 9606.ENSP00000289361,BTN3A1,513,"Butyrophilin subfamily 3 member A1; Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate." 9606.ENSP00000289371,EIF5B,1220,Eukaryotic translation initiation factor 5B; Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes. 9606.ENSP00000289373,TMSB15A,45,Thymosin beta-15A; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity); Belongs to the thymosin beta family. 9606.ENSP00000289382,CNOT11,510,"CCR4-NOT transcription complex subunit 11; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is required for the association of CNOT10 with the CCR4-NOT complex. Seems not to be required for complex deadenylase function; Belongs to the CNOT11 family." 9606.ENSP00000289388,CATIP,387,Ciliogenesis-associated TTC17-interacting protein; Plays a role in primary ciliogenesis by modulating actin polymerization. 9606.ENSP00000289416,ACSM3,586,"Acyl-coenzyme A synthetase ACSM3, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms (By similarity)." 9606.ENSP00000289429,CD1A,327,T-cell surface glycoprotein CD1a; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells. 9606.ENSP00000289448,HMHB1,41,"Minor histocompatibility antigen HB-1; Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-ver [...] " 9606.ENSP00000289473,NCF1,390,"Neutrophil cytosol factor 1; NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production)." 9606.ENSP00000289528,ZFAND2B,257,"AN1-type zinc finger protein 2B; Plays a role in protein homeostasis by regulating both the translocation and the ubiquitin-mediated proteasomal degradation of nascent proteins at the endoplasmic reticulum. It is involved in the regulation of signal-mediated translocation of proteins into the endoplasmic reticulum. It also plays a role in the ubiquitin-mediated proteasomal degradation of proteins for which signal-mediated translocation to the endoplasmic reticulum has failed. May therefore function in the endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism tha [...] " 9606.ENSP00000289547,NPC1L1,1359,"NPC1-like intracellular cholesterol transporter 1; Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhib [...] " 9606.ENSP00000289575,SLCO2B1,709,"Solute carrier organic anion transporter family member 2B1; Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost." 9606.ENSP00000289619,PAGE5,130,PAGE family member 5; Belongs to the GAGE family. 9606.ENSP00000289672,PKD1L1,2849,Polycystic kidney disease protein 1-like 1; Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. Belongs to the polycystin family. 9606.ENSP00000289707,SLAMF8,285,SLAM family member 8; May play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor. 9606.ENSP00000289746,CDH15,814,Cadherin-15; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation. 9606.ENSP00000289749,NBL1,216,Neuroblastoma suppressor of tumorigenicity 1; Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process; Belongs to the DAN family. 9606.ENSP00000289753,HTR6,440,"5-hydroxytryptamine receptor 6; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. It has a high affinity for tricyclic psychotropic drugs (By similarity). Controls pyramidal neurons migration during corticogenesis, through the regulation of CDK5 activity (By similarity). Is an activator of TOR signaling." 9606.ENSP00000289788,ZSCAN23,389,Zinc finger and SCAN domain-containing protein 23; May be involved in transcriptional regulation. 9606.ENSP00000289805,SPATA2L,424,Spermatogenesis-associated protein 2-like protein; Spermatogenesis associated 2 like. 9606.ENSP00000289902,FCER1G,86,"High affinity immunoglobulin epsilon receptor subunit gamma; Adapter protein containing an immunoreceptor tyrosine-based activation motif (ITAM) that transduces activation signals from various immunoreceptors. As a component of the high-affinity immunoglobulin E (IgE) receptor, mediates allergic inflammatory signaling in mast cells. As a constitutive component of interleukin-3 receptor complex, selectively mediates interleukin 4/IL4 production by basophils, priming T-cells toward effector T-helper 2 subset. Associates with pattern recognition receptors CLEC4D and CLEC4E to form a funct [...] " 9606.ENSP00000289921,FAM160B2,743,Protein FAM160B2; Family with sequence similarity 160 member B2; Belongs to the UPF0518 family. 9606.ENSP00000289932,SLC5A11,675,"Sodium/myo-inositol cotransporter 2; Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D- chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney; Belongs to the sodium:solute symporter (SSF) (TC 2 [...] " 9606.ENSP00000289957,CHRNB3,458,"Neuronal acetylcholine receptor subunit beta-3; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane." 9606.ENSP00000289968,ARHGAP17,881,"Rho GTPase-activating protein 17; Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent [...] " 9606.ENSP00000289989,C8orf58,365,Uncharacterized protein C8orf58; Chromosome 8 open reading frame 58. 9606.ENSP00000290015,WNT9B,357,"Protein Wnt-9b; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathways that mediate development of kidney tubules and the Muellerian ducts. Pla [...] " 9606.ENSP00000290039,CACHD1,1223,VWFA and cache domain-containing protein 1; May regulate voltage-dependent calcium channels. 9606.ENSP00000290079,TMEM141,108,Transmembrane protein 141. 9606.ENSP00000290122,CELA3A,270,Chymotrypsin-like elastase family member 3A; Efficient protease with alanine specificity but only little elastolytic activity; Belongs to the peptidase S1 family. Elastase subfamily. 9606.ENSP00000290130,MIS18A,233,Protein Mis18-alpha; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. 9606.ENSP00000290155,CFAP298,290,"Cilia- and flagella-associated protein 298; Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity); Belongs to the CFAP298 family." 9606.ENSP00000290158,KPNB1,876,"Importin subunit beta-1; Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic [...] " 9606.ENSP00000290167,WNT4,351,"Protein Wnt-4; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung. Required for normal mesenchyme to epithelium transition during embryonic kidney development. Required for the formation of early epithelial renal vesicles during kidney development (By similarity). Required for normal formation of the Mullerian duct in females, and normal levels of oocytes in the ovaries. Required for normal down-regulation of 3 beta-hydroxysteroid dehydrogenase in the ovary. Req [...] " 9606.ENSP00000290200,IL10RB,325,"Interleukin-10 receptor subunit beta; Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state." 9606.ENSP00000290208,MRPL10,271,Mitochondrial ribosomal protein L10; Belongs to the universal ribosomal protein uL10 family. 9606.ENSP00000290216,SCRN2,425,Secernin-2; Secernin 2; Belongs to the peptidase C69 family. Secernin subfamily. 9606.ENSP00000290231,NCOA5,579,"Nuclear receptor coactivator 5; Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2)." 9606.ENSP00000290246,ELMO2,720,Engulfment and cell motility protein 2; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. 9606.ENSP00000290271,STC1,247,"Stanniocalcin-1; Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia." 9606.ENSP00000290277,ARAF,609,Serine/threonine-protein kinase A-Raf; Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. 9606.ENSP00000290291,OGFR,677,"Opioid growth factor receptor; Receptor for opioid growth factor (OGF), also known as Met- enkephalin. Seems to be involved in growth regulation." 9606.ENSP00000290294,PRAC1,57,PRAC1 small nuclear protein. 9606.ENSP00000290295,HOXB13,284,Homeobox protein Hox-B13; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA. Belongs to the Abd-B homeobox family. 9606.ENSP00000290299,ATP5PO,213,"ATP synthase subunit O, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the centr [...] " 9606.ENSP00000290310,KCNE2,123,Potassium voltage-gated channel subfamily E member 2; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-t [...] 9606.ENSP00000290341,IGF2BP1,577,Insulin-like growth factor 2 mRNA-binding protein 1; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Plays a direct role in the transport and translation of transcripts required for axonal regeneration in adult sensory neurons (By similarity). Regulates localized beta- actin/AC [...] 9606.ENSP00000290349,CBR1,277,"Carbonyl reductase [NADPH] 1; NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2- alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S- nitrosoglutathione." 9606.ENSP00000290354,CBR3,277,Carbonyl reductase [NADPH] 3; Has low NADPH-dependent oxidoreductase activity towards 4- benzoylpyridine and menadione (in vitro). Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000290363,CIART,385,"Circadian-associated transcriptional repressor; Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41. In a histone deacetylase-dependent manner represses the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Abrogates the interaction of ARNTL/BMAL1 with the transcriptional coactivator CREBBP and can repress the histone acetyl-transferase activity of the CLOCK- ARNTL/BMAL1 heterodimer, reducing histone acetylation of its target genes. [...] " 9606.ENSP00000290374,GJD2,321,"Gap junction delta-2 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Delta-type subfamily." 9606.ENSP00000290378,ACTC1,377,"Actin, alpha cardiac muscle 1, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells." 9606.ENSP00000290399,SIM2,667,Single-minded homolog 2; Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development. 9606.ENSP00000290401,NPTN,398,Neuroplastin; Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity). 9606.ENSP00000290418,CCDC142,743,Coiled-coil domain containing 142. 9606.ENSP00000290429,MCAT,390,"Malonyl-CoA-acyl carrier protein transacylase, mitochondrial; Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1). This suggests the existence of the biosynthesis of fatty acids in mitochondria." 9606.ENSP00000290438,GOLGA6A,693,Golgin A6 family member A. 9606.ENSP00000290472,PLA2G4D,818,Cytosolic phospholipase A2 delta; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has a preference for linoleic acid at the sn-2 position. 9606.ENSP00000290524,RFX5,616,DNA-binding protein RFX5; Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters; Belongs to the RFX family. 9606.ENSP00000290536,M1AP,530,Meiosis 1 arrest protein; Required for meiosis I progression during spermatogenesis. 9606.ENSP00000290541,PSMB4,264,"Proteasome subunit beta type-4; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000290551,BTG2,158,Protein BTG2; Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth. Belongs to the BTG family. 9606.ENSP00000290552,IRX6,446,Iroquois-class homeodomain protein IRX-6; Iroquois homeobox 6. 9606.ENSP00000290573,HK2,917,"Hexokinase-2; Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D- fructose 6-phosphate, respectively). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate. Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis. Belongs to the hexokinase family." 9606.ENSP00000290583,CELF3,465,CUGBP Elav-like family member 3; RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. 9606.ENSP00000290607,STARD9,4700,StAR-related lipid transfer protein 9; Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM). 9606.ENSP00000290649,AMFR,643,"E3 ubiquitin-protein ligase AMFR; E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum- associated degradation (ERAD). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into t [...] " 9606.ENSP00000290650,UBR1,1749,"E3 ubiquitin-protein ligase UBR1; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth; Belongs to the UBR1 family." 9606.ENSP00000290663,MED8,301,"Mediator of RNA polymerase II transcription subunit 8; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May play a role as a targ [...] " 9606.ENSP00000290691,RGL4,473,Ral-GDS-related protein; Ral guanine nucleotide dissociation stimulator like 4. 9606.ENSP00000290705,MT1A,61,Metallothionein-1A; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family. 9606.ENSP00000290722,PGLYRP3,341,"Peptidoglycan recognition protein 3; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity; Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family." 9606.ENSP00000290759,ISL2,359,Insulin gene enhancer protein ISL-2; Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways. 9606.ENSP00000290765,GSTT2B,244,Glutathione S-transferase theta-2B; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity. 9606.ENSP00000290776,CPNE2,548,Copine-2; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Exhibits calcium- dependent cell membrane binding properties. Belongs to the copine family. 9606.ENSP00000290866,ACE,1306,"Angiotensin-converting enzyme, soluble form; Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI- anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety; Belongs to the peptidase M2 family." 9606.ENSP00000290871,TEPP,298,"Testis, prostate and placenta expressed." 9606.ENSP00000290881,KIAA0895L,471,Uncharacterized protein KIAA0895-like; KIAA0895 like. 9606.ENSP00000290894,SHF,423,SH2 domain-containing adapter protein F; Adapter protein which may play a role in the regulation of apoptosis in response to PDGF. 9606.ENSP00000290913,CHCHD6,235,"MICOS complex subunit MIC25; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane." 9606.ENSP00000290921,CTBP1,440,C-terminal-binding protein 1; Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation. Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. 9606.ENSP00000290943,ANKRD18B,1011,Ankyrin repeat domain 18B. 9606.ENSP00000290949,ATP6V0D1,351,"V-type proton ATPase subunit d 1; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). In aerobic conditions, involved in intracellular iron homeostasis, thus tri [...] " 9606.ENSP00000290953,AGRP,132,Agouti-related protein; Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner. 9606.ENSP00000290974,ZFYVE28,887,Lateral signaling target protein 2 homolog; Negative regulator of epidermal growth factor receptor (EGFR) signaling. Acts by promoting EGFR degradation in endosomes when not monoubiquitinated; Belongs to the lst-2 family. 9606.ENSP00000291009,PIP,146,Prolactin induced protein; Belongs to the PIP family. 9606.ENSP00000291041,PSKH1,424,Serine/threonine-protein kinase H1; May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing. 9606.ENSP00000291182,ZNF235,738,Zinc finger protein 235; May be involved in transcriptional regulation. 9606.ENSP00000291231,OR3A3,321,Olfactory receptor 3A3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000291232,TNFRSF13C,184,Tumor necrosis factor receptor superfamily member 13C; B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response. 9606.ENSP00000291294,PTGIR,386,Prostacyclin receptor; Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase. 9606.ENSP00000291295,CALM3,149,"Calmodulin-1; Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Mediates calcium-dependent inactivation of CACNA1C. Positively regulates calcium-activated potassium channel activity of KCNN2." 9606.ENSP00000291386,SSU72,194,RNA polymerase II subunit A C-terminal domain phosphatase SSU72; Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK. 9606.ENSP00000291416,TRIM62,475,E3 ubiquitin-protein ligase TRIM62; E3 ubiquitin ligase whose activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2; Belongs to the TRIM/RBCC family. 9606.ENSP00000291442,NR2F6,404,"Nuclear receptor subfamily 2 group F member 6; Transcription factor predominantly involved in transcriptional repression. Binds to promoter/enhancer response elements that contain the imperfect 5'-AGGTCA-3' direct or inverted repeats with various spacings which are also recognized by other nuclear hormone receptors. Involved in modulation of hormonal responses. Represses transcriptional activity of the lutropin- choriogonadotropic hormone receptor/LHCGR gene, the renin/REN gene and the oxytocin-neurophysin/OXT gene. Represses the triiodothyronine- dependent and -independent transcripti [...] " 9606.ENSP00000291458,CCDC58,144,Coiled-coil domain containing 58; Belongs to the CCDC58 family. 9606.ENSP00000291481,HAPLN4,402,Hyaluronan and proteoglycan link protein 4; Binds to hyaluronic acid and may be involved in formation of the extracellular matrix. 9606.ENSP00000291495,CILP2,1156,Cartilage intermediate layer protein 2 C1; May play a role in cartilage scaffolding. 9606.ENSP00000291526,TFF2,129,"Trefoil factor 2; Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains (By similarity)." 9606.ENSP00000291527,TFF1,84,Trefoil factor 1; Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine. 9606.ENSP00000291536,RSPH1,309,Radial spoke head 1 homolog; May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes. 9606.ENSP00000291539,PDE9A,593,"High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A; Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP. Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart. Additional experiments are required to confirm whether its abi [...] " 9606.ENSP00000291547,PKNOX1,436,Homeobox protein PKNOX1; Activates transcription in the presence of PBX1A and HOXA1. 9606.ENSP00000291552,U2AF1,240,Splicing factor U2AF 35 kDa subunit; Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. 9606.ENSP00000291554,CRYAA,173,"Alpha-crystallin A2(1-162); Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Belongs to the small heat shock protein (HSP20) family." 9606.ENSP00000291560,HSF2BP,334,"Heat shock factor 2-binding protein; May be involved in modulating HSF2 activation in testis. Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm (By similarity)." 9606.ENSP00000291565,PDXK,312,Pyridoxal kinase; Required for synthesis of pyridoxal-5-phosphate from vitamin B6; Belongs to the pyridoxine kinase family. 9606.ENSP00000291568,CSTB,98,"Cystatin-B; This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B; Belongs to the cystatin family." 9606.ENSP00000291572,AGPAT3,376,"1-acyl-sn-glycerol-3-phosphate acyltransferase gamma; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor. Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA. Has a preference for arachidonoyl-CoA as a donor (By similarit [...] " 9606.ENSP00000291574,TRAPPC10,1259,Trafficking protein particle complex subunit 10; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TMEM1 family. 9606.ENSP00000291576,PWP2,919,Periodic tryptophan protein 2 homolog; PWP2 small subunit processome component. 9606.ENSP00000291577,GATD3A,268,"Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial; Glutamine amidotransferase like class 1 domain containing 3A; Belongs to the GATD3 family." 9606.ENSP00000291582,AIRE,545,"Autoimmune regulator; Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue- restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'- ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not ph [...] " 9606.ENSP00000291592,LRRC3,257,Leucine-rich repeat-containing protein 3; Leucine rich repeat containing 3. 9606.ENSP00000291634,FAM207A,230,Protein FAM207A; Family with sequence similarity 207 member A. 9606.ENSP00000291672,SPATC1L,340,Speriolin-like protein; Spermatogenesis and centriole associated 1 like. 9606.ENSP00000291688,MCM3AP,1980,"Germinal-center associated nuclear protein; [Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores. Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations. Belongs to the SAC3 family." 9606.ENSP00000291691,C21orf58,322,Uncharacterized protein C21orf58; Chromosome 21 open reading frame 58. 9606.ENSP00000291700,S100B,92,"Protein S100-B; Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling. Could assist ATAD3A cytoplasmic pr [...] " 9606.ENSP00000291707,SIGLEC12,595,Sialic acid-binding Ig-like lectin 12; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. 9606.ENSP00000291715,CLDND2,167,Claudin domain containing 2. 9606.ENSP00000291744,FCN2,313,"Ficolin-2; May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc-binding lectin. Enhances phagocytosis of S.typhimurium by neutrophils, suggesting an opsonic effect via the collagen region." 9606.ENSP00000291759,LILRA4,499,"Leukocyte immunoglobulin-like receptor subfamily A member 4; Functions coreceptor to limit the innate immune responses to viral infections; signaling occurs via FCER1G. Down-regulates the production of IFNA1, IFNA2, IFNA4, IFNB1 and TNF by plasmacytoid dendritic cells that have been exposed to influenza virus or cytidine-phosphate-guanosine (CpG) dinucleotides, indicating it functions as negative regulator of TLR7 and TLR9 signaling cascades. Down-regulates interferon production in response to interaction with BST2 on HIV-1 infected cells. Activates a signaling cascade in complex with [...] " 9606.ENSP00000291823,HIPK4,616,"Homeodomain-interacting protein kinase 4; Protein kinase that phosphorylates human TP53 at Ser-9, and thus induces TP53 repression of BIRC5 promoter (By similarity). May act as a corepressor of transcription factors (Potential); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily." 9606.ENSP00000291842,SHKBP1,707,SH3KBP1-binding protein 1; Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation. Belongs to the KCTD3 family. 9606.ENSP00000291860,KIR3DL3,410,Killer cell immunoglobulin-like receptor 3DL3; Receptor on natural killer cells. May inhibit the activity of NK cells thus preventing cell lysis. 9606.ENSP00000291890,NCR1,304,Natural cytotoxicity triggering receptor 1; Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis. 9606.ENSP00000291900,ZER1,766,Protein zer-1 homolog; Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts redudantly with ZYG11B to target substrates bearing N-terminal glycine degrons for proteasomal degradation. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation. 9606.ENSP00000291906,PKN3,889,Serine/threonine-protein kinase N3; Contributes to invasiveness in malignant prostate cancer. 9606.ENSP00000291934,TMEM190,177,Transmembrane protein 190. 9606.ENSP00000291971,NLRP8,1048,"NACHT, LRR and PYD domains-containing protein 8; Involved in inflammation." 9606.ENSP00000292035,MED27,311,"Mediator of RNA polymerase II transcription subunit 27; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000292079,FXYD2,66,Sodium/potassium-transporting ATPase subunit gamma; May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase; Belongs to the FXYD family. 9606.ENSP00000292090,TLCD1,247,TLC domain-containing protein 1; Regulates the composition and fluidity of the plasma membrane. Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity. Does not appear to have any effect on LCPUFA synthesis. 9606.ENSP00000292114,TMEM199,208,"Transmembrane protein 199; Accessory component of the proton-transporting vacuolar (V)- ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation. May be involved in Golgi homeostasis." 9606.ENSP00000292125,PSG6,435,Pregnancy specific beta-1-glycoprotein 6. 9606.ENSP00000292140,PHLDB3,640,Pleckstrin homology like domain family B member 3. 9606.ENSP00000292147,ETHE1,254,"Persulfide dioxygenase ETHE1, mitochondrial; Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic [...] " 9606.ENSP00000292169,S100A1,94,"Protein S100-A1; Probably acts as a Ca(2+) signal transducer. In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change. This conformational change allows interaction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity. Belongs to the S-100 family." 9606.ENSP00000292174,CXCR5,372,C-X-C chemokine receptor type 5; Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation. 9606.ENSP00000292180,FLAD1,587,Molybdenum cofactor biosynthesis protein-like region; Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily. 9606.ENSP00000292211,UBE2Q1,422,"Ubiquitin-conjugating enzyme E2 Q1; Catalyzes the covalent attachment of ubiquitin to other proteins. May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation (By similarity)." 9606.ENSP00000292246,ANO10,660,Anoctamin-10; Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. Belongs to the anoctamin family. 9606.ENSP00000292301,CCR2,374,"C-C chemokine receptor type 2; Key functional receptor for CCL2 but can also bind CCL7 and CCL12. Its binding with CCL2 on monocytes and macrophages mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion (Probable). Also acts as a receptor for the beta-defensin DEFB106A/DEFB106B. Regulates the expression of T-cell inflammatory cytokines and T-cell differentiation, promoting the differentiation of T-cells into T-helper 17 cells (Th17) during inflammation (By similarity). Facilitates the export of matur [...] " 9606.ENSP00000292303,CCR5,352,"C-C chemokine receptor type 5; Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation." 9606.ENSP00000292314,CCDC12,179,Coiled-coil domain containing 12. 9606.ENSP00000292330,PPP1R35,253,Protein phosphatase 1 regulatory subunit 35; Inhibits PPP1CA phosphatase activity. Belongs to the PPP1R35 family. 9606.ENSP00000292363,RNF126,311,"E3 ubiquitin-protein ligase RNF126; E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins. Depending on the associated E2 ligase, mediates 'Lys-48'- and 'Lys-63'- linked polyubiquitination of substrates (By similarity). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their targe [...] " 9606.ENSP00000292377,GPC2,579,Secreted glypican-2; Cell surface proteoglycan that bears heparan sulfate. May fulfill a function related to the motile behaviors of developing neurons (By similarity); Belongs to the glypican family. 9606.ENSP00000292401,AZGP1,298,Zinc-alpha-2-glycoprotein; Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids; Belongs to the MHC class I family. 9606.ENSP00000292408,FGFR4,802,"Fibroblast growth factor receptor 4; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down- regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation o [...] " 9606.ENSP00000292427,CYP11B1,503,"Cytochrome P450 11B1, mitochondrial; A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11- deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) [...] " 9606.ENSP00000292430,LY6K,165,Lymphocyte antigen 6K; Required for sperm migration into the oviduct and male fertility by controlling binding of sperm to zona pellucida (By similarity). May play a role in cell growth. 9606.ENSP00000292431,NACC1,527,"Nucleus accumbens-associated protein 1; Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines." 9606.ENSP00000292432,HK3,923,"Hexokinase-3; Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D- fructose 6-phosphate, respectively). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate. Belongs to the hexokinase family." 9606.ENSP00000292450,ZSCAN21,473,Zinc finger and SCAN domain-containing protein 21; Strong transcriptional activator. 9606.ENSP00000292475,ATP5MF,94,"ATP synthase subunit f, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the centr [...] " 9606.ENSP00000292476,CPSF4,269,"Cleavage and polyadenylation specificity factor subunit 4; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U)." 9606.ENSP00000292478,PTCD1,700,"Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria- encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs; Belongs to the PTCD1 family." 9606.ENSP00000292513,PTGER1,402,Prostaglandin E2 receptor EP1 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000292524,LRRC14,493,Leucine-rich repeat-containing protein 14; Negatively regulates Toll-like receptor-mediated NF-kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB; Belongs to the PRAME family. LRRC14 subfamily. 9606.ENSP00000292530,ZNF333,665,Zinc finger protein 333; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000292539,PPP1R16A,528,"Protein phosphatase 1 regulatory subunit 16A; Inhibits protein phosphatase 1 activity toward phosphorylase, myosin light chain and myosin substrates." 9606.ENSP00000292562,ZNF251,671,Zinc finger protein 251; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000292566,ALKBH4,302,"Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4; Dioxygenase that mediates demethylation of actin monomethylated at 'Lys-84' (K84me1), thereby acting as a regulator of actomyosin-processes. Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. In addition to proteins, also demethylates DNA: specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA, thereby regulating Polycomb silencing (By similarity)." 9606.ENSP00000292574,CCDC105,499,Coiled-coil domain containing 105. 9606.ENSP00000292579,ZNF250,560,Zinc finger protein 250; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000292586,MRNIP,343,MRN complex-interacting protein; Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex. Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair. 9606.ENSP00000292596,LTC4S,150,Leukotriene C4 synthase; Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4. 9606.ENSP00000292599,MAML1,1016,Mastermind-like protein 1; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. Belongs to the mastermind family. 9606.ENSP00000292609,PGLYRP2,634,N-acetylmuramoyl-L-alanine amidase; May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity; Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. 9606.ENSP00000292614,POLR2J,117,DNA-directed RNA polymerase II subunit RPB11-a; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). 9606.ENSP00000292616,LRWD1,647,"Leucine-rich repeat and WD repeat-containing protein 1; Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post- replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability." 9606.ENSP00000292641,SCGB3A1,104,Secretoglobin family 3A member 1; Secreted cytokine-like protein. Inhibits cell growth in vitro; Belongs to the secretoglobin family. UGRP subfamily. 9606.ENSP00000292672,CELF5,485,CUGBP Elav-like family member 5; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. 9606.ENSP00000292778,YDJC,323,Carbohydrate deacetylase; Probably catalyzes the deacetylation of acetylated carbohydrates an important step in the degradation of oligosaccharides. Belongs to the YdjC deacetylase family. 9606.ENSP00000292779,CCDC116,613,Coiled-coil domain containing 116. 9606.ENSP00000292782,DCUN1D1,259,"DCN1-like protein 1; Part of an E3 ubiquitin ligase complex for neddylation. Promotes neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes. Acts by binding to cullin-RBX1 complexes in the cytoplasm and promoting their nuclear translocation, enhancing recruitment of E2-NEDD8 (UBE2M-NEDD8) thioester to the complex, and optimizing the orientation of proteins in the complex to allow efficient transfer of NEDD8 from the E2 to the cullin substrates. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity. Acts also [...] " 9606.ENSP00000292823,PCYT1A,367,Choline-phosphate cytidylyltransferase A; Controls phosphatidylcholine synthesis; Belongs to the cytidylyltransferase family. 9606.ENSP00000292841,ZNF585A,769,Zinc finger protein 585A; May be involved in transcriptional regulation. 9606.ENSP00000292852,FBXO17,278,"F-box only protein 17; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides. Also recognizes sulfated glycans. Does not bind high- mannose glycoproteins." 9606.ENSP00000292853,FBXO27,283,"F-box only protein 27; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides." 9606.ENSP00000292879,U2AF1L4,202,C3H1-type domain-containing protein; U2 small nuclear RNA auxiliary factor 1 like 4. 9606.ENSP00000292894,THAP8,274,THAP domain containing 8. 9606.ENSP00000292896,HBE1,147,Hemoglobin subunit epsilon; The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin; Belongs to the globin family. 9606.ENSP00000292907,COX7A1,79,"Cytochrome c oxidase subunit 7A1, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembran [...] " 9606.ENSP00000292928,ZNF382,550,Zinc finger protein 382; Functions as a sequence-specific transcriptional repressor. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000293190,GRIN2C,1233,"Glutamate receptor ionotropic, NMDA 2C; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activit [...] " 9606.ENSP00000293217,ACOX1,660,"Peroxisomal acyl-CoA oxidase 1, A chain; Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA." 9606.ENSP00000293230,CYGB,190,Cytoglobin; May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer. 9606.ENSP00000293255,CABP5,173,Calcium-binding protein 5; Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials (By similarity). Involved in the transmission of light signals (By similarity). May positively regulate neurotransmitter vesicle endocytosis and exocytosis in a salt-dependent manner (By similarity). May play a role in the extension and network organization of neurites (By similarity). 9606.ENSP00000293261,TMEM143,459,Transmembrane protein 143. 9606.ENSP00000293288,BAX,218,"Apoptosis regulator BAX; Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis." 9606.ENSP00000293303,KLHL10,608,Kelch-like protein 10; May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis. 9606.ENSP00000293328,STAT5B,787,Signal transducer and activator of transcription 5B; Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation. 9606.ENSP00000293330,HCRT,131,"Orexin-A; Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high affinity, whereas orexin-B binds only to OX2R with a similar high affinity." 9606.ENSP00000293350,ALDH16A1,802,Aldehyde dehydrogenase 16 family member A1. 9606.ENSP00000293362,PSME3,267,"Proteasome activator complex subunit 3; Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regul [...] " 9606.ENSP00000293373,NCKAP1L,1127,"Nck-associated protein 1-like; Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages. Component of the WAVE2 complex which signals downstream of RAC to stimulate F-actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating [...] " 9606.ENSP00000293379,ITGA5,1049,Integrin alpha-5 heavy chain; Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1. ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1. ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling. ITGA5:ITGB3 is a receptor for soluble CD [...] 9606.ENSP00000293404,NAGS,534,"N-acetylglutamate synthase conserved domain form; Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity. Belongs to the acetyltransferase family." 9606.ENSP00000293405,IZUMO2,221,Izumo sperm-egg fusion protein 2; IZUMO family member 2. 9606.ENSP00000293414,ASB16,453,Ankyrin repeat and SOCS box protein 16; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000293441,SHANK1,2161,"SH3 and multiple ankyrin repeat domains protein 1; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction; Belongs to the SHANK family." 9606.ENSP00000293443,FAM171A2,826,Protein FAM171A2; Family with sequence similarity 171 member A2. 9606.ENSP00000293471,ZNF613,617,Zinc finger protein 613; May be involved in transcriptional regulation. 9606.ENSP00000293502,SDR9C7,313,Short-chain dehydrogenase/reductase family 9C member 7; Displays weak conversion of all-trans-retinal to all-trans- retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000293549,WNT1,370,"Proto-oncogene Wnt-1; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis." 9606.ENSP00000293599,AQP5,265,"Aquaporin-5; Forms a water-specific channel. Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells. Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity)." 9606.ENSP00000293604,C6orf136,496,Uncharacterized protein C6orf136; Chromosome 6 open reading frame 136. 9606.ENSP00000293636,CELA1,258,Chymotrypsin-like elastase family member 1; Acts upon elastin. 9606.ENSP00000293662,GRASP,395,General receptor for phosphoinositides 1-associated scaffold protein; Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses. 9606.ENSP00000293670,KRT83,493,"Keratin, type II cuticular Hb3; Keratin 83; Belongs to the intermediate filament family." 9606.ENSP00000293695,SYCE2,218,"Synaptonemal complex central element protein 2; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity). Belongs to the SYCE family." 9606.ENSP00000293725,ZNF563,476,Zinc finger protein 563; May be involved in transcriptional regulation. 9606.ENSP00000293745,KRT72,511,"Keratin, type II cytoskeletal 72; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)." 9606.ENSP00000293756,IP6K3,410,"Inositol hexakisphosphate kinase 3; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Belongs to the inositol phosphokinase (IPK) family." 9606.ENSP00000293760,LEMD2,503,LEM domain-containing protein 2; Involved in nuclear structure organization. Required for maintaining the integrity of the nuclear envelope. 9606.ENSP00000293761,ALOX15,662,Arachidonate 15-lipoxygenase; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid into 12-hydroperoxyeicosatetraenoic acid/12- HPETE and 15-hydroperoxyeicosatetraenoic acid/15-HPETE. Also converts linoleic acid to 13-hydroperoxyoctadecadienoic acid. May also act on (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE to produce hepoxilin A3. Probably plays an important role in the immune and inflammatory responses. Through the o [...] 9606.ENSP00000293771,ZNF653,615,"Zinc finger protein 653; Transcriptional repressor. May repress NR5A1, PPARG, NR1H3, NR4A2, ESR1 and NR3C1 transcriptional activity. Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000293777,MED11,117,"Mediator of RNA polymerase II transcription subunit 11; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000293778,CXCL16,273,"C-X-C motif chemokine 16; Acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (By similarity). Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo; Belongs to the intercrine alpha (chemokine CxC) family." 9606.ENSP00000293805,BCL6B,479,B-cell CLL/lymphoma 6 member B protein; Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development. 9606.ENSP00000293825,TNFSF12,249,"Tumor necrosis factor ligand superfamily member 12, membrane form; Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion; Belongs to the tumor necrosis factor family." 9606.ENSP00000293826,ENSP00000293826,330,TNFSF12-TNFSF13 readthrough; Belongs to the tumor necrosis factor family. 9606.ENSP00000293829,FGF11,225,Fibroblast growth factor 11; Probably involved in nervous system development and function; Belongs to the heparin-binding growth factors family. 9606.ENSP00000293831,EIF4A1,406,"Eukaryotic initiation factor 4A-I; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon." 9606.ENSP00000293845,CCDC42,316,Coiled-coil domain-containing protein 42; Required for sperm development. 9606.ENSP00000293851,PRSS33,280,"Serine protease 33; Serine protease that has amidolytic activity, cleaving its substrates before Arg residues." 9606.ENSP00000293860,POLR3K,108,"DNA-directed RNA polymerase III subunit RPC10; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non- self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus- [...] " 9606.ENSP00000293872,LUC7L,371,Putative RNA-binding protein Luc7-like 1; May bind to RNA via its Arg/Ser-rich domain. 9606.ENSP00000293879,WDR90,1748,WD repeat-containing protein 90; Required for efficient primary cilium formation. 9606.ENSP00000293883,WDR24,790,"GATOR complex protein WDR24; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1. In addition to its role in regulation of the TORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux. Belongs to the WD repeat WDR24 family." 9606.ENSP00000293889,CCDC78,438,"Coiled-coil domain-containing protein 78; Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome." 9606.ENSP00000293894,SOX8,446,"Transcription factor SOX-8; May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity)." 9606.ENSP00000293897,SSTR5,364,Somatostatin receptor type 5; Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerization. 9606.ENSP00000293973,NTN3,580,Netrin-3; Netrins control guidance of CNS commissural axons and peripheral motor axons. 9606.ENSP00000294008,SLX4,1834,"Structure-specific endonuclease subunit SLX4; Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1- SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts [...] " 9606.ENSP00000294016,ADCY9,1353,"Adenylate cyclase type 9; Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors. Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors." 9606.ENSP00000294053,CLPB,707,Caseinolytic peptidase B protein homolog; May function as a regulatory ATPase and be related to secretion/protein trafficking process. 9606.ENSP00000294064,NEU3,461,Sialidase-3; Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates. Belongs to the glycosyl hydrolase 33 family. 9606.ENSP00000294066,MAP4K2,820,"Mitogen-activated protein kinase kinase kinase kinase 2; Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6- dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides [...] " 9606.ENSP00000294117,GNG3,75,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000294119,UBXN1,312,"UBX domain-containing protein 1; Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling. Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibi [...] " 9606.ENSP00000294129,NCKIPSD,722,"NCK-interacting protein with SH3 domain; Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis." 9606.ENSP00000294168,TAF6L,622,"TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF5L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state. Fun [...] " 9606.ENSP00000294179,STX5,355,"Syntaxin-5; Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter- connected structure of the Golgi apparatus." 9606.ENSP00000294189,RPL29,159,60S ribosomal protein L29; Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL29 family. 9606.ENSP00000294244,SPINDOC,381,"Spindlin interactor and repressor of chromatin-binding protein; Negatively regulates the transcriptional activator activity of SPIN1 via inhibition of its histone methyl-binding ability. Represses the expression of a number of SPIN1-regulated genes and the SPIN1-mediated activation of the Wnt signaling pathway. Can also inhibit the histone methyl-binding abilities of SPIN2A, SPIN2B, SPIN3 and SPIN4." 9606.ENSP00000294258,ZFPL1,310,"Zinc finger protein-like 1; Required for cis-Golgi integrity and efficient ER to Golgi transport. Involved in the maintenance of the integrity of the cis- Golgi, possibly via its interaction with GOLGA2/GM130. Belongs to the ZFPL1 family." 9606.ENSP00000294288,CABP2,220,"Calcium-binding protein 2; Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs. Required for the normal transfer of light signals through the retina (By similarity)." 9606.ENSP00000294304,LRP5,1615,"Low-density lipoprotein receptor-related protein 5; Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration. In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone [...] " 9606.ENSP00000294309,TPCN2,752,Two pore calcium channel protein 2; Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily. 9606.ENSP00000294312,FGF19,216,"Fibroblast growth factor 19; Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4. Belongs to the heparin-binding growth factors family." 9606.ENSP00000294338,PDZK1IP1,114,PDZK1-interacting protein 1; May play an important role in tumor biology. 9606.ENSP00000294339,TAL1,331,T-cell acute lymphocytic leukemia protein 1; Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity). 9606.ENSP00000294353,ZYG11B,744,Protein zyg-11 homolog B; Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts redudantly with ZER1 to target substrates bearing N-terminal glycine degrons for proteasomal degradation. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N- myristoylation. 9606.ENSP00000294360,CZIB,160,CXXC motif containing zinc binding protein; Belongs to the UPF0587 family. 9606.ENSP00000294383,USP24,2620,"Ubiquitin carboxyl-terminal hydrolase 24; Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53. Plays a positive role on ferritinophagy where ferritin is degraded in lysosomes and releases free iron." 9606.ENSP00000294409,GMEB1,573,Glucocorticoid modulatory element-binding protein 1; Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses. 9606.ENSP00000294413,RHCE,417,Blood group Rh(CE) polypeptide; May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. 9606.ENSP00000294435,RBP7,134,Retinoid-binding protein 7; Intracellular transport of retinol. 9606.ENSP00000294454,SLC25A34,304,Solute carrier family 25 member 34. 9606.ENSP00000294484,DISP3,1392,Protein dispatched homolog 3; Plays a role in neuronal proliferation and differentiation. Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation. May contribute to cholesterol homeostasis in neuronal cells (By similarity). 9606.ENSP00000294485,DRAXIN,349,"Draxin; Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta-catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway; Belongs to the draxin family." 9606.ENSP00000294489,PDPN,238,"29kDa cytosolic podoplanin intracellular domain; Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation. Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN. Through MSN or EZR interaction promotes epithelial- mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and inv [...] " 9606.ENSP00000294507,LAPTM5,262,Lysosomal-associated transmembrane protein 5; May have a special functional role during embryogenesis and in adult hematopoietic cells; Belongs to the LAPTM4/LAPTM5 transporter family. 9606.ENSP00000294543,TMCO4,634,Transmembrane and coiled-coil domains 4; Belongs to the TMCO4 family. 9606.ENSP00000294600,CCDC27,656,Coiled-coil domain containing 27. 9606.ENSP00000294618,DOCK6,2047,"Dedicator of cytokinesis protein 6; Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity)." 9606.ENSP00000294635,LRRC53,1247,Leucine-rich repeat-containing protein 53; Leucine rich repeat containing 53. 9606.ENSP00000294638,LHX8,356,LIM/homeobox protein Lhx8; Transcription factor involved in differentiation of certain neurons and mesenchymal cells. 9606.ENSP00000294664,WDR63,891,WD repeat-containing protein 63. 9606.ENSP00000294671,GBP7,638,"Guanylate-binding protein 7; Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Promotes oxidative killing and delivers antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity); Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily." 9606.ENSP00000294702,GFI1,422,"Zinc finger protein Gfi-1; Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. [...] " 9606.ENSP00000294724,AGL,1532,"Amylo-alpha-1,6-glucosidase; Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4- alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation." 9606.ENSP00000294725,KCNT2,1135,"Potassium channel subfamily T member 2; Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRM1." 9606.ENSP00000294728,VCAM1,739,"Vascular cell adhesion protein 1; Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with integrin alpha- 4/beta-1 (ITGA4/ITGB1) on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/ITGA4/ITGB1 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation." 9606.ENSP00000294740,ZNF281,895,"Zinc finger protein 281; Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes." 9606.ENSP00000294742,ARPC5,154,"Actin-related protein 2/3 complex subunit 5; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA [...] " 9606.ENSP00000294753,ZNF496,587,Zinc finger protein 496; DNA-binding transcription factor that can both act as an activator and a repressor; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000294785,NCSTN,709,"Nicastrin; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels." 9606.ENSP00000294811,C1orf74,269,UPF0739 protein C1orf74; Chromosome 1 open reading frame 74; Belongs to the UPF0739 family. 9606.ENSP00000294818,LRRC52,313,"Leucine-rich repeat-containing protein 52; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties." 9606.ENSP00000294829,FAM71A,594,Protein FAM71A; Family with sequence similarity 71 member A; Belongs to the FAM71 family. 9606.ENSP00000294889,C1orf115,142,Uncharacterized protein C1orf115; Chromosome 1 open reading frame 115. 9606.ENSP00000294904,RBMS1,406,"RNA-binding motif, single-stranded-interacting protein 1; Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication." 9606.ENSP00000294952,PPP1R21,780,Protein phosphatase 1 regulatory subunit 21; Putative regulator of protein phosphatase 1 (PP1) activity. May play a role in the endosomal sorting process or in endosome maturation pathway. 9606.ENSP00000294954,LHCGR,699,Lutropin-choriogonadotropic hormone receptor; Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. 9606.ENSP00000294964,PKDCC,493,"Extracellular tyrosine-protein kinase PKDCC; Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29. Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation. May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation [...] " 9606.ENSP00000294973,HAAO,286,"3-hydroxyanthranilate 3,4-dioxygenase; Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate." 9606.ENSP00000295006,CAPN2,700,"Calpain-2 catalytic subunit; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at 'Arg-226'. Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity)." 9606.ENSP00000295025,REL,619,"Proto-oncogene c-Rel; Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferen [...] " 9606.ENSP00000295030,PEX13,403,Peroxisomal membrane protein PEX13; Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins. 9606.ENSP00000295049,RFTN2,501,"Raftlin-2; Upon bacterial lipopolysaccharide stimulation, mediates clathrin-dependent internalization of TLR4 in dendritic cells, resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production. May regulate B-cell antigen receptor-mediated signaling; Belongs to the raftlin family." 9606.ENSP00000295050,SPRTN,489,"SprT-like domain-containing protein Spartan; Regulator of UV-induced DNA damage response: acts as a 'reader' of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to [...] " 9606.ENSP00000295055,CAPN13,669,Calpain-13; Probable non-lysosomal thiol-protease. 9606.ENSP00000295057,LRRTM1,522,"Leucine-rich repeat transmembrane neuronal protein 1; Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level; Belongs to the LRRTM family." 9606.ENSP00000295065,MEMO1,297,"Protein MEMO1; May control cell migration by relaying extracellular chemotactic signals to the microtubule cytoskeleton. Mediator of ERBB2 signaling. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Is required for breast carcinoma cell migration." 9606.ENSP00000295079,MAIP1,291,"m-AAA protease-interacting protein 1, mitochondrial; Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation. Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB)." 9606.ENSP00000295082,KCNF1,494,Potassium voltage-gated channel subfamily F member 1; Putative voltage-gated potassium channel. 9606.ENSP00000295083,SLC66A3,202,Solute carrier family 66 member 3. 9606.ENSP00000295087,ARL5A,179,ADP-ribosylation factor-like protein 5A; Lacks ADP-ribosylation enhancing activity; Belongs to the small GTPase superfamily. Arf family. 9606.ENSP00000295092,LRATD1,292,Protein LRATD1; May play a role in cell morphology and motility. Belongs to the LRATD family. 9606.ENSP00000295095,ARHGAP15,475,Rho GTPase-activating protein 15; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction. 9606.ENSP00000295101,KCNJ3,501,"G protein-activated inward rectifier potassium channel 1; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating t [...] " 9606.ENSP00000295108,NEUROD1,356,"Neurogenic differentiation factor 1; Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or [...] " 9606.ENSP00000295113,FRZB,325,Secreted frizzled-related protein 3; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development. 9606.ENSP00000295119,NUP35,326,"Nucleoporin NUP35; Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs), can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC." 9606.ENSP00000295121,WDR92,357,WD repeat-containing protein 92; Seems to act as a modulator of apoptosis. 9606.ENSP00000295124,CCDC138,665,Coiled-coil domain containing 138. 9606.ENSP00000295131,ZSWIM2,633,"E3 ubiquitin-protein ligase ZSWIM2; E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes." 9606.ENSP00000295148,WDCP,721,WD repeat and coiled coil containing. 9606.ENSP00000295150,FAM228A,206,Protein FAM228A; Family with sequence similarity 228 member A; Belongs to the FAM228 family. 9606.ENSP00000295171,CCDC74A,378,Coiled-coil domain containing 74A. 9606.ENSP00000295190,SLC16A14,510,Monocarboxylate transporter 14; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. 9606.ENSP00000295201,TEKT4,435,Tektin-4; May be a structural component of the sperm flagellum. Contributes to normal sperm motility; Belongs to the tektin family. 9606.ENSP00000295206,EN1,392,Homeobox protein engrailed-1; Engrailed homeobox 1. 9606.ENSP00000295208,ZNF514,400,Zinc finger protein 514; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000295213,SPATA18,538,"Mitochondria-eating protein; Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade [...] " 9606.ENSP00000295225,KCNIP3,256,Calsenilin; Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity). May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of amyloid-beta formation. 9606.ENSP00000295226,CCDC140,163,Coiled-coil domain-containing protein 140; CCDC140 long non-coding RNA. 9606.ENSP00000295228,INHBB,407,"Inhibin beta B chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins." 9606.ENSP00000295240,BBS5,341,"Bardet-Biedl syndrome 5 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] " 9606.ENSP00000295256,HPGDS,199,"Hematopoietic prostaglandin D synthase; Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide. Belongs to the GST superfamily. Sigma family." 9606.ENSP00000295266,PDHA2,388,"Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle." 9606.ENSP00000295268,STPG2,459,Sperm-tail PG-rich repeat-containing protein 2; Sperm tail PG-rich repeat containing 2. 9606.ENSP00000295269,SLC9A4,798,Sodium/hydrogen exchanger 4; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained int [...] 9606.ENSP00000295297,C1QTNF7,296,Complement C1q tumor necrosis factor-related protein 7; C1q and TNF related 7. 9606.ENSP00000295304,CHAC2,184,"Glutathione-specific gamma-glutamylcyclotransferase 2; Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides." 9606.ENSP00000295314,TMOD4,345,"Tropomodulin-4; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton." 9606.ENSP00000295317,RNF149,400,"E3 ubiquitin-protein ligase RNF149; E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation." 9606.ENSP00000295321,IWS1,819,"Protein IWS1 homolog; Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) [...] " 9606.ENSP00000295379,BMP10,424,"Bone morphogenetic protein 10; Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines." 9606.ENSP00000295408,MERTK,999,"Tyrosine-protein kinase Mer; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation [...] " 9606.ENSP00000295414,CCNYL1,359,Cyclin-Y-like protein 1; Cyclin Y like 1; Belongs to the cyclin family. Cyclin Y subfamily. 9606.ENSP00000295448,GNPDA2,276,Glucosamine-6-phosphate deaminase 2. 9606.ENSP00000295452,GABRG1,465,"Gamma-aminobutyric acid receptor subunit gamma-1; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000295453,ALPG,532,"Alkaline phosphatase, germ cell." 9606.ENSP00000295454,GABRB1,474,"Gamma-aminobutyric acid receptor subunit beta-1; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel." 9606.ENSP00000295461,NIPAL1,410,"Magnesium transporter NIPA3; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). Belongs to the NIPA family." 9606.ENSP00000295463,ALPI,528,"Alkaline phosphatase, intestinal." 9606.ENSP00000295488,HELQ,1101,Helicase POLQ-like; Single-stranded DNA-dependent ATPase and 5' to 3' DNA helicase. Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2- mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links. Belongs to the helicase family. SKI2 subfamily. 9606.ENSP00000295491,MRPS18C,142,Mitochondrial ribosomal protein S18C. 9606.ENSP00000295522,CLDN1,211,"Claudin-1; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. [...] " 9606.ENSP00000295542,DCST1,706,E3 ubiquitin-protein ligase DCST1; E3 ubiquitin-protein ligase which mediates 'Lys-48'-linked ubiquitination of STAT2 and induces its proteosomal degradation thereby negatively regulating type-I-interferon signaling. 9606.ENSP00000295550,COL6A3,3177,Collagen alpha-3(VI) chain; Collagen VI acts as a cell-binding protein. 9606.ENSP00000295569,TAFA4,140,"Chemokine-like protein TAFA-4; Modulates injury-induced and chemical pain hypersensitivity (By similarity). Ligand of FPR1, can chemoattract macrophages, promote phagocytosis and increase ROS release. Belongs to the TAFA family." 9606.ENSP00000295588,POGLUT1,392,"Protein O-glucosyltransferase 1; Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C- X-S-X-P-C. Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2. Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development. Notch glucosylation does not affect Notch ligand binding. Required during early development to promote gastrulation: acts by mediating O-g [...] " 9606.ENSP00000295589,CCKAR,428,"Cholecystokinin receptor type A; Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system." 9606.ENSP00000295619,PROK2,129,Prokineticin-2; May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle; Belongs to the AVIT (prokineticin) family. 9606.ENSP00000295622,TEX55,536,Testis expressed 55. 9606.ENSP00000295628,LRRC58,371,Leucine-rich repeat-containing protein 58; Leucine rich repeat containing 58. 9606.ENSP00000295633,FSTL1,308,Follistatin-related protein 1; May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity). 9606.ENSP00000295640,RNPEP,650,"Aminopeptidase B; Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(-1)-Lys(0)- somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity)." 9606.ENSP00000295645,PDCL2,241,Phosducin-like protein 2; May play a role in germ cell maturation; Belongs to the phosducin family. 9606.ENSP00000295666,IGFBP7,282,Insulin-like growth factor-binding protein 7; Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. 9606.ENSP00000295682,KRTCAP2,162,"Keratinocyte-associated protein 2; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits [...] " 9606.ENSP00000295683,CXCR1,350,"C-X-C chemokine receptor type 1; Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity." 9606.ENSP00000295685,ARPC2,300,"Actin-related protein 2/3 complex subunit 2; Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the mother actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promot [...] " 9606.ENSP00000295688,CCT3,545,"T-complex protein 1 subunit gamma; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000295694,TMEM79,394,Transmembrane protein 79; Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity). 9606.ENSP00000295702,SSR2,183,Translocon-associated protein subunit beta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins; Belongs to the TRAP-beta family. 9606.ENSP00000295704,RNF25,459,E3 ubiquitin-protein ligase RNF25; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NKD2 (By similarity). Stimulates transcription mediated by NF-kappa-B. 9606.ENSP00000295709,STK36,1315,"Serine/threonine-protein kinase 36; Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors. Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization. GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur. Required for postnatal development, possibly by regulating the homeostasis of c [...] " 9606.ENSP00000295718,PTPRN,979,"Receptor-type tyrosine-protein phosphatase-like N; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin- containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulatio [...] " 9606.ENSP00000295727,FEV,238,Protein FEV; Functions as a transcriptional regulator. According to it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth. 9606.ENSP00000295728,CRYBA2,197,Beta-crystallin A2; Crystallins are the dominant structural components of the vertebrate eye lens. 9606.ENSP00000295731,IHH,411,"Indian hedgehog protein C-product; Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity)." 9606.ENSP00000295746,CIP2A,905,Protein CIP2A; Oncoprotein that inhibits PP2A and stabilizes MYC in human malignancies. Promotes anchorage-independent cell growth and tumor formation. 9606.ENSP00000295755,RETNLB,111,Resistin-like beta; Probable hormone; Belongs to the resistin/FIZZ family. 9606.ENSP00000295756,TRAT1,186,T-cell receptor-associated transmembrane adapter 1; Stabilizes the TCR (T-cell antigen receptor)/CD3 complex at the surface of T-cells. 9606.ENSP00000295757,HDAC11,347,"Histone deacetylase 11; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes." 9606.ENSP00000295759,GLB1L,654,Beta-galactosidase-1-like protein; Probable glycosyl hydrolase. 9606.ENSP00000295767,CHCHD4,155,"Mitochondrial intermembrane space import and assembly protein 40; Central component of a redox-sensitive mitochondrial intermembrane space import machinery which is required for the biogenesis of respiratory chain complexes. Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17, COX19, MICU1 and COA7. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Required for the import of COA7 in the IMS. Precursor proteins to be imported into the IMS are translo [...] " 9606.ENSP00000295770,STT3B,826,"Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B; Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation [...] " 9606.ENSP00000295777,SERPINI1,410,Neuroserpin; Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable). 9606.ENSP00000295797,PRKCI,596,"Protein kinase C iota type; Calcium- and diacylglycerol-independent serine/ threonine- protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process [...] " 9606.ENSP00000295802,RETSAT,610,"All-trans-retinol 13,14-reductase; Catalyzes the saturation of all-trans-retinol to all-trans- 13,14-dihydroretinol. Does not exhibit any activity toward all-trans- retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation. Belongs to the carotenoid/retinoid oxidoreductase family. CrtISO subfamily." 9606.ENSP00000295822,EIF5A2,153,"Eukaryotic translation initiation factor 5A-2; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By s [...] " 9606.ENSP00000295824,EFHB,833,"EF-hand domain-containing family member B; Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion, the activation of store-operated Ca(2+) entry (SOCE) and NFAT translocation from cytosol to nucleus." 9606.ENSP00000295834,FABP1,127,"Fatty acid-binding protein, liver; Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes. Binds cholesterol. Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity). Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family." 9606.ENSP00000295851,ABI2,513,"Abl interactor 2; Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation. Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge. Contributes to the regulation of actin assembly at the tips of neuro [...] " 9606.ENSP00000295872,SPICE1,855,"Spindle and centriole-associated protein 1; Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis." 9606.ENSP00000295878,CCDC191,936,Coiled-coil domain containing 191. 9606.ENSP00000295886,NKX6-1,367,"Homeobox protein Nkx-6.1; Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in the development of insulin-producing beta cells in the islets of Langerhans at the secondary transition (By similarity). Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity)." 9606.ENSP00000295887,CDS1,461,"Phosphatidate cytidylyltransferase 1; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol (PtdIns), phosphatidylglycerol, and cardiolipin. Overexpression may amplify cellular signaling responses from cytokines. May also play an important role in the signal transduction mechanism of retina and neural cells." 9606.ENSP00000295888,WDFY3,3526,"WD repeat and FYVE domain-containing protein 3; Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5- ATG12-ATG16L E3-like ligase, SQSTM1 and LC3. Along with p62/SQSTM1, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus. Important for normal brain developmen [...] " 9606.ENSP00000295896,C3orf49,292,Putative uncharacterized protein C3orf49; Chromosome 3 open reading frame 49. 9606.ENSP00000295897,ALB,609,"Serum albumin; Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific man [...] " 9606.ENSP00000295898,C4orf36,117,Uncharacterized protein C4orf36; Chromosome 4 open reading frame 36. 9606.ENSP00000295899,THOC7,204,"THO complex subunit 7 homolog; Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre- mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm v [...] " 9606.ENSP00000295900,ATXN7,892,Ataxin-7; Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization. 9606.ENSP00000295910,ERICH6,663,Glutamate-rich protein 6; Glutamate rich 6. 9606.ENSP00000295926,CCNL1,526,Cyclin-L1; Involved in pre-mRNA splicing. Functions in association with cyclin-dependent kinases (CDKs). Inhibited by the CDK-specific inhibitor CDKN1A/p21. May play a role in the regulation of RNA polymerase II (pol II). May be a candidate proto- oncogene in head and neck squamous cell carcinomas (HNSCC). 9606.ENSP00000295927,PTX3,381,"Pentraxin-related protein PTX3; Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self- components and female fertility." 9606.ENSP00000295958,SMIM14,99,Small integral membrane protein 14. 9606.ENSP00000295962,ABHD6,337,"Monoacylglycerol lipase ABHD6; Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol. Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism. BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and [...] " 9606.ENSP00000295966,C3orf67,563,Uncharacterized protein C3orf67. 9606.ENSP00000295971,RBM47,593,RNA binding motif protein 47; Belongs to the RRM RBM47 family. 9606.ENSP00000295981,IL17RC,791,Interleukin-17 receptor C; Receptor for IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RA. Receptor for the heterodimer formed by IL17A and IL17B as part of a heterodimeric complex with IL17RA. Has also been shown to be the cognate receptor for IL17F and to bind IL17A with high affinity without the need for IL17RA. Activation of IL17RC leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1. [Isoform 6]: Does not bind IL17A or IL17F. [Isoform 8]: Receptor for both IL17A and IL17F. 9606.ENSP00000295987,SYN1,705,"Synapsin-1; Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level." 9606.ENSP00000295992,PCOLCE2,415,Procollagen C-endopeptidase enhancer 2; Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1. 9606.ENSP00000296003,MTMR14,650,"Myotubularin-related protein 14; Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily." 9606.ENSP00000296015,TTC14,770,Tetratricopeptide repeat domain 14; Belongs to the TTC14 family. 9606.ENSP00000296026,CXCL3,107,"C-X-C motif chemokine 3; Ligand for CXCR2 (By similarity). Has chemotactic activity for neutrophils. May play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. In vitro, the processed form GRO-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes." 9606.ENSP00000296027,CXCL5,114,"C-X-C motif chemokine 5; Involved in neutrophil activation. In vitro, ENA-78(8-78) and ENA-78(9-78) show a threefold higher chemotactic activity for neutrophil granulocytes; Belongs to the intercrine alpha (chemokine CxC) family." 9606.ENSP00000296028,PPBP,128,"Connective tissue-activating peptide III(1-81); LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. C [...] " 9606.ENSP00000296029,PF4,101,"Platelet factor 4, short form; Released during platelet aggregation. Neutralizes the anticoagulant effect of heparin because it binds more strongly to heparin than to the chondroitin-4-sulfate chains of the carrier molecule. Chemotactic for neutrophils and monocytes. Inhibits endothelial cell proliferation, the short form is a more potent inhibitor than the longer form; Belongs to the intercrine alpha (chemokine CxC) family." 9606.ENSP00000296043,SHROOM3,1996,"Protein Shroom3; Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers (By similarity). Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity). Belongs to the shroom family." 9606.ENSP00000296046,CPA3,417,Carboxypeptidase A3. 9606.ENSP00000296051,HPS3,1004,Hermansky-Pudlak syndrome 3 protein; Involved in early stages of melanosome biogenesis and maturation. 9606.ENSP00000296059,TM4SF18,201,Transmembrane 4 L six family member 18. 9606.ENSP00000296088,SNRK,765,SNF-related serine/threonine-protein kinase; May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis. 9606.ENSP00000296091,ZNF502,544,Zinc finger protein 502; May be involved in transcriptional regulation. 9606.ENSP00000296096,TCF23,214,Transcription factor 23; Inhibits E-box-mediated binding and transactivation of bHLH factors. Inhibitory effect is similar to that of ID proteins. Inhibits the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA binding activity. Seems to play a role in the inhibition of myogenesis (By similarity). 9606.ENSP00000296097,DNAJC5G,189,DnaJ heat shock protein family member C5 gamma. 9606.ENSP00000296098,TRIM54,400,Tripartite motif-containing protein 54; May bind and stabilize microtubules during myotubes formation. 9606.ENSP00000296099,UCN,124,"Urocortin; Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta. Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity)." 9606.ENSP00000296102,MRPL33,65,Mitochondrial ribosomal protein L33. 9606.ENSP00000296121,KIAA1143,154,Uncharacterized protein KIAA1143; KIAA1143. 9606.ENSP00000296125,TGM4,684,Protein-glutamine gamma-glutamyltransferase 4; Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract. 9606.ENSP00000296129,CDCP1,836,CUB domain-containing protein 1; May be involved in cell adhesion and cell matrix association. May play a role in the regulation of anchorage versus migration or proliferation versus differentiation via its phosphorylation. May be a novel marker for leukemia diagnosis and for immature hematopoietic stem cell subsets. Belongs to the tetraspanin web involved in tumor progression and metastasis. 9606.ENSP00000296130,CLEC3B,202,Tetranectin; Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis. 9606.ENSP00000296135,LZTFL1,299,"Leucine zipper transcription factor-like protein 1; Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function. Belongs to the LZTFL1 family." 9606.ENSP00000296137,FYCO1,1478,FYVE and coiled-coil domain-containing protein 1; May mediate microtubule plus end-directed vesicle transport. 9606.ENSP00000296140,CCR1,355,"C-C chemokine receptor type 1; Receptor for a C-C type chemokine. Binds to MIP-1-alpha, MIP- 1-delta, RANTES, and MCP-3 and, less efficiently, to MIP-1-beta or MCP- 1 and subsequently transduces a signal by increasing the intracellular calcium ions level. Responsible for affecting stem cell proliferation." 9606.ENSP00000296142,RTP3,232,Receptor-transporting protein 3; Promotes functional cell surface expression of the bitter taste receptors TAS2R16 and TAS2R43; Belongs to the TMEM7 family. 9606.ENSP00000296145,TDGF1,188,Teratocarcinoma-derived growth factor 1; GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated TDGF1 acts as a Nodal coreceptor in cis. Shedding of TDGF1 by TMEM8A modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells. Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. 9606.ENSP00000296149,ELP6,266,"Elongator complex protein 6; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Involved in cell migration (By similarity). Belongs to the ELP6 family." 9606.ENSP00000296161,DTX3L,740,"E3 ubiquitin-protein ligase DTX3L; E3 ubiquitin-protein ligase which, in association with ADP- ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses. Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4. In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1). The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 'Lys-20' methylation (H4K20me). PARP1-depe [...] " 9606.ENSP00000296181,ITGB5,799,Integrin beta-5; Integrin alpha-V/beta-5 (ITGAV:ITGB5) is a receptor for fibronectin. It recognizes the sequence R-G-D in its ligand. 9606.ENSP00000296215,SNIP1,396,Smad nuclear-interacting protein 1; Required for pre-mRNA splicing as component of the spliceosome. Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. 9606.ENSP00000296218,DNALI1,280,Axonemal dynein light intermediate polypeptide 1; May play a dynamic role in flagellar motility. 9606.ENSP00000296220,OSBPL11,747,Oxysterol-binding protein-related protein 11; Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage. Weakly binds 25- hydroxycholesterol ; Belongs to the OSBP family. 9606.ENSP00000296233,KLF15,416,"Krueppel-like factor 15; Transcriptional regulator that binds to the GA element of the CLCNKA promoter. Binds to the KCNIP2 promoter and regulates KCNIP2 circadian expression in the heart (By similarity). Is a repressor of CCN2 expression, involved in the control of cardiac fibrosis. It is also involved in the control of cardiac hypertrophy acting through the inhibition of MEF2A and GATA4 (By similarity). Involved in podocyte differentiation (By similarity). Inhibits MYOCD activity. Is a negative regulator of TP53 acetylation. Inhibits NF-kappa-B activation through repression of EP300- [...] " 9606.ENSP00000296238,CAMK2N2,79,Calcium/calmodulin-dependent protein kinase II inhibitor 2; Potent and specific cellular inhibitor of CaM-kinase II (CAMK2). Traps Ca(2+)/calmodulin on CAMK2. May play an important role in the regulation of cell growth when overexpressed in colon adenocarcinoma LoVo cells. Traps Ca(2+)/calmodulin on CAMK2. 9606.ENSP00000296252,LIPH,451,"Lipase member H; Hydrolyzes specifically phosphatidic acid (PA) to produce 2- acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG). Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000296255,RPN1,607,"Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the en [...] " 9606.ENSP00000296257,SENP2,589,"Sentrin-specific protease 2; Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. May down-regulate CTNNB1 levels and thereby modulate th [...] " 9606.ENSP00000296266,IFT122,1292,"Intraflagellar transport protein 122 homolog; As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking. Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity)." 9606.ENSP00000296271,RHO,348,Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light- induced isomerization of the chromophore 11-cis-retinal to all-trans- retinal triggers a conformational change that activates signaling via G-proteins. Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling. 9606.ENSP00000296280,MASP1,728,Mannan binding lectin serine peptidase 1. 9606.ENSP00000296292,RFT1,541,Protein RFT1 homolog; May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane. 9606.ENSP00000296318,IL17RD,739,Interleukin-17 receptor D; Feedback inhibitor of fibroblast growth factor mediated Ras- MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity). 9606.ENSP00000296326,ZDHHC19,309,"Palmitoyltransferase ZDHHC19; Palmitoyltransferase that mediates palmitoylation of STAT3 and RRAS. Palmitoylation of STAT3 induces the homodimerization and transcriptional activation of STAT3, thereby, promoting inflammation and cancer. Palmitoylation of RRAS is linked to cell viability. May be involved in S-stearoylation of STAT3 (Probable)." 9606.ENSP00000296327,SLC51A,340,"Organic solute transporter subunit alpha; Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids." 9606.ENSP00000296328,UBXN7,489,"UBX domain-containing protein 7; Ubiquitin-binding adapter that links a subset of NEDD8- associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates." 9606.ENSP00000296333,PIGX,276,Phosphatidylinositol-glycan biosynthesis class X protein; Essential component of glycosylphosphatidylinositol- mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM (By similarity). Belongs to the PIGX family. 9606.ENSP00000296343,RUBCN,972,Run domain Beclin-1-interacting and cysteine-rich domain-containing protein; Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation. 9606.ENSP00000296350,MELTF,738,Melanotransferrin; Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc. 9606.ENSP00000296358,OTOP1,612,"Proton channel OTOP1; Proton-selective channel that specifically transports protons into cells. Proton channel activity is only weakly- sensitive to voltage (By similarity). Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes. In the vestibular system of the inner ear, required for the formation and function of otoconia, which are calcium carbonate crystals that sense gravity and acceleration (By similarity). Probably acts by maintaining the pH appropriate for [...] " 9606.ENSP00000296370,S100P,95,"Protein S100-P; May function as calcium sensor and contribute to cellular calcium signaling. In a calcium-dependent manner, functions by interacting with other proteins, such as EZR and PPP5C, and indirectly plays a role in physiological processes like the formation of microvilli in epithelial cells. May stimulate cell proliferation in an autocrine manner via activation of the receptor for activated glycation end products (RAGE); Belongs to the S-100 family." 9606.ENSP00000296387,CLDN19,224,"Claudin-19; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000296411,METAP1,386,"Methionine aminopeptidase 1; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met- Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Required for normal progression through the cell cycle." 9606.ENSP00000296412,ADH5,374,"Alcohol dehydrogenase class-3; Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione. Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate. Class-III ADH is remarkably ineffective in oxidizing ethanol ; Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily." 9606.ENSP00000296417,H2AZ1,128,"Histone H2A.Z; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post- translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for c [...] " 9606.ENSP00000296420,EMCN,261,"Endomucin; Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix." 9606.ENSP00000296422,SLC9B1,515,Sodium/hydrogen exchanger 9B1; Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. 9606.ENSP00000296424,BDH2,245,"3-hydroxybutyrate dehydrogenase type 2; Dehydrogenase that mediates the formation of 2,5- dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron assimilation and homeostasis. Plays a role in susceptibility to bacterial infection by providing an assimilable source of iron that is exploited by pathogenic bacteria (By similarity). Also acts as a 3-hydroxybutyrate dehydrogenase." 9606.ENSP00000296435,CAMP,173,"Cathelicidin antimicrobial peptide; Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity." 9606.ENSP00000296438,FBXW12,464,F-box/WD repeat-containing protein 12; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000296444,SHISA5,240,Protein shisa-5; Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis. 9606.ENSP00000296452,BSN,3926,"Protein bassoon; Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released. After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts. At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Functions also in processes other [...] " 9606.ENSP00000296456,APEH,732,"Acylamino-acid-releasing enzyme; This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser; Belongs to the peptidase S9C family." 9606.ENSP00000296464,HSPA4L,839,Heat shock 70 kDa protein 4L; Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase; Belongs to the heat shock protein 70 family. 9606.ENSP00000296473,MON1A,652,"Vacuolar fusion protein MON1 homolog A; Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form." 9606.ENSP00000296474,MST1R,1400,"Macrophage-stimulating protein receptor alpha chain; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to MST1 ligand. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces autophosphorylation of RON on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1 or the adapter GAB1. Recruitment of these downstream effectors by RON lea [...] " 9606.ENSP00000296484,POC1A,407,"POC1 centriolar protein homolog A; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation; Belongs to the WD repeat POC1 family." 9606.ENSP00000296486,ETNPPL,499,"Ethanolamine-phosphate phospho-lyase; Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde." 9606.ENSP00000296490,WDR82,313,"WD repeat-containing protein 82; Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 'Lys-4' methylation via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase." 9606.ENSP00000296498,PRSS12,875,Neurotrypsin; Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations; Belongs to the peptidase S1 family. 9606.ENSP00000296499,NDST3,873,"Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity." 9606.ENSP00000296503,HMGB2,209,"High mobility group protein B2; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. In the nucleus is an abundant chromatin-associated non-histone protein involved in transcription, chromatin remodeling and V(D)J recombination and probably other processes. Binds DNA with a preference to non- canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bring [...] " 9606.ENSP00000296504,SAP30,220,Histone deacetylase complex subunit SAP30; Involved in the functional recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. Capable of transcription repression by N-CoR. Active in deacetylating core histone octamers (when in a complex) but inactive in deacetylating nucleosomal histones; Belongs to the SAP30 family. 9606.ENSP00000296506,SCRG1,98,Scrapie-responsive protein 1; Stimulator of chondrogenesis 1. 9606.ENSP00000296509,MAD2L1,205,Mitotic spindle assembly checkpoint protein MAD2A; Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore-spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate. 9606.ENSP00000296511,ANXA5,320,"Annexin A5; This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade." 9606.ENSP00000296513,ADAD1,576,Adenosine deaminase domain-containing protein 1; Plays a role in spermatogenesis. Binds to RNA but not to DNA (By similarity). 9606.ENSP00000296518,GUCY1A1,690,Guanylate cyclase 1 soluble subunit alpha 1; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. 9606.ENSP00000296522,HPGD,266,15-hydroxyprostaglandin dehydrogenase [NAD(+)]; Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells. 9606.ENSP00000296525,ASB5,329,Ankyrin repeat and SOCS box protein 5; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the initiation of arteriogenesis (By similarity); Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000296526,GRIA2,883,"Glutamate receptor 2; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of [...] " 9606.ENSP00000296529,TMEM144,345,Transmembrane protein 144; Belongs to the TMEM144 family. 9606.ENSP00000296543,NAA15,866,"N-alpha-acetyltransferase 15, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter." 9606.ENSP00000296545,IL15,162,"Interleukin-15; Cytokine that stimulates the proliferation of T-lymphocytes. Stimulation by IL15 requires interaction of IL15 with components of the IL2 receptor, including IL2RB and probably IL2RG but not IL2RA. In neutrophils, stimulates phagocytosis probably by signaling through the IL15 receptor, composed of the subunits IL15RA, IL2RB and IL2RG, which results in kinase SYK activation ; Belongs to the IL-15/IL-21 family." 9606.ENSP00000296557,ARFIP1,373,"Arfaptin-1; Plays a role in controlling biogenesis of secretory granules at the trans-Golgi network. Mechanisitically, binds ARF-GTP at the neck of a growing secretory granule precursor and forms a protective scaffold. Once the granule precursor has been completely loaded, active PRKD1 phosphorylates ARFIP1 and releases it from ARFs. In turn, ARFs induce fission. Through this mechanism, ensures proper secretory granule formation at the Golgi of pancreatic beta cells." 9606.ENSP00000296564,ICE1,2266,"Little elongation complex subunit 1; Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies. Belongs to the ICE1 family." 9606.ENSP00000296575,HHIP,700,Hedgehog-interacting protein; Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family; Belongs to the HHIP family. 9606.ENSP00000296577,ABCE1,599,"ATP-binding cassette sub-family E member 1; Antagonizes the binding of 2-5A (5'-phosphorylated 2',5'- linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly; Belongs to the ABC transporter superfamily. ABCE family." 9606.ENSP00000296581,LSM6,80,"U6 snRNA-associated Sm-like protein LSm6; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA. Component of LSm protein complexes, which are involved in RNA processing and may function in a chaperone-like manner, facilitating the efficient association of RNA processing factors with their substrates. Component of the cytoplasmic LSM1-LSM7 complex, which is tho [...] " 9606.ENSP00000296582,TMEM184C,438,Transmembrane protein 184C; Possible tumor suppressor which may play a role in cell growth; Belongs to the TMEM184 family. 9606.ENSP00000296585,ITGA2,1181,"Integrin alpha-2; Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix. (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8." 9606.ENSP00000296589,SLC45A2,530,Membrane-associated transporter protein; Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity); Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. 9606.ENSP00000296591,EDIL3,480,EGF-like repeat and discoidin I-like domain-containing protein 3; Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor. Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of remodeling in embryonic development. 9606.ENSP00000296597,NDUFAF2,169,NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 9606.ENSP00000296600,ZNF474,364,Zinc finger protein 474. 9606.ENSP00000296603,LMBRD2,695,"G-protein coupled receptor-associated protein LMBRD2; Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway. May also regulate other G-protein coupled receptors including type-1 angiotensin II receptor/AGTR1 (Probable); Belongs to the LIMR family." 9606.ENSP00000296632,STARD4,205,StAR-related lipid transfer protein 4; Involved in the intracellular transport of cholesterol. Binds cholesterol or other sterols. 9606.ENSP00000296641,F2RL2,374,Proteinase-activated receptor 3; Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. 9606.ENSP00000296657,ANKRD33B,494,Ankyrin repeat domain 33B. 9606.ENSP00000296658,CMBL,245,"Carboxymethylenebutenolidase homolog; Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam antibiotics faropenem medoxomil and lenampicillin." 9606.ENSP00000296674,RPS23,143,"40S ribosomal protein S23; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through [...] " 9606.ENSP00000296677,F2RL1,397,"Proteinase-activated receptor 2, alternate cleaved 1; Receptor for trypsin and trypsin-like enzymes coupled to G proteins. Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho. Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can [...] " 9606.ENSP00000296679,WDR41,459,"WD repeat-containing protein 41; Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity." 9606.ENSP00000296682,PRDM9,894,"Histone-lysine N-methyltransferase PRDM9; Histone methyltransferase that sequentially mono-, di-, and tri-methylates both 'Lys-4' (H3K4) and 'Lys-36' (H3K36) of histone H3 to produce respectively trimethylated 'Lys-4' (H3K4me3) and trimethylated 'Lys-36' (H3K36me3) histone H3 and plays a key role in meiotic prophase by determining hotspot localization thereby promoting meiotic recombination. Also can methylate all four core histones with H3 being the best substrate and the most highly modified. Is also able, on one hand, to mono and di-methylate H4K20 and on other hand to trimethylate [...] " 9606.ENSP00000296684,NDUFS4,175,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000296694,SCGB3A2,93,"Secretoglobin family 3A member 2; Secreted cytokine-like protein. Binds to the scavenger receptor MARCO. Can also bind to pathogens including the Gram-positive bacterium L.monocytogenes, the Gram-negative bacterium P.aeruginosa, and yeast. Strongly inhibits phospholipase A2 (PLA2G1B) activity. Seems to have anti-inflammatory effects in respiratory epithelium (By similarity). Also has anti-fibrotic activity in lung. May play a role in fetal lung development and maturation. Promotes branching morphogenesis during early stages of lung development. In the pituitary, may inhibit production [...] " 9606.ENSP00000296695,SPINK1,79,"Serine protease inhibitor Kazal-type 1; Serine protease inhibitor which exhibits anti-trypsin activity. In the pancreas, protects against trypsin- catalyzed premature activation of zymogens (By similarity)." 9606.ENSP00000296702,TCERG1,1098,Transcription elongation regulator 1; Transcription factor that binds RNA polymerase II and inhibits the elongation of transcripts from target promoters. Regulates transcription elongation in a TATA box-dependent manner. Necessary for TAT-dependent activation of the human immunodeficiency virus type 1 (HIV-1) promoter. 9606.ENSP00000296721,AFAP1L1,768,Actin filament-associated protein 1-like 1; May be involved in podosome and invadosome formation. 9606.ENSP00000296736,TIGD6,521,Tigger transposable element derived 6. 9606.ENSP00000296741,ENPP6,440,"Glycerophosphocholine cholinephosphodiesterase ENPP6; Choline-specific glycerophosphodiesterase that hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) and contributes to supplying choline to the cells. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. In vitro, hydrolyzes only choline-containing lysophospholipids, such as sphingosylphosphorylcholine (SPC), platelet- activating factor (PAF) and lysoPAF, but not other lysophospholipids (By similarity); Belongs to the nucleotide pyrophosphatase/phosphodiesterase family." 9606.ENSP00000296754,ERAP1,948,"Endoplasmic reticulum aminopeptidase 1; Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play [...] " 9606.ENSP00000296755,MAP1B,2468,"Microtubule-associated protein 1B; Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B may play a role in the cytoskeletal changes that accompany neurite extension. Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing." 9606.ENSP00000296776,TMEM174,243,Transmembrane protein 174. 9606.ENSP00000296777,CARTPT,116,Cocaine- and amphetamine-regulated transcript protein; Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro. 9606.ENSP00000296782,RICTOR,1732,"Rapamycin-insensitive companion of mTOR; Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activa [...] " 9606.ENSP00000296785,ANKRA2,313,Ankyrin repeat family A protein 2; May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5. May also regulate LRP2/megalin (By similarity). 9606.ENSP00000296786,UBLCP1,318,"Ubiquitin-like domain-containing CTD phosphatase 1; Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity. The dephosphorylation may prevent assembly of the core and regulatory particles (CP and RP) into mature 26S proteasome." 9606.ENSP00000296792,UTP15,518,U3 small nucleolar RNA-associated protein 15 homolog; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. 9606.ENSP00000296795,TLR3,904,"Toll-like receptor 3; Key component of innate and adaptive immunity. TLRs (Toll- like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response." 9606.ENSP00000296824,CCDC127,260,Coiled-coil domain containing 127. 9606.ENSP00000296839,FOXQ1,403,Forkhead box protein Q1; Plays a role in hair follicle differentiation. 9606.ENSP00000296849,NKD2,451,Protein naked cuticle homolog 2; Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity (By similarity). Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells. 9606.ENSP00000296859,RAPGEF6,1609,"Rap guanine nucleotide exchange factor 6; Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP." 9606.ENSP00000296861,TNFRSF21,655,"Tumor necrosis factor receptor superfamily member 21; Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Plays a role in neuronal apoptosis, including apoptosis in response to amyloid peptides derived from APP, and is required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP- beta which is further cleaved to release an N-terminal fra [...] " 9606.ENSP00000296862,ADGRF2,708,Adhesion G-protein coupled receptor F2; Orphan receptor. 9606.ENSP00000296870,IL3,152,"Interleukin-3; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages." 9606.ENSP00000296871,CSF2,144,"Granulocyte-macrophage colony-stimulating factor; Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes. Belongs to the GM-CSF family." 9606.ENSP00000296877,LEAP2,77,Liver-expressed antimicrobial peptide 2; Has an antimicrobial activity; Belongs to the LEAP2 family. 9606.ENSP00000296921,TLX3,291,T cell leukemia homeobox 3. 9606.ENSP00000296930,NPM1,294,"Nucleophosmin; Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1 endonuclease activity on apurinic/apyrimidinic (AP) double-stranded DNA but inhibits APEX1 endonuclease activity on AP single-stranded RNA. M [...] " 9606.ENSP00000296946,TBXT,435,T-box transcription factor T; Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site. 9606.ENSP00000296953,CREBRF,639,CREB3 regulatory factor; Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci. 9606.ENSP00000296955,DCBLD1,539,"Discoidin, CUB and LCCL domain containing 1." 9606.ENSP00000296980,IL22RA2,263,"Interleukin-22 receptor subunit alpha-2; Isoform 2 is a receptor for IL22. Binds to IL22, prevents interaction with the functional IL-22R complex and blocks the activity of IL22 (in vitro). May play an important role as an IL22 antagonist in the regulation of inflammatory responses." 9606.ENSP00000297001,SPATA48,438,Spermatogenesis-associated protein 48; Spermatogenesis associated 48. 9606.ENSP00000297012,H2AC1,131,"Histone H2A type 1-A; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000297029,SCIN,715,"Adseverin; Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles. Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization [...] " 9606.ENSP00000297044,CYTH3,399,Cytohesin-3; Promotes guanine-nucleotide exchange on ARF1 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays a role in the epithelial polarization (By similarity). 9606.ENSP00000297056,DAGLB,672,"Sn1-specific diacylglycerol lipase beta; Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000297063,KIAA0895,520,Uncharacterized protein KIAA0895; KIAA0895. 9606.ENSP00000297071,TRA2A,282,Transformer-2 protein homolog alpha; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. 9606.ENSP00000297107,GALNT10,603,"Polypeptide N-acetylgalactosaminyltransferase 10; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000297109,SAP30L,183,"Histone deacetylase complex subunit SAP30L; [Isoform 1]: Functions as transcription repressor, probably via its interaction with histone deacetylase complexes. Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus. Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA. Binds phosphoinositol phosphates (phosphoinositol 3- phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import. [Isoform 3]: Functions as [...] " 9606.ENSP00000297130,MYOZ3,251,"Myozenin-3; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis." 9606.ENSP00000297135,COG5,860,Conserved oligomeric Golgi complex subunit 5; Required for normal Golgi function; Belongs to the COG5 family. 9606.ENSP00000297142,NEUROD6,337,Neurogenic differentiation factor 6; Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity). 9606.ENSP00000297145,BMT2,405,"S-adenosylmethionine sensor upstream of mTORC1; S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes. Acts as a sensor of S-adenosyl-L- methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling. Upon methionine starvation, S-adenosyl-L- methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 [...] " 9606.ENSP00000297146,GPR85,370,Probable G-protein coupled receptor 85; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000297151,SLU7,586,"Pre-mRNA-splicing factor SLU7; Required for pre-mRNA splicing as component of the spliceosome. Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation." 9606.ENSP00000297156,CAMLG,296,Calcium signal-modulating cyclophilin ligand; Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B. 9606.ENSP00000297157,RP9,221,Retinitis pigmentosa 9 protein; Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity). 9606.ENSP00000297164,RELL2,303,"RELT-like protein 2; Induces activation of MAPK14/p38 cascade, when overexpressed. Induces apoptosis, when overexpressed ; Belongs to the RELT family." 9606.ENSP00000297185,HSPA9,679,"Stress-70 protein, mitochondrial; Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU. Regulates erythropoiesis via stabilization of ISC assembly. May play a role in the control of cell proliferation and cellular aging (By similarity). Belongs to the heat shock protein 70 family." 9606.ENSP00000297203,TEX47,253,Testis-expressed protein 47; Testis expressed 47. 9606.ENSP00000297205,STEAP1,339,Metalloreductase STEAP1; Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor. 9606.ENSP00000297258,FABP5,135,"Fatty acid-binding protein 5; Intracellular carrier for long-chain fatty acids and related active lipids, such as the endocannabinoid, that regulates the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors. Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls [...] " 9606.ENSP00000297261,SHH,462,"Sonic hedgehog protein N-product; [Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity)." 9606.ENSP00000297265,CHMP4C,233,"Charged multivesicular body protein 4c; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] " 9606.ENSP00000297267,FNDC1,1894,Fibronectin type III domain-containing protein 1; May be an activator of G protein signaling. 9606.ENSP00000297268,COL1A2,1366,Collagen alpha-2(I) chain; Type I collagen is a member of group I collagen (fibrillar forming collagen); Belongs to the fibrillar collagen family. 9606.ENSP00000297273,CASD1,797,"N-acetylneuraminate 9-O-acetyltransferase; O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids. Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition. Belongs to the PC-esterase family. CASD1 subfamily." 9606.ENSP00000297282,SLC13A4,626,Solute carrier family 13 member 4; Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV). 9606.ENSP00000297283,PGAM2,253,"Phosphoglycerate mutase 2; Interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity." 9606.ENSP00000297290,BRI3,125,Brain protein I3; Participates in tumor necrosis factor-alpha (TNF)-induced cell death. May be a target of Wnt/beta-catenin signaling in the liver ; Belongs to the BRI3 family. 9606.ENSP00000297293,LMTK2,1503,"Serine/threonine-protein kinase LMTK2; Phosphorylates PPP1C, phosphorylase b and CFTR; Belongs to the protein kinase superfamily. Tyr protein kinase family." 9606.ENSP00000297307,SLC35G3,338,Solute carrier family 35 member G3. 9606.ENSP00000297313,RGS20,388,"Regulator of G-protein signaling 20; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)- i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity)." 9606.ENSP00000297316,SOX17,414,"Transcription factor SOX-17; Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'- AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important rol [...] " 9606.ENSP00000297323,ADCY1,1119,Adenylate cyclase type 1; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. 9606.ENSP00000297324,C8orf48,319,Uncharacterized protein C8orf48; Chromosome 8 open reading frame 48. 9606.ENSP00000297325,SUN3,357,"SUN domain-containing protein 3; As a probable component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nuclear remodeling during sperm head formation in spermatogenenis. A probable SUN3:SYNE1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as [...] " 9606.ENSP00000297338,RAD21,631,"Double-strand-break repair protein rad21 homolog; [Double-strand-break repair protein rad21 homolog]: As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions. The cohesin complex may also play a role in spindle pole assembly during mitosis. In interphase, cohesins may function in the control of gene expression by binding to n [...] " 9606.ENSP00000297347,MED30,178,"Mediator of RNA polymerase II transcription subunit 30; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000297350,TNFRSF11B,401,Tumor necrosis factor receptor superfamily member 11B; Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis. 9606.ENSP00000297354,SBSPON,264,Somatomedin-B and thrombospondin type-1 domain-containing protein; Somatomedin B and thrombospondin type 1 domain containing; Belongs to the thrombospondin family. 9606.ENSP00000297375,EN2,333,Homeobox protein engrailed-2; Engrailed homeobox 2; Belongs to the engrailed homeobox family. 9606.ENSP00000297405,CSMD3,3707,CUB and sushi domain-containing protein 3; Involved in dendrite development. 9606.ENSP00000297423,SPIDR,915,"DNA repair-scaffolding protein; Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity." 9606.ENSP00000297431,ORC5,435,Origin recognition complex subunit 5; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication; Belongs to the ORC5 family. 9606.ENSP00000297435,DEFA4,97,"Neutrophil defensin 4; Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production." 9606.ENSP00000297436,DEFA6,100,Defensin-6; Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1. 9606.ENSP00000297439,DEFB1,68,Beta-defensin 1; Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility. 9606.ENSP00000297440,DNAAF5,855,"Dynein assembly factor 5, axonemal; Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility." 9606.ENSP00000297459,TMEM74,305,Transmembrane protein 74; Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction. Belongs to the TMEM74 family. 9606.ENSP00000297477,TMEM184A,413,Transmembrane protein 184A; Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity). 9606.ENSP00000297494,NOS3,1203,"Nitric oxide synthase, endothelial; Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets; Belongs to the NOS family." 9606.ENSP00000297504,ABCB8,735,"Mitochondrial potassium channel ATP-binding subunit; ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane. Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel). Plays a role in mitochondrial iron transport. Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity)." 9606.ENSP00000297508,MICALL2,904,"MICAL-like protein 2; Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes [...] " 9606.ENSP00000297512,ASIC3,549,"Acid-sensing ion channel 3; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties." 9606.ENSP00000297524,SLC7A13,470,Solute carrier family 7 member 13; Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner; Belongs to the amino acid-polyamine-organocation (APC) superfamily. 9606.ENSP00000297532,FASTK,549,"Fas-activated serine/threonine kinase; Phosphorylates the splicing regulator TIA1, thereby promoting the inclusion of FAS exon 6, which leads to an mRNA encoding a pro- apoptotic form of the receptor." 9606.ENSP00000297534,FMC1,113,Protein FMC1 homolog; Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) ; Belongs to the FMC1 family. 9606.ENSP00000297537,GBX1,363,Homeobox protein GBX-1; Gastrulation brain homeobox 1. 9606.ENSP00000297540,PHAX,394,"Phosphorylated adapter RNA export protein; A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric imp [...] " 9606.ENSP00000297578,SLC25A32,315,Mitochondrial folate transporter/carrier; Transports folate across the inner membranes of mitochondria. Can also transport FAD across the mitochondrial inner membrane. 9606.ENSP00000297579,DCAF13,597,DDB1- and CUL4-associated factor 13; Possible role in ribosomal RNA processing (By similarity). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; Belongs to the WD repeat DCAF13/WDSOF1 family. 9606.ENSP00000297581,DCSTAMP,470,"Dendritic cell-specific transmembrane protein; Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Participates in osteoclast bone resorption. Involved in inducing the expression of tartrate-resistant acid phosphatase in osteoclast precursors. Plays a role in haematopoietic stem cell differentiation of bone marrow cells toward the myeloid lineage. I [...] " 9606.ENSP00000297591,VIRMA,1812,"Protein virilizer homolog; Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs in the 3'-UTR near the stop codon: recruits the catalytic core components METTL3 and METTL14, thereby guiding m6A methylation at specific sites. Required for mRNA polyadenylation via its role in selective m6A methylation: m6A methylation of mRNAs in the 3'-UTR near the stop codon corr [...] " 9606.ENSP00000297596,GEM,296,"GTP-binding protein GEM; Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity." 9606.ENSP00000297613,RPP25L,163,Ribonuclease P protein subunit p25-like protein; May be a component of ribonuclease P or MRP. 9606.ENSP00000297623,C9orf24,262,Spermatid-specific manchette-related protein 1; May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells. Belongs to the SMRP1 family. 9606.ENSP00000297625,MYORG,714,Myogenesis-regulating glycosidase; Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2. 9606.ENSP00000297632,TMEM65,240,Transmembrane protein 65; May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance. 9606.ENSP00000297668,CNTNAP3,1288,Contactin-associated protein-like 3; Contactin associated protein family member 3. 9606.ENSP00000297679,HSD3B7,369,"3 beta-hydroxysteroid dehydrogenase type 7; The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis. Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25- dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymph [...] " 9606.ENSP00000297689,NFIL3,462,"Nuclear factor interleukin-3-regulated protein; Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts (By similarity). Represses transcriptional activity of PER1 (By similarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription from the interleukin-3 promoter in T-cells. Competes for t [...] " 9606.ENSP00000297737,ZMAT4,229,Zinc finger matrin-type 4. 9606.ENSP00000297767,PRSS37,235,Probable inactive serine protease 37; Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system ; Belongs to the peptidase S1 family. 9606.ENSP00000297770,CPA6,437,"Carboxypeptidase A6; May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II. Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine." 9606.ENSP00000297785,ALDH1A1,501,Retinal dehydrogenase 1; Can convert/oxidize retinaldehyde to retinoic acid. Binds free retinal and cellular retinol-binding protein-bound retinal (By similarity). May have a broader specificity and oxidize other aldehydes in vivo. 9606.ENSP00000297788,CCDC136,1154,Coiled-coil domain-containing protein 136; May play a role in acrosome formation in spermatogenesis and in fertilization. 9606.ENSP00000297792,KDM1B,590,Lysine demethylase 1B. 9606.ENSP00000297814,KIF27,1401,Kinesin-like protein KIF27; Plays an essential role in motile ciliogenesis. 9606.ENSP00000297819,SSMEM1,244,Serine rich single-pass membrane protein 1. 9606.ENSP00000297837,ANKS6,871,Ankyrin repeat and SAM domain-containing protein 6; Required for renal function. 9606.ENSP00000297848,COL14A1,1796,"Collagen alpha-1(XIV) chain; Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity)." 9606.ENSP00000297857,ZHX1,873,Zinc fingers and homeoboxes protein 1; Acts as a transcriptional repressor. Increases DNMT3B- mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co-repressor proteins. Belongs to the ZHX family. 9606.ENSP00000297873,METTL27,245,Methyltransferase-like protein 27; Methyltransferase like 27. 9606.ENSP00000297904,VEGFD,354,"Vascular endothelial growth factor D; Growth factor active in angiogenesis, lymphangiogenesis and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in the formation of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors." 9606.ENSP00000297913,OR1Q1,314,Olfactory receptor 1Q1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000297954,WNK2,2297,"Serine/threonine-protein kinase WNK2; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression. Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulatio [...] " 9606.ENSP00000297988,AQP7,342,"Aquaporin-7; Forms a channel that mediates water and glycerol transport across cell membranes at neutral pH. The channel is also permeable to urea. Plays an important role in body energy homeostasis under conditions that promote lipid catabolism, giving rise to glycerol and free fatty acids. Mediates glycerol export from adipocytes. After release into the blood stream, glycerol is used for gluconeogenesis in the liver to maintain normal blood glucose levels and prevent fasting hypoglycemia. Required for normal glycerol reabsorption in the kidney (By similarity). Belongs to the MIP/aqua [...] " 9606.ENSP00000297990,NOL6,1146,Nucleolar protein 6; Belongs to the NRAP family. 9606.ENSP00000297991,AQP3,292,"Aquaporin-3; Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an [...] " 9606.ENSP00000297994,TRMT10B,316,tRNA methyltransferase 10 homolog B; S-adenosyl-L-methionine-dependent guanine N(1)- methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs. Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs. 9606.ENSP00000298032,ARMC3,872,Armadillo repeat containing 3. 9606.ENSP00000298048,MELK,651,"Maternal embryonic leucine zipper kinase; Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcino [...] " 9606.ENSP00000298050,DEUP1,604,"Deuterosome assembly protein 1; Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity); Belongs to the CEP63 family." 9606.ENSP00000298097,FBXO33,555,F-box only protein 33; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Recognizes YBX1 (By similarity). 9606.ENSP00000298119,LRFN5,719,Leucine-rich repeat and fibronectin type-III domain-containing protein 5; Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons; Belongs to the LRFN family. 9606.ENSP00000298125,WDFY2,400,"WD repeat and FYVE domain-containing protein 2; Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2. Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti- adipogenetic transcription factor FOXO1 by the kinase AKT1. Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By si [...] " 9606.ENSP00000298130,SPTSSA,71,"Serine palmitoyltransferase small subunit A; Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1- SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. Plays a role in MBOAT7 location to mitochondria-associated membranes (MAMs), may me involved in fatty acid remodeling phosphatidylinositol (PI)." 9606.ENSP00000298139,WRN,1432,"Werner syndrome ATP-dependent helicase; Multifunctional enzyme that has both magnesium and ATP- dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or durin [...] " 9606.ENSP00000298159,CFL2,166,Cofilin-2; Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity); Belongs to the actin-binding proteins ADF family. 9606.ENSP00000298181,SSX7,188,Protein SSX7; Could act as a modulator of transcription; Belongs to the SSX family. 9606.ENSP00000298198,PGM2L1,622,"Glucose 1,6-bisphosphate synthase; Glucose 1,6-bisphosphate synthase using 1,3- bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1- phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6- phosphosugars are bad substrates, with the exception of glucose 6- phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities." 9606.ENSP00000298223,FOLR2,255,Folate receptor beta; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. 9606.ENSP00000298229,INPPL1,1258,"Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling [...] " 9606.ENSP00000298231,PHOX2A,284,Paired mesoderm homeobox protein 2A; May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype. 9606.ENSP00000298248,CRYL1,319,Lambda-crystallin homolog; Crystallin lambda 1. 9606.ENSP00000298251,HEPACAM,416,Hepatocyte cell adhesion molecule; Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation. 9606.ENSP00000298281,PCF11,1555,Pre-mRNA cleavage complex 2 protein Pcf11; Component of pre-mRNA cleavage complex II. 9606.ENSP00000298282,PKNOX2,472,Homeobox protein PKNOX2; PBX/knotted 1 homeobox 2; Belongs to the TALE/MEIS homeobox family. 9606.ENSP00000298283,RPL10L,214,60S ribosomal protein L10-like; May play a role in compensating for the inactivated X-linked gene during spermatogenesis. 9606.ENSP00000298288,LRR1,414,Leucine-rich repeat protein 1; May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000298292,DNAAF2,837,"Protein kintoun; Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment. Belongs to the PIH1 family. Kintoun subfamily." 9606.ENSP00000298295,DEPP1,212,Protein DEPP1; Acts as a critical modulator of FOXO3-induced autophagy via increased cellular ROS. 9606.ENSP00000298296,MAGEC3,643,Melanoma-associated antigen C3; MAGE family member C3. 9606.ENSP00000298299,ZNF22,224,Zinc finger protein 22; Binds DNA through the consensus sequence 5'-CAATG-3'. May be involved in transcriptional regulation and may play a role in tooth formation (By similarity). 9606.ENSP00000298307,KLHDC2,406,Kelch domain-containing protein 2; Represses CREB3-mediated transcription by interfering with CREB3-DNA binding. 9606.ENSP00000298310,NEMF,1076,"Nuclear export mediator factor NEMF; Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. NEMF is responsible for selective recognition of stalled 60S subunits by recognizing an exposed, nascent chain-conjugated tRNA moiety. NEMF is important for the stable association of LTN1 to the complex. May indirectly play a role in nuclear export." 9606.ENSP00000298316,ARF6,175,"ADP-ribosylation factor 6; GTP-binding protein involved in protein trafficking that regulates endocytic recycling and cytoskeleton remodeling. Required for normal completion of mitotic cytokinesis (By similarity). Plays a role in the reorganization of the actin cytoskeleton and the formation of stress fibers (By similarity). Involved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization. Regulates surface le [...] " 9606.ENSP00000298317,RPUSD4,377,"Mitochondrial RNA pseudouridine synthase RPUSD4; Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome. Acts on position 39 in mitochondrial tRNA(Phe). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translatio [...] " 9606.ENSP00000298351,TMEM63C,806,Calcium permeable stress-gated cation channel 1; Acts as an osmosensitive calcium-permeable cation channel. Required for the functional integrity of the kidney glomerular filtration barrier (By similarity). Belongs to the CSC1 (TC 1.A.17) family. 9606.ENSP00000298352,NGB,151,"Neuroglobin; Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti- apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis." 9606.ENSP00000298355,TRIM9,710,E3 ubiquitin-protein ligase TRIM9; E3 ubiquitin-protein ligase which ubiquitinates itself in cooperation with an E2 enzyme UBE2D2/UBC4 and serves as a targeting signal for proteasomal degradation. May play a role in regulation of neuronal functions and may also participate in the formation or breakdown of abnormal inclusions in neurodegenerative disorders. May act as a regulator of synaptic vesicle exocytosis by controlling the availability of SNAP25 for the SNARE complex formation. Belongs to the TRIM/RBCC family. 9606.ENSP00000298375,AKR1E2,320,"1,5-anhydro-D-fructose reductase; Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D- fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH- dependent reductase activity towards 9,10-phenanthrenequinone (in vitro)." 9606.ENSP00000298386,RXFP2,754,Relaxin receptor 2; Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3). 9606.ENSP00000298396,SSX3,188,Protein SSX3; Could act as a modulator of transcription; Belongs to the SSX family. 9606.ENSP00000298428,SEC61A2,476,"Protein transport protein Sec61 subunit alpha isoform 2; Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity); Belongs to the SecY/SEC61-alpha family." 9606.ENSP00000298440,OXGR1,337,2-oxoglutarate receptor 1; Receptor for alpha-ketoglutarate. Seems to act exclusively through a G(q)-mediated pathway (By similarity). 9606.ENSP00000298492,ABRAXAS2,415,"BRISC complex subunit Abraxas 2; Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates. May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm. Plays a role in regulating the onset of apoptosis via its role in modulating 'Lys-63'-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiq [...] " 9606.ENSP00000298510,PRDX3,256,"Thioredoxin-dependent peroxide reductase, mitochondrial; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides. Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol." 9606.ENSP00000298527,CLEC1B,229,"C-type lectin domain family 1 member B; C-type lectin-like receptor that functions as a platelet receptor for the lymphatic endothelial marker, PDPN. After ligand activation, signals via sequential activation of SRC and SYK tyrosine kinases leading to activation of PLCG2. (Microbial infection) Acts as an attachment factor for Human immunodeficiency virus type 1 (HIV-1) and facilitates its capture by platelets." 9606.ENSP00000298532,SNAPC4,1469,"snRNA-activating protein complex subunit 4; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box." 9606.ENSP00000298542,FRMD7,714,"FERM domain-containing protein 7; Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability." 9606.ENSP00000298545,AK8,479,"Adenylate kinase 8; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity." 9606.ENSP00000298552,TSC1,1164,"Hamartin; In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co- chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1. Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 [...] " 9606.ENSP00000298556,HPRT1,218,"Hypoxanthine-guanine phosphoribosyltransferase; Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5- phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway." 9606.ENSP00000298569,KIAA1191,305,"Putative monooxygenase p33MONOX; Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival, differentiation and axonal outgrowth; Belongs to the P33MONOX family." 9606.ENSP00000298573,DUSP16,665,Dual specificity protein phosphatase 16; Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2. 9606.ENSP00000298585,ZMYND19,227,Zinc finger MYND domain-containing protein 19; May be involved as a regulatory molecule in GPR24/MCH-R1 signaling. 9606.ENSP00000298596,STOX1,989,Storkhead-box protein 1; Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta. Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity). 9606.ENSP00000298630,STK32C,486,Serine/threonine kinase 32C; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. 9606.ENSP00000298681,SLC39A2,309,Zinc transporter ZIP2; Mediates zinc uptake. Zinc uptake may be mediated by a Zn(2+)-HCO(3)(-) symport mechanism and can function in the presence of albumin. May also transport other divalent cations. May be important in contact inhibition of normal epithelial cells and loss of its expression may play a role in tumorigenesis. 9606.ENSP00000298690,RNASE7,156,Ribonuclease 7; Exhibits a potent RNase activity. Has broad-spectrum antimicrobial activity against many pathogenic microorganisms and remarkably potent activity (lethal dose of 90% < 30 nM) against a vancomycin resistant Enterococcus faecium. Causes loss of bacterial membrane integrity. Probably contributes to urinary tract sterility. Bactericidal activity is independent of RNase activity. Belongs to the pancreatic ribonuclease family. 9606.ENSP00000298694,ARHGEF40,1519,Rho guanine nucleotide exchange factor 40; May act as a guanine nucleotide exchange factor (GEF). 9606.ENSP00000298699,C12orf50,414,Uncharacterized protein C12orf50; Chromosome 12 open reading frame 50. 9606.ENSP00000298705,PPP1R36,422,Protein phosphatase 1 regulatory subunit 36; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. 9606.ENSP00000298717,METTL3,580,"N6-adenosine-methyltransferase catalytic subunit; The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some RNAs and regulates various processes such as the circadian clock, differentiation of embryonic and hematopoietic stem cells, cortical neurogenesis, response to DNA damage, differentiation of T-cells and primary miRNA processing. In the heterodimer formed with METTL14, METTL3 constitutes the catalytic core. N6- methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays [...] " 9606.ENSP00000298738,ERICH6B,696,Glutamate-rich protein 6B; Glutamate rich 6B. 9606.ENSP00000298743,GAS1,345,Growth arrest-specific protein 1; Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells. 9606.ENSP00000298746,TRUB1,349,"Probable tRNA pseudouridine synthase 1; Pseudouridine synthase that catalyzes pseudouridylation of mRNAs. Mediates pseudouridylation of mRNAs with the consensus sequence 5'-GUUCNANNC-3', harboring a stem-loop structure. Constitutes the major pseudouridine synthase acting on mRNAs ; Belongs to the pseudouridine synthase TruB family." 9606.ENSP00000298767,WAPL,1190,Wings apart-like protein homolog; Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin. Involved in both sister chromatid cohesion during interphase and sister-chromatid resolution during early stages of mitosis. Couples DNA replication to sister chromatid cohesion. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Belongs to the WAPL family. 9606.ENSP00000298786,SHLD2,904,"Shieldin complex subunit 2; Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres ; Belongs to the SHLD2 family." 9606.ENSP00000298815,ARHGAP42,874,Rho GTPase-activating protein 42; May influence blood pressure by functioning as a GTPase- activating protein for RHOA in vascular smooth muscle. 9606.ENSP00000298832,TTLL5,1281,Tubulin polyglutamylase TTLL5; Polyglutamylase which preferentially modifies alpha-tubulin (By similarity). Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction. Belongs to the tubulin--tyrosine ligase family. 9606.ENSP00000298854,RAPSN,412,"43 kDa receptor-associated protein of the synapse; Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin." 9606.ENSP00000298875,CPSF2,782,"Cleavage and polyadenylation specificity factor subunit 2; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing. Belongs to the metallo-beta-lactamase superfamily. RNA- metabolizing metallo-beta-lactamase-like family. CPSF2/YSH1 subfamily." 9606.ENSP00000298892,CAPRIN2,1077,"Caprin-2; Promotes phosphorylation of the Wnt coreceptor LRP6, leading to increased activity of the canonical Wnt signaling pathway. Facilitates constitutive LRP6 phosphorylation by CDK14/CCNY during G2/M stage of the cell cycle, which may potentiate cells for Wnt signaling. May regulate the transport and translation of mRNAs, modulating for instance the expression of proteins involved in synaptic plasticity in neurons (By similarity). Involved in regulation of growth as erythroblasts shift from a highly proliferative state towards their terminal phase of differentiation. May be involv [...] " 9606.ENSP00000298910,LRRK2,2527,"Leucine-rich repeat serine/threonine-protein kinase 2; Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, autophagy, and vesicle trafficking. Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation. Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43. Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A. Inhibits the inte [...] " 9606.ENSP00000298912,CLMN,1002,Calmin. 9606.ENSP00000298925,NELL1,838,Protein kinase C-binding protein NELL1; Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization. 9606.ENSP00000298943,C1QL3,255,"Complement C1q-like protein 3; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). Plays a role in glucose homeostasis. Via AMPK signaling pathway, stimulates glucose uptake in adipocytes, myotubes and hepatocytes and enhances insulin-stimulated glucose uptake. In a hepatoma cell line, reduces the expression of gluconeogenic enzymes G6PC and PCK1 and hence decreases de novo glucose production (By similarity)." 9606.ENSP00000298966,SMCO4,59,Single-pass membrane protein with coiled-coil domains 4; Belongs to the SMCO4 family. 9606.ENSP00000299001,PIWIL4,852,"Piwi-like protein 4; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from [...] " 9606.ENSP00000299022,LIPC,499,"Hepatic triacylglycerol lipase; Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin." 9606.ENSP00000299045,TCP11L2,519,T-complex protein 11-like protein 2; T-complex 11 like 2; Belongs to the TCP11 family. 9606.ENSP00000299084,SPRED1,444,"Sprouty-related, EVH1 domain-containing protein 1; Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow (By similarity)." 9606.ENSP00000299088,C14orf93,538,Uncharacterized protein C14orf93; Chromosome 14 open reading frame 93. 9606.ENSP00000299106,JAM3,310,"Junctional adhesion molecule C; Junctional adhesion protein that mediates heterotypic cell- cell interactions with its cognate receptor JAM2 to regulate different cellular processes. Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3. Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JA [...] " 9606.ENSP00000299138,VPS35,796,"Vacuolar protein sorting-associated protein 35; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may [...] " 9606.ENSP00000299140,SPATA19,167,"Spermatogenesis-associated protein 19, mitochondrial; May have a role in spermiogenesis." 9606.ENSP00000299155,AMN,453,Soluble protein amnionless; Membrane-bound component of the endocytic receptor formed by AMN and CUBN. Required for normal CUBN glycosylation and trafficking to the cell surface. The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12. Required for normal CUBN-mediated protein transport in the kidney (Probable). 9606.ENSP00000299157,IKBIP,377,IKBKB interacting protein. 9606.ENSP00000299162,FOXN4,517,"Forkhead box protein N4; Transcription factor essential for neural and some non-neural tissues development, such as retina and lung respectively. Binds to an 11-bp consensus sequence containing the invariant tetranucleotide 5'- ACGC-3'. During development of the central nervous system, is required to specify the amacrine and horizontal cell fates from multipotent retinal progenitors while suppressing the alternative photoreceptor cell fates through activating DLL4-NOTCH signaling. Also acts synergistically with ASCL1/MASH1 to activate DLL4-NOTCH signaling and drive commitment of p2 pro [...] " 9606.ENSP00000299163,HIF1AN,349,"Hypoxia-inducible factor 1-alpha inhibitor; Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylat [...] " 9606.ENSP00000299164,ADAMTS15,950,ADAM metallopeptidase with thrombospondin type 1 motif 15. 9606.ENSP00000299166,NDUFB8,186,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000299178,AVPR1A,418,"Vasopressin V1a receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily." 9606.ENSP00000299191,C16orf78,265,Uncharacterized protein C16orf78; Chromosome 16 open reading frame 78. 9606.ENSP00000299192,HEATR3,680,HEAT repeat containing 3. 9606.ENSP00000299198,CKB,381,"Creatine kinase B-type; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa." 9606.ENSP00000299213,LARP6,491,"La-related protein 6; Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2. Stabilizes mRNAs through high-affinity binding of a stem-loop structure in their 5' UTR. This regulation requires VIM and MYH10 filaments, and the helicase DHX9." 9606.ENSP00000299237,ZNF319,582,Zinc finger protein 319; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000299238,HPS6,775,"Hermansky-Pudlak syndrome 6 protein; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Acts as cargo adapter for the dynein- dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning." 9606.ENSP00000299259,COPS2,450,"COP9 signalosome complex subunit 2; Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kina [...] " 9606.ENSP00000299295,CHODL,273,Chondrolectin; May play a role in the development of the nervous system such as in neurite outgrowth and elongation. May be involved in motor axon growth and guidance. 9606.ENSP00000299299,PCBD1,104,Pterin-4-alpha-carbinolamine dehydratase; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity; Belongs to the pterin-4-alpha-carbinolamine dehydratase family. 9606.ENSP00000299300,CCT2,535,"T-complex protein 1 subunit beta; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000299308,TMEM132B,1078,Transmembrane protein 132B; Belongs to the TMEM132 family. 9606.ENSP00000299314,GNPTAB,1256,"N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment." 9606.ENSP00000299320,C16orf71,520,Uncharacterized protein C16orf71; Chromosome 16 open reading frame 71. 9606.ENSP00000299335,COX11,276,"Cytochrome c oxidase assembly protein COX11, mitochondrial; Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I." 9606.ENSP00000299338,FAM227B,508,Protein FAM227B; Family with sequence similarity 227 member B. 9606.ENSP00000299339,CLDN10,228,"Claudin-10; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in the regulation of paracellular epithelia permeability to ions in multiple organs. It acts as a paracellular ion channel probably forming permselective pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. In sweat glands and in the thick ascending limb (TAL) of Henle's loop in kidney, it controls paracellular sodium permeability which is essential for proper sweat production an [...] " 9606.ENSP00000299340,CYYR1,154,Cysteine and tyrosine rich 1. 9606.ENSP00000299367,C2,752,"Complement C2a fragment; Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase; Belongs to the peptidase S1 family." 9606.ENSP00000299413,TRIM44,344,Tripartite motif-containing protein 44; May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression. 9606.ENSP00000299415,CCDC182,153,Coiled-coil domain containing 182. 9606.ENSP00000299424,TAF10,218,"Transcription initiation factor TFIID subunit 10; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors." 9606.ENSP00000299427,TPP1,563,Tripeptidyl-peptidase 1; Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus. 9606.ENSP00000299432,MSS51,460,"Putative protein MSS51 homolog, mitochondrial; MSS51 mitochondrial translational activator." 9606.ENSP00000299440,RAG1,1043,"V(D)J recombination-activating protein 1; Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break [...] " 9606.ENSP00000299441,DCHS1,3298,"Protocadherin-16; Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation." 9606.ENSP00000299443,POTED,584,POTE ankyrin domain family member D; Belongs to the POTE family. 9606.ENSP00000299454,OR10A5,317,Olfactory receptor 10A5; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000299459,OR2D2,308,Olfactory receptor 2D2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000299481,NLRP14,1093,"NACHT, LRR and PYD domains-containing protein 14; May be involved in inflammation and spermatogenesis." 9606.ENSP00000299492,PPFIBP2,876,Liprin-beta-2; May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. Belongs to the liprin family. Liprin-beta subfamily. 9606.ENSP00000299505,KIAA0355,1070,Uncharacterized protein KIAA0355. 9606.ENSP00000299518,IDH3A,366,"Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial; Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers." 9606.ENSP00000299529,CRABP1,137,Cellular retinoic acid-binding protein 1; Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. 9606.ENSP00000299563,RNF169,708,"E3 ubiquitin-protein ligase RNF169; Probable E3 ubiquitin-protein ligase that acts as a negative regulator of double-strand breaks (DSBs) repair following DNA damage. Recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168 and competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby acting as a negative regulator of DSBs repair. E3 ubiquitin-protein ligase activity is not required for regulation of DSBs repair." 9606.ENSP00000299565,CHRNA5,468,"Neuronal acetylcholine receptor subunit alpha-5; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane." 9606.ENSP00000299575,ATMIN,823,ATM interactor; Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription. 9606.ENSP00000299578,C16orf46,395,Uncharacterized protein C16orf46; Chromosome 16 open reading frame 46. 9606.ENSP00000299601,LEO1,666,"RNA polymerase-associated protein LEO1; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox [...] " 9606.ENSP00000299608,TMX3,454,"Protein disulfide-isomerase TMX3; Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase." 9606.ENSP00000299626,ALG8,526,"Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide (By similarity). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity); Belongs to the ALG6/ALG8 glucosyltransferase family." 9606.ENSP00000299633,HDGFL3,203,Hepatoma-derived growth factor-related protein 3; Enhances DNA synthesis and may play a role in cell proliferation. 9606.ENSP00000299638,POLR2M,368,"DNA-directed RNA polymerase II subunit GRINL1A; Isoform 1 appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcription machinery. Isoform 1 may play a role in the Mediator complex-dependent regulation of transcription activation. Isoform 1 acts in vitro as a negative regulator of transcriptional activation; this repression is relieved by the Mediator complex, which restores Pol II(G) activator-dependent transcr [...] " 9606.ENSP00000299663,CLEC4E,219,"C-type lectin domain family 4 member E; A calcium-dependent lectin that acts as a pattern recognition receptor of the innate immune system. Recognizes damage-associated molecular patterns (DAMPs) of abnormal self and pathogen-associated molecular patterns (PAMPs) of bacteria and fungi. The PAMPs notably include mycobacterial trehalose 6,6'-dimycolate (TDM), a cell wall glycolipid with potent adjuvant immunomodulatory functions. Interacts with signaling adapter Fc receptor gamma chain/FCER1G to form a functional complex in myeloid cells. Binding of mycobacterial trehalose 6,6'-dimycolat [...] " 9606.ENSP00000299665,CLEC4D,215,"C-type lectin domain family 4 member D; A calcium-dependent lectin involved in innate recognition of pathogen-associated molecular patterns (PAMPs). Interacts with signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells (By similarity). Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and s [...] " 9606.ENSP00000299687,ZNF407,2248,Zinc finger protein 407; May be involved in transcriptional regulation. 9606.ENSP00000299697,TK2,265,"Thymidine kinase 2, mitochondrial; Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK. Widely used as target of antiviral and chemotherapeutic agents; Belongs to the DCK/DGK family." 9606.ENSP00000299698,A2ML1,1454,"Alpha-2-macroglobulin-like protein 1; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and [...] " 9606.ENSP00000299705,TMED3,217,"Transmembrane emp24 domain-containing protein 3; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. Belongs to the EMP24/GP25L family." 9606.ENSP00000299709,SLC38A8,435,Putative sodium-coupled neutral amino acid transporter 8; Putative sodium-dependent amino acid/proton antiporter. Belongs to the amino acid/polyamine transporter 2 family. 9606.ENSP00000299721,CPLX4,160,Complexin-4; Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity). [...] 9606.ENSP00000299727,GALR1,349,Galanin receptor type 1; Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000299736,CENPV,272,"Centromere protein V; Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis; Belongs to the Gfa family." 9606.ENSP00000299752,CDH16,829,Cadherin-16; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000299766,MC4R,332,"Melanocortin receptor 4; Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP)." 9606.ENSP00000299767,HSP90B1,803,"Endoplasmin; Molecular chaperone that functions in the processing and transport of secreted proteins (By similarity). When associated with CNPY3, required for proper folding of Toll-like receptors (By similarity). Functions in endoplasmic reticulum associated degradation (ERAD). Has ATPase activity (By similarity). Belongs to the heat shock protein 90 family." 9606.ENSP00000299798,SLC9A5,896,Sodium/hydrogen exchanger 5; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction (By similarity). 9606.ENSP00000299821,NCAPH2,606,"Condensin-2 complex subunit H2; Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture. May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Required for decatenation of chromatin bridges at anaphase. Early in [...] " 9606.ENSP00000299824,PPP1R16B,567,"Protein phosphatase 1 regulatory inhibitor subunit 16B; Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function. Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation. Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity (By similarity). Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage (By similarity). Involved in the regulation of endothelial cel [...] " 9606.ENSP00000299847,CHRFAM7A,412,CHRNA7-FAM7A fusion protein; CHRNA7 fusion. 9606.ENSP00000299853,POLR3E,708,"DNA-directed RNA polymerase III subunit RPC5; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA th [...] " 9606.ENSP00000299855,MMP3,477,"Stromelysin-1; Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase; Belongs to the peptidase M10A family." 9606.ENSP00000299866,TVP23A,213,Trans-golgi network vesicle protein 23 homolog A; Belongs to the TVP23 family. 9606.ENSP00000299871,ZNF211,629,Zinc finger protein 211; May be involved in transcriptional regulation. 9606.ENSP00000299882,TMPRSS5,457,Transmembrane protease serine 5; May play a role in hearing; Belongs to the peptidase S1 family. 9606.ENSP00000299886,COG1,980,Conserved oligomeric Golgi complex subunit 1; Required for normal Golgi function. 9606.ENSP00000299952,MARVELD3,410,MARVEL domain containing 3. 9606.ENSP00000299957,CASC4,436,Protein CASC4; Belongs to the GOLM1/CASC4 family. 9606.ENSP00000299977,SLFN5,891,Schlafen family member 5; May have a role in hematopoietic cell differentiation. Belongs to the Schlafen family. Subgroup III subfamily. 9606.ENSP00000300006,BMERB1,204,bMERB domain containing 1. 9606.ENSP00000300026,PPIB,216,Peptidyl-prolyl cis-trans isomerase B; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. 9606.ENSP00000300030,CIAO2A,160,"Cytosolic iron-sulfur assembly component 2A; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation. May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 ; Belongs to the MIP18 family." 9606.ENSP00000300035,PCLAF,111,"PCNA-associated factor; PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork- blocking lesions. Also acts as a regulator of centrosome number." 9606.ENSP00000300051,LDHD,507,"Probable D-lactate dehydrogenase, mitochondrial; Involved in D-lactate, but not L-lactate catabolic process. Belongs to the FAD-binding oxidoreductase/transferase type 4 family." 9606.ENSP00000300055,PLIN1,522,Perilipin-1; Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels. Belongs to the perilipin family. 9606.ENSP00000300056,PEX11A,247,Peroxisomal membrane protein 11A; May be involved in peroxisomal proliferation and may regulate peroxisomes division. May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface. 9606.ENSP00000300057,MESP1,268,Mesoderm posterior protein 1; Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity). 9606.ENSP00000300060,ANPEP,967,"Aminopeptidase N; Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization. May have a role in amino acid transport by acting as binding [...] " 9606.ENSP00000300061,SCNN1G,649,"Amiloride-sensitive sodium channel subunit gamma; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception." 9606.ENSP00000300069,RBPMS2,209,"RNA-binding protein with multiple splicing 2; RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system. Binds NOG mRNA, the major inhibitor of the bone morphogenetic protein (BMP) pathway. Mediates an increase of NOG mRNA levels, thereby contributing to the negative regulation of BMP signaling pathway and promoting reversible dedifferentiation and proliferation of smooth muscle cells (By similarity)." 9606.ENSP00000300079,GLYATL1,333,Glycine N-acyltransferase-like protein 1; Acyltransferase which transfers an acyl group to the N- terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor. Belongs to the glycine N-acyltransferase family. 9606.ENSP00000300086,TERF2IP,399,"Telomeric repeat-binding factor 2-interacting protein 1; Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)- mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology- directed repair ( [...] " 9606.ENSP00000300087,DCTN5,182,Dynactin subunit 5; Belongs to the dynactin subunits 5/6 family. Dynactin subunit 5 subfamily. 9606.ENSP00000300093,PLK1,603,"Serine/threonine-protein kinase PLK1; Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase- promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis. Polo-like kinase proteins acts by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates BORA, BUB1B/BUBR1, C [...] " 9606.ENSP00000300098,GPR182,404,G-protein coupled receptor 182; Orphan receptor. 9606.ENSP00000300101,ZBTB39,712,Zinc finger and BTB domain-containing protein 39; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000300105,CACNG2,323,"Voltage-dependent calcium channel gamma-2 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily." 9606.ENSP00000300107,CLPX,633,"ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP. Targets specific substrates for degradation by the Clp complex. Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure. ATP-dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5- aminolevulinate (ALA) synthesis, the first step in h [...] " 9606.ENSP00000300113,CHP2,196,"Calcineurin B homologous protein 2; Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation-induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to th [...] " 9606.ENSP00000300127,OR4D6,314,Olfactory receptor 4D6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000300128,NEMP1,444,Nuclear envelope integral membrane protein 1. 9606.ENSP00000300131,NAB2,525,NGFI-A-binding protein 2; Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability (By similarity); Belongs to the NAB family. 9606.ENSP00000300134,STAT6,847,Signal transducer and activator of transcription 6; Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling. 9606.ENSP00000300145,ATP23,246,Mitochondrial inner membrane protease ATP23 homolog; ATP23 metallopeptidase and ATP synthase assembly factor homolog. 9606.ENSP00000300146,PATL1,770,"Protein PAT1 homolog 1; RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs. Acts as a scaffold protein that connects deadenylation and decapping machinery. Required for cytoplasmic mRNA processing body (P-body) assembly. In case of infection, required for translation and replication of hepatitis C virus (HCV). Belongs to the PAT1 family." 9606.ENSP00000300151,MRPL16,251,Mitochondrial ribosomal protein L16; Belongs to the universal ribosomal protein uL16 family. 9606.ENSP00000300175,SCG5,212,"Neuroendocrine protein 7B2; Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro." 9606.ENSP00000300176,AGFG2,481,Arf-GAP domain and FG repeat-containing protein 2; ArfGAP with FG repeats 2. 9606.ENSP00000300179,NYAP1,841,Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1; Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis. Belongs to the NYAP family. 9606.ENSP00000300181,TSC22D4,395,TSC22 domain family protein 4; Transcriptional repressor. 9606.ENSP00000300182,MS4A6E,147,Membrane-spanning 4-domains subfamily A member 6E; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000300184,MS4A7,240,Membrane-spanning 4-domains subfamily A member 7; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family. 9606.ENSP00000300190,MS4A5,200,Membrane-spanning 4-domains subfamily A member 5; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000300209,EEF1AKMT3,226,"EEF1A lysine methyltransferase 3; Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at 'Lys-165' in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation; Belongs to the methyltransferase superfamily. METTL21 family." 9606.ENSP00000300213,CCNDBP1,360,"Cyclin-D1-binding protein 1; May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription." 9606.ENSP00000300226,MS4A8,250,Membrane-spanning 4-domains subfamily A member 8; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000300231,MAP1A,2803,Microtubule-associated protein 1A; Structural protein involved in the filamentous cross-bridging between microtubules and other skeletal elements. 9606.ENSP00000300245,AKTIP,293,AKT-interacting protein; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade. 9606.ENSP00000300249,MAPRE2,327,"Microtubule-associated protein RP/EB family member 2; May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity); Belongs to the MAPRE family." 9606.ENSP00000300255,EVA1C,441,Protein eva-1 homolog C; Binds heparin; Belongs to the EVA1 family. 9606.ENSP00000300258,TCP10L,215,T-complex protein 10A homolog 1; May be involved in transcriptional regulation. Has in vitro transcription inhibition activity. Acts as a tumor suppressor in hepatocellular carcinoma (HCC) cells. 9606.ENSP00000300283,CKMT1B,417,"Creatine kinase U-type, mitochondrial; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa." 9606.ENSP00000300289,PDIA3,505,Protein disulfide-isomerase A3; Protein disulfide isomerase family A member 3; Belongs to the protein disulfide isomerase family. 9606.ENSP00000300291,NUDT21,227,"Cleavage and polyadenylation specificity factor subunit 5; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The [...] " 9606.ENSP00000300303,NAT16,369,Probable N-acetyltransferase 16; Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown. 9606.ENSP00000300305,RUNX1,480,"Runt-related transcription factor 1; Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'- TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T [...] " 9606.ENSP00000300403,TPX2,747,"Targeting protein for Xklp2; Spindle assembly factor required for normal assembly of mitotic spindles. Required for normal assembly of microtubules during apoptosis. Required for chromatin and/or kinetochore dependent microtubule nucleation. Mediates AURKA localization to spindle microtubules. Activates AURKA by promoting its autophosphorylation at 'Thr-288' and protects this residue against dephosphorylation. TPX2 is inactivated upon binding to importin-alpha. At the onset of mitosis, GOLGA2 interacts with importin-alpha, liberating TPX2 from importin-alpha, allowing TPX2 to activates [...] " 9606.ENSP00000300404,B4GALNT2,566,"Beta-1,4 N-acetylgalactosaminyltransferase 2; Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3- [GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain." 9606.ENSP00000300413,SNRPD1,119,"Small nuclear ribonucleoprotein Sm D1; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with R [...] " 9606.ENSP00000300433,TMEM92,159,Transmembrane protein 92. 9606.ENSP00000300452,COQ4,265,"Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial; Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides; Belongs to the COQ4 family." 9606.ENSP00000300456,SLC27A4,643,Long-chain fatty acid transport protein 4; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity); [...] 9606.ENSP00000300504,TBC1D21,336,"TBC1 domain family member 21; May act as a GTPase-activating protein for Rab family protein(s). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity." 9606.ENSP00000300527,COL6A2,1019,Collagen alpha-2(VI) chain; Collagen VI acts as a cell-binding protein. 9606.ENSP00000300557,PRR15L,103,Proline-rich protein 15-like protein; Proline rich 15 like; Belongs to the PRR15 family. 9606.ENSP00000300571,GPRC5B,403,G-protein coupled receptor family C group 5 member B; Unknown. This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways. 9606.ENSP00000300574,CRK,304,"Adapter molecule crk; [Isoform Crk-II]: Regulates cell adhesion, spreading and migration. Mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4. May regulate the EFNA5-EPHA3 signaling." 9606.ENSP00000300575,C16orf92,132,Uncharacterized protein C16orf92; Chromosome 16 open reading frame 92. 9606.ENSP00000300576,GOLGA6C,693,Golgin A6 family member C; Belongs to the GOLGA6 family. 9606.ENSP00000300584,TBC1D2B,963,TBC1 domain family member 2B; May act as a GTPase-activating protein. 9606.ENSP00000300589,NOD2,1040,"Nucleotide-binding oligomerization domain-containing protein 2; Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macroph [...] " 9606.ENSP00000300605,HDHD2,259,Haloacid dehalogenase like hydrolase domain containing 2. 9606.ENSP00000300619,ZNF91,1191,"Zinc finger protein 91; Transcription factor specifically required to repress SINE- VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1. May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidence is required to confirm this result in vivo. Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000300648,GCN1,2671,"eIF-2-alpha kinase activator GCN1; Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA-binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene- specific mRNA translation activation, such as the transcriptional activator ATF4, by pr [...] " 9606.ENSP00000300650,RNF214,703,Ring finger protein 214. 9606.ENSP00000300651,MED1,1581,"Mediator of RNA polymerase II transcription subunit 1; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Acts as a coactivator for [...] " 9606.ENSP00000300658,PGAP3,320,Post-GPI attachment to proteins factor 3; Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable); Belongs to the PGAP3 family. 9606.ENSP00000300659,NFATC3,1075,"Nuclear factor of activated T-cells, cytoplasmic 3; Acts as a regulator of transcriptional activation. Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2. Along with NFATC4, involved in embryonic heart development (By similarity)." 9606.ENSP00000300688,ATP5MG,103,"ATP synthase subunit g, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...] " 9606.ENSP00000300692,CD3D,171,"T-cell surface glycoprotein CD3 delta chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR- mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of [...] " 9606.ENSP00000300738,RRM1,792,Ribonucleoside-diphosphate reductase large subunit; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. 9606.ENSP00000300747,TRIM68,485,E3 ubiquitin-protein ligase TRIM68; Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity. 9606.ENSP00000300773,OR51B5,312,Olfactory receptor 51B5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000300778,OR51Q1,317,Olfactory receptor 51Q1; Odorant receptor. 9606.ENSP00000300784,FN3K,309,"Fructosamine-3-kinase; Fructosamine-3-kinase involved in protein deglycation by mediating phosphorylation of fructoselysine residues on glycated proteins, to generate fructoselysine-3 phosphate. Fructoselysine-3 phosphate adducts are unstable and decompose under physiological conditions. Involved in intracellular deglycation in erythrocytes. Involved in the response to oxidative stress by mediating deglycation of NFE2L2/NRF2, glycation impairing NFE2L2/NRF2 function (By similarity). Also able to phosphorylate psicosamines and ribulosamines." 9606.ENSP00000300811,ZNF428,188,Zinc finger protein 428. 9606.ENSP00000300850,ZNF646,1832,Zinc finger protein 646; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000300870,ZNF267,743,Zinc finger protein 267; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000300873,GNG8,70,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000300896,USP32,1604,Ubiquitin specific peptidase 32; Belongs to the peptidase C19 family. 9606.ENSP00000300900,CA4,312,"Carbonic anhydrase 4; Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid; Belongs to the alpha-carbonic anhydrase family." 9606.ENSP00000300935,RAB8A,207,"Ras-related protein Rab-8A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes t [...] " 9606.ENSP00000300952,MIDN,468,Midnolin; Facilitates ubiquitin-independent proteasomal degradation of polycomb protein CBX4. Plays a role in inhibiting the activity of glucokinase GCK and both glucose-induced and basal insulin secretion. 9606.ENSP00000300954,PCSK4,755,"Proprotein convertase subtilisin/kexin type 4; Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be throu [...] " 9606.ENSP00000300961,JSRP1,331,"Junctional sarcoplasmic reticulum protein 1; Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity." 9606.ENSP00000300976,KLHL26,615,Kelch-like protein 26; Kelch like family member 26. 9606.ENSP00000301012,MVD,400,Diphosphomevalonate decarboxylase; Performs the first committed step in the biosynthesis of isoprenes. 9606.ENSP00000301015,PIEZO1,2521,"Piezo-type mechanosensitive ion channel component 1; Pore-forming subunit of a mechanosensitive non-specific cation channel. Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R- Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling. In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor t [...] " 9606.ENSP00000301019,CDT1,546,"DNA replication factor Cdt1; Required for both DNA replication and mitosis. DNA replication licensing factor, required for pre- replication complex assembly. Cooperates with CDC6 and the origin recognition complex (ORC) during G1 phase of the cell cycle to promote the loading of the mini-chromosome maintenance (MCM) complex onto DNA to generate pre-replication complexes (pre-RC). Required also for mitosis by promoting stable kinetochore-microtubule attachments. Potential oncogene (By similarity). Belongs to the Cdt1 family." 9606.ENSP00000301030,ANKRD11,2663,Ankyrin repeat domain-containing protein 11; Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Has a role in proliferation and development of cortical neural precursors. May also regulate bone homeostasis (By similarity). 9606.ENSP00000301037,RSKR,410,Ribosomal protein S6 kinase related; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. 9606.ENSP00000301039,PROCA1,336,Protein interacting with cyclin A1; Belongs to the PROCA1 family. 9606.ENSP00000301046,LALBA,142,"Alpha-lactalbumin; Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N- acetylglucosamine of the oligosaccharide chains in glycoproteins; Belongs to the glycosyl hydrolase 22 family." 9606.ENSP00000301050,CACNB3,484,Voltage-dependent L-type calcium channel subunit beta-3; Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents. Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). 9606.ENSP00000301057,TP53I13,393,"Tumor protein p53-inducible protein 13; May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed." 9606.ENSP00000301061,WNT10B,389,"Protein Wnt-10b; Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin." 9606.ENSP00000301067,KMT2D,5537,"Histone-lysine N-methyltransferase 2D; Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily." 9606.ENSP00000301068,RHEBL1,183,"GTPase RhebL1; Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2." 9606.ENSP00000301141,CYP2A6,494,"Cytochrome P450 2A6; Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo- monooxygenase. Possesses low phenacetin O-deethylation activity." 9606.ENSP00000301146,CYP2A7,494,"Cytochrome P450 2A7; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics." 9606.ENSP00000301149,GPD1,349,Glycerol-3-phosphate dehydrogenase 1; Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family. 9606.ENSP00000301159,LIN37,246,Protein lin-37 homolog; Lin-37 DREAM MuvB core complex component. 9606.ENSP00000301175,PRODH2,536,"Hydroxyproline dehydrogenase; Dehydrogenase that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone-10 as the terminal electron acceptor. Can also use proline as a substrate but with a very much lower efficiency. Does not react with other diastereomers of Hyp: trans-4-D-hydroxyproline and cis-4-L- hydroxyproline. Ubiquininone analogs such as menadione, duroquinone and ubiquinone-1 react more efficiently than oxygen as the terminal electron acceptor during catalysis." 9606.ENSP00000301178,AXL,894,"Tyrosine-protein kinase receptor UFO; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, ALX binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates [...] " 9606.ENSP00000301180,DIP2B,1576,Disco interacting protein 2 homolog B. 9606.ENSP00000301190,ANKRD33,452,Photoreceptor ankyrin repeat protein; Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation. 9606.ENSP00000301200,CDC42EP5,148,Cdc42 effector protein 5; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (By similarity); Belongs to the BORG/CEP family. 9606.ENSP00000301202,LAIR2,152,Leukocyte associated immunoglobulin like receptor 2. 9606.ENSP00000301204,TMEM145,493,Transmembrane protein 145. 9606.ENSP00000301215,ZNF526,670,Zinc finger protein 526; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000301218,GRIK5,981,"Glutamate receptor ionotropic, kainate 5; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds kainate > quisqualate > domoate > L-glutamate >> AMPA >> NMDA = 1S,3R- ACPD; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK5 subfamily." 9606.ENSP00000301242,PPP1R14A,147,"Protein phosphatase 1 regulatory subunit 14A; Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction." 9606.ENSP00000301244,SPINT2,252,"Kunitz-type protease inhibitor 2; Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa." 9606.ENSP00000301246,C19orf33,106,Immortalization up-regulated protein; Chromosome 19 open reading frame 33. 9606.ENSP00000301258,PSCA,114,Prostate stem cell antigen; May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro. 9606.ENSP00000301263,LY6D,128,Lymphocyte antigen 6D; May act as a specification marker at earliest stage specification of lymphocytes between B- and T-cell development. Marks the earliest stage of B-cell specification. 9606.ENSP00000301272,TMIGD2,282,"Transmembrane and immunoglobulin domain-containing protein 2; Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade." 9606.ENSP00000301280,CHAF1A,956,"Chromatin assembly factor 1 subunit A; Core component of the CAF-1 complex, a complex thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. CHAF1A binds to histones H3 and H4. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly [...] " 9606.ENSP00000301281,UBXN6,441,"UBX domain-containing protein 6; May negatively regulate the ATPase activity of VCP, an ATP- driven segregase that associates with different cofactors to control a wide variety of cellular processes. As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation. It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes." 9606.ENSP00000301295,NLRP4,994,"NACHT, LRR and PYD domains-containing protein 4; May be involved in inflammation and recognition of cytosolic pathogen-associated molecular patterns (PAMPs) not intercepted by membrane-bound receptors. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4- mediated ubiquitination of activated TBK1, and its subsequent degradation. Suppresses NF-kappaB induction by the cytokines TNFA and IL1B, suggesting that it operates at a point of convergence in these two cytokine signaling pathways." 9606.ENSP00000301305,SLC39A4,647,Zinc transporter ZIP4; Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity). 9606.ENSP00000301310,ZNF582,517,Zinc finger protein 582; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000301318,ZFP28,868,Zinc finger protein 28 homolog; May be involved in transcriptional regulation. May have a role in embryonic development. 9606.ENSP00000301327,MFSD3,412,Major facilitator superfamily domain containing 3. 9606.ENSP00000301329,GLOD4,298,Glyoxalase domain containing 4. 9606.ENSP00000301332,KIFC2,838,Kinesin-like protein KIFC2; May play a role in microtubule-dependent retrograde axonal transport. May function as the motor for the transport of multivesicular body (MVB)-like organelles in dendrites (By similarity). 9606.ENSP00000301336,RILP,401,Rab-interacting lysosomal protein; Rab effector playing a role in late endocytic transport to degradative compartments. Involved in the regulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes. 9606.ENSP00000301364,TSR1,804,Pre-rRNA-processing protein TSR1 homolog; Required during maturation of the 40S ribosomal subunit in the nucleolus; Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. TSR1 subfamily. 9606.ENSP00000301365,TRPV3,791,Transient receptor potential cation channel subfamily V member 3; Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen). 9606.ENSP00000301391,CYB5D2,264,Neuferricin; Heme-binding protein which promotes neuronal but not astrocyte differentiation. 9606.ENSP00000301396,PELP1,1180,"Proline-, glutamic acid- and leucine-rich protein 1; Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/g [...] " 9606.ENSP00000301399,ZNF577,485,Zinc finger protein 577; May be involved in transcriptional regulation. 9606.ENSP00000301407,CGB1,155,Chorionic gonadotropin subunit beta 1. 9606.ENSP00000301408,CGB5,165,"Choriogonadotropin subunit beta 3; Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role in pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy." 9606.ENSP00000301420,KLK1,262,Kallikrein-1; Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin; Belongs to the peptidase S1 family. Kallikrein subfamily. 9606.ENSP00000301452,ACER1,264,"Alkaline ceramidase 1; Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1- phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acid [...] " 9606.ENSP00000301454,SLC25A23,468,"Calcium-binding mitochondrial carrier protein SCaMC-3; Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP- Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria. Acts as a regulator of mitochondrial calcium uptake via interaction with MCU and MICU1." 9606.ENSP00000301455,ANGPTL4,406,"Angiopoietin-related protein 4; Mediates inactivation of the lipoprotein lipase LPL, and thereby plays a role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism. May also play a role in regulating glucose homeostasis and insulin sensitivity (Probable). Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage. Upon heterologous expression, inhibits the adhesion of endothelial cell to the extracellular matrix (ECM), and inhibits the reorganization of the actin cytoskeleton, formation of actin stress fi [...] " 9606.ENSP00000301457,NDUFA7,113,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000301458,CD320,282,CD320 antigen; Receptor for transcobalamin saturated with cobalamin (TCbl). Plays an important role in cobalamin uptake. Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells. Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation. Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC). CD320 augments the proliferation of PC precursors gen [...] 9606.ENSP00000301459,RCOR2,523,REST corepressor 2; May act as a component of a corepressor complex that represses transcription. 9606.ENSP00000301463,SPRYD3,442,SPRY domain containing 3. 9606.ENSP00000301464,IGFBP6,240,Insulin-like growth factor-binding protein 6; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. 9606.ENSP00000301466,SOAT2,522,"Sterol O-acyltransferase 2; Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa; Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily." 9606.ENSP00000301480,ZNF560,790,Zinc finger protein 560; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000301488,CDK2AP2,126,Cyclin-dependent kinase 2-associated protein 2; Plays a role in regulating the self-renewal of embryonic stem cells (ESCs) and in maintaining cell survival during terminal differentiation of ESCs. Regulates microtubule organization of metaphase II oocytes (By similarity). Inhibits cell cycle G1/S phase transition by repressing CDK2 expression and activation; represses CDK2 activation by inhibiting its interaction with cyclin E and A. 9606.ENSP00000301522,PRDX2,198,"Peroxiredoxin-2; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2)." 9606.ENSP00000301532,OR5I1,314,Olfactory receptor 5I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000301547,ZNF443,671,Zinc finger protein 443; May be involved in transcriptional regulation. 9606.ENSP00000301585,MRPL58,206,"Peptidyl-tRNA hydrolase ICT1, mitochondrial; Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes." 9606.ENSP00000301587,ATP5PD,161,"ATP synthase subunit d, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...] " 9606.ENSP00000301599,TMEM88,159,Transmembrane protein 88; Inhibits the Wnt/beta-catenin signaling pathway. Crucial for heart development and acts downstream of GATA factors in the pre- cardiac mesoderm to specify lineage commitment of cardiomyocyte development. 9606.ENSP00000301633,BIRC5,165,Baculoviral IAP repeat-containing protein 5; Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis. Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis. Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with polymerized microtubules. Involve [...] 9606.ENSP00000301645,CYP7A1,504,"Cytochrome P450 7A1; A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting st [...] " 9606.ENSP00000301653,KRT16,473,"Keratin, type I cytoskeletal 16; Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance; Belongs to the intermediate filament family." 9606.ENSP00000301656,KRT27,459,"Keratin, type I cytoskeletal 27; Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs)." 9606.ENSP00000301659,GSDMA,445,"Gasdermin-A; May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)- bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity. The physiological relevance of these observations is unknown (Probable)." 9606.ENSP00000301671,GHDC,530,GH3 domain-containing protein; GH3 domain containing. 9606.ENSP00000301691,SOST,213,Sclerostin; Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation. 9606.ENSP00000301712,UNKL,277,"Putative E3 ubiquitin-protein ligase UNKL; May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven." 9606.ENSP00000301727,E4F1,784,Transcription factor E4F1; May function as a transcriptional repressor. May also function as a ubiquitin ligase mediating ubiquitination of chromatin- associated TP53. Functions in cell survival and proliferation through control of the cell cycle. Functions in the p53 and pRB tumor suppressor pathways and regulates the cyclin CCNA2 transcription. 9606.ENSP00000301729,ECI1,302,"Enoyl-CoA delta isomerase 1, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species." 9606.ENSP00000301732,ABCA3,1704,"ATP-binding cassette sub-family A member 3; Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol; Belongs to the ABC transporter superfamily. ABCA family." 9606.ENSP00000301738,KCTD5,234,"BTB/POZ domain-containing protein KCTD5; Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex. Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4." 9606.ENSP00000301740,SRRM2,2752,Serine/arginine repetitive matrix protein 2; Required for pre-mRNA splicing as component of the spliceosome. Belongs to the CWC21 family. 9606.ENSP00000301744,ZNF597,424,Zinc finger protein 597; May be involved in transcriptional regulation. 9606.ENSP00000301761,SDHAF2,166,"Succinate dehydrogenase assembly factor 2, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer." 9606.ENSP00000301764,DDB1,1140,"DNA damage-binding protein 1; Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin- protein ligase complexes which mediate the ubiqu [...] " 9606.ENSP00000301765,VPS37C,355,"Vacuolar protein sorting-associated protein 37C; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation." 9606.ENSP00000301785,HNRNPUL2,747,Heterogeneous nuclear ribonucleoprotein U like 2. 9606.ENSP00000301788,POLR2G,172,"DNA-directed RNA polymerase II subunit RPB7; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB7 is part of a subcomplex with RPB4 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems [...] " 9606.ENSP00000301790,PLAAT5,279,"Phospholipase A and acyltransferase 5; Exhibits both phospholipase A1/2 and acyltransferase activities. Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids. Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylet [...] " 9606.ENSP00000301825,ENTPD3,529,Ectonucleoside triphosphate diphosphohydrolase 3; Has a threefold preference for the hydrolysis of ATP over ADP. 9606.ENSP00000301831,ULK4,1275,"Serine/threonine-protein kinase ULK4; May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility." 9606.ENSP00000301838,FADD,208,"FAS-associated death domain protein; Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling." 9606.ENSP00000301873,LTBP3,1303,"Latent-transforming growth factor beta-binding protein 3; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta." 9606.ENSP00000301887,BATF2,274,"Basic leucine zipper transcriptional factor ATF-like 2; AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes (By similarity). Selectively suppresses CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CCN1 [...] " 9606.ENSP00000301891,SLC22A11,550,"Solute carrier family 22 member 11; Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds." 9606.ENSP00000301896,MAJIN,216,Membrane anchored junction protein. 9606.ENSP00000301904,SCARA3,606,Scavenger receptor class A member 3; Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation. 9606.ENSP00000301908,PNOC,176,Prepronociceptin; [Nociceptin]: Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development. [Orphanin FQ2]: Has potent analgesic activity. Belongs to the opioid neuropeptide precursor family. 9606.ENSP00000301917,GPR25,361,Probable G-protein coupled receptor 25; Orphan receptor. 9606.ENSP00000301921,SOX7,388,"Transcription factor SOX-7; Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'-AACAAT-3'." 9606.ENSP00000301924,TRIM35,493,"Tripartite motif-containing protein 35; Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth. Involved in the cell death mechanism (By similarity)." 9606.ENSP00000301939,TMEM256,113,Transmembrane protein 256. 9606.ENSP00000301945,ANTXR1,564,"Anthrax toxin receptor 1; Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells." 9606.ENSP00000301956,ACSM1,577,"Acyl-coenzyme A synthetase ACSM1, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate. Also catalyzes the activation of lipoate to lipoyl-nucleoside monophosphate (By similarity). Activates lipoate with GTP at a 1000-fold higher rate than with ATP and activates both (R)- and (S)-lipoate to the respective lipoyl-GMP, with a preference for (R)-lipoate (By similarity)." 9606.ENSP00000301962,USP42,1316,Ubiquitin carboxyl-terminal hydrolase 42; Deubiquitinating enzyme which may play an important role during spermatogenesis. 9606.ENSP00000301972,MYRIP,859,"Rab effector MyRIP; Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity)." 9606.ENSP00000302037,MFF,342,Mitochondrial fission factor; Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles. 9606.ENSP00000302046,RNASE6,150,"Ribonuclease K6; Ribonuclease which shows a preference for the pyrimidines uridine and cytosine. Has potent antibacterial activity against a range of Gram-positive and Gram- negative bacteria, including P.aeruginosa, A.baumanii, M.luteus, S.aureus, E.faecalis, E.faecium, S.saprophyticus and E.coli. Causes loss of bacterial membrane integrity, and also promotes agglutination of Gram-negative bacteria. Probably contributes to urinary tract sterility. Bactericidal activity is independent of RNase activity." 9606.ENSP00000302051,ECEL1,775,Endothelin-converting enzyme-like 1; May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides. 9606.ENSP00000302079,C3AR1,482,"C3a anaphylatoxin chemotactic receptor; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000302100,LGALS4,323,Galectin-4; Galectin that binds lactose and a related range of sugars. May be involved in the assembly of adherens junctions. 9606.ENSP00000302105,CRYGA,174,Gamma-crystallin A; Crystallins are the dominant structural components of the vertebrate eye lens. 9606.ENSP00000302108,PANK1,598,Pantothenate kinase 1; Plays a role in the physiological regulation of the intracellular CoA concentration; Belongs to the type II pantothenate kinase family. 9606.ENSP00000302111,MGMT,238,Methylated-DNA--protein-cysteine methyltransferase; Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated; Belongs to the MGMT family. 9606.ENSP00000302114,PRELID1,219,"PRELI domain-containing protein 1, mitochondrial; Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4- induc [...] " 9606.ENSP00000302144,TMEM154,183,Transmembrane protein 154. 9606.ENSP00000302150,PRL,227,Prolactin; Prolactin acts primarily on the mammary gland by promoting lactation; Belongs to the somatotropin/prolactin family. 9606.ENSP00000302160,LSM3,102,"U6 snRNA-associated Sm-like protein LSm3; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA." 9606.ENSP00000302177,MBOAT2,520,"Lysophospholipid acyltransferase 2; Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2-diacyl-sn-glycero-3- phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling p [...] " 9606.ENSP00000302189,NHLH1,133,"Helix-loop-helix protein 1; May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system." 9606.ENSP00000302194,ATP6V1G2,118,V-type proton ATPase subunit G 2; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000302199,OR10V1,309,Olfactory receptor 10V1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000302216,ATOH1,354,"Protein atonal homolog 1; Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity)." 9606.ENSP00000302222,ZNF25,456,Zinc finger protein 25; May be involved in transcriptional regulation. 9606.ENSP00000302232,ALKBH3,286,"Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3; Dioxygenase that mediates demethylation of DNA and RNA containing 1-methyladenosine (m1A). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidative demethylation. Has a strong preference for single- stranded DNA. Able to process alkylated m3C within double-stranded regions via its interaction with ASCC3, which promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3. Also acts on RNA. Demethylates N(1)-methyladenosine (m1A) RNA, an epigenetic internal modification of [...] " 9606.ENSP00000302234,CCL11,97,"Eotaxin; In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3." 9606.ENSP00000302251,GBX2,348,Homeobox protein GBX-2; May act as a transcription factor for cell pluripotency and differentiation in the embryo. 9606.ENSP00000302260,VXN,207,Vexin; Required for neurogenesis in the neural plate and retina. Strongly cooperates with neural bHLH factors to promote neurogenesis. 9606.ENSP00000302274,C1QTNF4,329,"Complement C1q tumor necrosis factor-related protein 4; May be involved in the regulation of the inflammatory network. Its role as pro- or anti-inflammatory seems to be context dependent. Seems to have some role in regulating food intake and energy balance when administered in the brain. This effect is sustained over a two-day period, and it is accompanied by decreased expression of orexigenic neuropeptides in the hypothalamus 3 h post-injection (By similarity)." 9606.ENSP00000302276,HEXIM2,286,Protein HEXIM2; Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. 9606.ENSP00000302289,EMB,327,"Embigin; Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity)." 9606.ENSP00000302297,LGI3,548,Leucine-rich repeat LGI family member 3; May participate in the regulation of neuronal exocytosis. 9606.ENSP00000302319,PRY,147,"PTPN13-like protein, Y-linked; PTPN13 like Y-linked." 9606.ENSP00000302324,RNASE3,160,"Eosinophil cationic protein; Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content." 9606.ENSP00000302327,PYGO1,419,Pygopus homolog 1; Involved in signal transduction through the Wnt pathway. 9606.ENSP00000302393,LDHAL6B,381,Lactate dehydrogenase A like 6B. 9606.ENSP00000302413,TPST1,370,"Protein-tyrosine sulfotransferase 1; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family." 9606.ENSP00000302441,NANP,248,N-acylneuraminate-9-phosphatase; N-acetylneuraminic acid phosphatase. 9606.ENSP00000302455,ZNF17,664,Zinc finger protein 17; May be involved in transcriptional regulation. 9606.ENSP00000302456,KLF13,288,"Krueppel-like factor 13; Represses transcription by binding to the BTE site, a GC-rich DNA element, in competition with the activator SP1. It also represses transcription by interacting with the corepressor Sin3A and HDAC1. Activates RANTES expression in T-cells; Belongs to the Sp1 C2H2-type zinc-finger protein family." 9606.ENSP00000302476,HSPB2,182,Heat shock protein beta-2; May regulate the kinase DMPK. 9606.ENSP00000302478,POLR1D,133,"DNA-directed RNA polymerases I and III subunit RPAC2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively; Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family." 9606.ENSP00000302485,CSDC2,153,"Cold shock domain-containing protein C2; RNA-binding factor which binds specifically to the very 3'- UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal. Might play a central role in the negative regulation of histone variant synthesis in the developing brain (By similarity)." 9606.ENSP00000302486,MAP2K1,393,"Dual specificity mitogen-activated protein kinase kinase 1; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine resid [...] " 9606.ENSP00000302530,BUB1,1085,"Mitotic checkpoint serine/threonine-protein kinase BUB1; Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromat [...] " 9606.ENSP00000302537,MDM1,714,Nuclear protein MDM1; Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules. 9606.ENSP00000302543,CXXC5,322,"CXXC-type zinc finger protein 5; May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis. Transcription factor. Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen). May repress COX4I2 transactivation induced by CHCHD2 and [...] " 9606.ENSP00000302548,HOXD4,255,Homeobox protein Hox-D4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. Deformed subfamily. 9606.ENSP00000302552,GLOD5,160,Glyoxalase domain containing 5; Belongs to the glyoxalase I family. 9606.ENSP00000302562,HSPBAP1,488,HSPB1-associated protein 1; May play a role in cellular stress response. 9606.ENSP00000302569,CLEC7A,247,"C-type lectin domain family 7 member A; Lectin that functions as pattern receptor specific for beta- 1,3-linked and beta-1,6-linked glucans, such as cell wall constituents from pathogenic bacteria and fungi. Induces phosphorylation of SCIMP after binding beta-glucans (By similarity). Necessary for the TLR2- mediated inflammatory response and for TLR2-mediated activation of NF- kappa-B. Enhances cytokine production in macrophages and dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans conidia. Binds T-cells in a way that does [...] " 9606.ENSP00000302578,LRATD2,310,Protein LRATD2; LRAT domain containing 2; Belongs to the LRATD family. 9606.ENSP00000302579,SCEL,688,Sciellin; May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope. 9606.ENSP00000302586,KBTBD2,623,Kelch repeat and BTB domain containing 2. 9606.ENSP00000302599,FUT9,359,"4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9; Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl glucosamine (GlcNAc) of a distal lactosamine unit of a glycoprotein or a glycolipid-linked polylactosamine chains through an alpha-1,3 glycosidic linkage and participates in particular to the Lewis x (Lex)/CD15 epitope biosynthesis in neurons which allows cell differentiation, cell adhesion, and initiation of neurite outgrowth. Also fucosylates di-, tri- and tetraantennary N- glycans linked to glycoproteins and the inner lact [...] " 9606.ENSP00000302603,ZNF556,456,Zinc finger protein 556; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000302620,AGXT,392,Alanine--glyoxylate and serine--pyruvate aminotransferase. 9606.ENSP00000302621,LRG1,347,Leucine rich alpha-2-glycoprotein 1. 9606.ENSP00000302625,AXIN2,843,Axin-2; Inhibitor of the Wnt signaling pathway. Down-regulates beta- catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B. 9606.ENSP00000302629,CHSY3,882,"Chondroitin sulfate synthase 3; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1." 9606.ENSP00000302630,ONECUT1,465,Hepatocyte nuclear factor 6; Transcriptional activator. Binds the consensus sequence 5'- DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription; Belongs to the CUT homeobox family. 9606.ENSP00000302640,UBTF,764,Nucleolar transcription factor 1; Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element. 9606.ENSP00000302648,NRTN,197,Neurturin; Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells; Belongs to the TGF-beta family. GDNF subfamily. 9606.ENSP00000302657,ABHD15,468,Protein ABHD15; Abhydrolase domain containing 15. 9606.ENSP00000302676,GPR22,433,G-protein coupled receptor 22; Orphan G-protein coupled receptor. Seems to act through a G(i)/G(o) mediated pathway. May be involved in ciliogenesis (By similarity). 9606.ENSP00000302716,MUC17,4493,Mucin-17; Probably plays a role in maintaining homeostasis on mucosal surfaces. 9606.ENSP00000302719,KCNAB3,404,Voltage-gated potassium channel subunit beta-3; Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5. 9606.ENSP00000302724,INSL5,135,Insulin-like peptide INSL5 A chain; May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor; Belongs to the insulin family. 9606.ENSP00000302728,GUSB,651,Beta-glucuronidase; Plays an important role in the degradation of dermatan and keratan sulfates; Belongs to the glycosyl hydrolase 2 family. 9606.ENSP00000302756,FOXD4L1,408,Forkhead box D4 like 1. 9606.ENSP00000302768,PAIP1,479,Polyadenylate-binding protein-interacting protein 1; Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs. Its stimulatory activity on translation is mediated via its action on PABPC1. Competes with PAIP2 for binding to PABPC1. Its association with EIF4A and PABPC1 may potentiate contacts between mRNA termini. May also be involved in translationally coupled mRNA turnover. Implicated with other RNA- binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant o [...] 9606.ENSP00000302770,ZNF296,475,Zinc finger protein 296; May be a transcriptional corepressor with KLF4. 9606.ENSP00000302783,TRAPPC1,145,Trafficking protein particle complex subunit 1; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. BET5 subfamily. 9606.ENSP00000302790,XPO6,1125,Exportin-6; Mediates the nuclear export of actin and profilin-actin complexes in somatic cells. 9606.ENSP00000302801,TRMT61B,477,"tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial; Methyltransferase that catalyzes the formation of N(1)- methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC). Catalyzes the formation of 1-methyladenosine at position 947 of mitochondrial 16S ribosomal RNA and this modification is most likely important for mitoribosomal structure and function. In addition to tRNA N(1)-methyltransferase activity, also acts as a mRNA N(1)-methyltransferase by me [...] " 9606.ENSP00000302805,DDI1,396,"Protein DDI1 homolog 1; Probable aspartic protease (Probable). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI2, for cellular survival following replication stress. Together or redudantly with DDI2, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity." 9606.ENSP00000302811,MTNR1A,350,Melatonin receptor type 1A; High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000302814,OTP,325,Homeobox protein orthopedia; Probably involved in the differentiation of hypothalamic neuroendocrine cells. 9606.ENSP00000302830,MAEA,396,"E3 ubiquitin-protein transferase MAEA; Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. MAEA is required for normal cell proliferation. The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1. Plays a role in erythroblast enucleation during erythr [...] " 9606.ENSP00000302833,GIMAP1,306,GTPase IMAP family member 1; May regulate lymphocyte survival. Required for normal levels of mature T-lymphocytes and mature B-cells (By similarity). 9606.ENSP00000302843,DNAJC18,358,DnaJ heat shock protein family member C18. 9606.ENSP00000302846,PTGER4,488,"Prostaglandin E2 receptor EP4 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function." 9606.ENSP00000302851,SLC23A1,602,"Solute carrier family 23 member 1; Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate; Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily." 9606.ENSP00000302855,ZNF280A,542,Zinc finger protein 280A; May function as a transcription factor. 9606.ENSP00000302863,OR1L3,324,Olfactory receptor 1L3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000302867,OR7G3,312,Olfactory receptor 7G3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000302886,PA2G4,394,"Proliferation-associated protein 2G4; May play a role in a ERBB3-regulated signal transduction pathway. Seems be involved in growth regulation. Acts a corepressor of the androgen receptor (AR) and is regulated by the ERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcription of some E2F1- regulated promoters, probably by recruiting histone acetylase (HAT) activity. Binds RNA. Associates with 28S, 18S and 5.8S mature rRNAs, several rRNA precursors and probably U3 small nucleolar RNA. May be involved in regulation of intermediate and late steps of rRNA processing. May be involved [...] " 9606.ENSP00000302895,ARAP2,1704,"Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase- activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency (By similarity)." 9606.ENSP00000302898,AURKC,309,"Aurora kinase C; Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Plays also a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at 'Ser-10' and 'Ser-28'. AURKC phosphoryla [...] " 9606.ENSP00000302913,SH3D19,790,SH3 domain-containing protein 19; May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization. 9606.ENSP00000302924,IL17D,202,"Interleukin-17D; Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells." 9606.ENSP00000302935,IL16,1332,"Pro-interleukin-16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4. Isoform 3 is involved in cell cycle progression in T-cells. Appears to be involved in transcriptional regulation of SKP2 and is probably part of a transcriptional repression complex on the core promoter of the SKP2 gene. May act as a scaffold for GABPB1 (the DNA- binding subunit the GABP transcription factor complex) and HDAC3 thus maintai [...] " 9606.ENSP00000302938,WFDC13,93,WAP four-disulfide core domain protein 13; Putative acid-stable proteinase inhibitor. 9606.ENSP00000302961,HSPA4,840,Heat shock protein family A member 4; Belongs to the heat shock protein 70 family. 9606.ENSP00000302967,HDAC3,428,"Histone deacetylase 3; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys-27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activi [...] " 9606.ENSP00000302968,CDY1,554,"Testis-specific chromodomain protein Y 1; Has histone acetyltransferase activity, with a preference for histone H4." 9606.ENSP00000302978,SPRY3,288,Protein sprouty homolog 3; May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis; Belongs to the sprouty family. 9606.ENSP00000303015,ZRSR2,482,"U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2; Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing." 9606.ENSP00000303028,TM4SF20,229,"Transmembrane 4 L6 family member 20; Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis. In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1. Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called 'regulated alternative translocation' (RAT) and regulates the function of the transmembrane protein. Bel [...] " 9606.ENSP00000303042,AFAP1L2,818,Actin filament-associated protein 1-like 2; May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation. 9606.ENSP00000303057,PPIC,212,Peptidyl-prolyl cis-trans isomerase C; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding; Belongs to the cyclophilin-type PPIase family. 9606.ENSP00000303058,CEP120,986,Centrosomal protein of 120 kDa; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubu [...] 9606.ENSP00000303061,XAGE3,111,X antigen family member 3. 9606.ENSP00000303070,SCGB1D1,90,"Secretoglobin family 1D member 1; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones." 9606.ENSP00000303077,GOT1L1,421,"Putative aspartate aminotransferase, cytoplasmic 2; Glutamic-oxaloacetic transaminase 1 like 1." 9606.ENSP00000303108,VSTM2A,244,V-set and transmembrane domain-containing protein 2A; Plays a role in the regulation of the early stage of white and brown preadipocyte cell differentiation. Promotes adipogenic commitment of preadipocytes by increasing gene expression of the transcription factor PPARG in a BMP4-dependent signaling pathway. 9606.ENSP00000303129,VAT1L,419,Synaptic vesicle membrane protein VAT-1 homolog-like; Vesicle amine transport 1 like; Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. 9606.ENSP00000303145,TMED10,219,Transmembrane emp24 domain-containing protein 10; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft [...] 9606.ENSP00000303147,MAT2A,395,"S-adenosylmethionine synthase isoform type-2; Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate; Belongs to the AdoMet synthase family." 9606.ENSP00000303148,TMEM37,190,Voltage-dependent calcium channel gamma-like subunit; Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity). 9606.ENSP00000303149,GPR27,375,Probable G-protein coupled receptor 27; Orphan receptor. Possible candidate for amine-like G-protein coupled receptor. 9606.ENSP00000303153,COL22A1,1626,Collagen alpha-1(XXII) chain; Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. 9606.ENSP00000303158,CCDC8,538,"Coiled-coil domain-containing protein 8; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Required for localization of CUL7 to the centrosome." 9606.ENSP00000303174,UGT1A6,532,UDP-glucuronosyltransferase 1-6; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000303178,CDY1B,554,Chromodomain Y-linked 1B. 9606.ENSP00000303192,RGL1,803,Ral guanine nucleotide dissociation stimulator-like 1; Probable guanine nucleotide exchange factor. 9606.ENSP00000303206,REG1B,166,"Lithostathine-1-beta; Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration." 9606.ENSP00000303208,PCSK9,692,"Proprotein convertase subtilisin/kexin type 9; Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments. Acts via a non- proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes t [...] " 9606.ENSP00000303211,ACHE,617,Acetylcholinesterase; Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. Belongs to the type-B carboxylesterase/lipase family. 9606.ENSP00000303222,MTCH2,303,Mitochondrial carrier homolog 2; The substrate transported is not yet known. Induces mitochondrial depolarization; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000303231,IL12A,253,"Interleukin-12 subunit alpha; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC." 9606.ENSP00000303246,ACOT12,555,"Acetyl-coenzyme A thioesterase; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Acyl-coenzyme A thioesterase 12/ACOT12 preferentially hydrolyzes acetyl-CoA." 9606.ENSP00000303252,ZNF804A,1209,Zinc finger protein 804A. 9606.ENSP00000303276,RNASE2,161,Non-secretory ribonuclease; This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities; Belongs to the pancreatic ribonuclease family. 9606.ENSP00000303300,PRY2,147,PTPN13 like Y-linked 2. 9606.ENSP00000303315,JUNB,347,Transcription factor jun-B; Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[CG]TCA-3'; Belongs to the bZIP family. Jun subfamily. 9606.ENSP00000303325,TACR3,465,Neuromedin-K receptor; This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K > substance P. 9606.ENSP00000303356,DCXR,244,"L-xylulose reductase; Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules." 9606.ENSP00000303366,LMAN2,356,Vesicular integral-membrane protein VIP36; Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high- mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans (By similarity). 9606.ENSP00000303373,H2AC8,130,"Histone H2A type 1-B/E; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000303394,HSPB3,150,Heat shock protein beta-3; Inhibitor of actin polymerization. 9606.ENSP00000303398,MTBP,904,"Mdm2-binding protein; Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells (By similarity). May play a role in MDM2- dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation." 9606.ENSP00000303423,FNTA,379,Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha; Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic- aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation. 9606.ENSP00000303424,PTGDR,359,"Prostaglandin D2 receptor; Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate (By similarity)." 9606.ENSP00000303427,PDS5A,1337,Sister chromatid cohesion protein PDS5 homolog A; Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Belongs to the PDS5 family. 9606.ENSP00000303434,USP38,1042,Ubiquitin carboxyl-terminal hydrolase 38; Deubiquitinating enzyme exhibiting a preference towards 'Lys- 63'-linked ubiquitin chains; Belongs to the peptidase C19 family. 9606.ENSP00000303437,TSNARE1,514,t-SNARE domain containing 1. 9606.ENSP00000303452,TRH,242,"Pro-thyrotropin-releasing hormone; As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes." 9606.ENSP00000303468,ZCCHC4,513,rRNA N6-adenosine-methyltransferase ZCCHC4; rRNA N6-methyltransferase that specifically methylates the adenine in position 4220 of 28S rRNA. N6-methylation of adenine(4220) in 28S rRNA is required for translation ; Belongs to the ZCCHC4 family. 9606.ENSP00000303482,REEP4,257,Receptor expression-enhancing protein 4; Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes; Belongs to the DP1 family. 9606.ENSP00000303490,C5orf34,638,Uncharacterized protein C5orf34; Chromosome 5 open reading frame 34. 9606.ENSP00000303507,BCR,1271,"Breakpoint cluster region protein; Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form. The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound t [...] " 9606.ENSP00000303508,FRMD3,597,FERM domain-containing protein 3; Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer. 9606.ENSP00000303511,PEX6,980,"Peroxisome assembly factor 2; Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes." 9606.ENSP00000303515,DUS1L,473,"tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs; Belongs to the Dus family. Dus1 subfamily." 9606.ENSP00000303522,TACR1,407,Substance-P receptor; This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance P > substance K > neuromedin-K; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000303525,CBR4,237,"Carbonyl reductase family member 4; The heterotetramer with HSD17B8 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis. Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD. The homotetramer has NADPH-dependent quinone reductase activity. Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10- phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro)." 9606.ENSP00000303532,DEFB4A,64,Beta-defensin 4A; Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells. Belongs to the beta-defensin family. LAP/TAP subfamily. 9606.ENSP00000303533,ZNF138,319,Zinc finger protein 138. 9606.ENSP00000303540,SCN1A,2009,"Sodium channel protein type 1 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammatio [...] " 9606.ENSP00000303549,GPR82,336,Probable G-protein coupled receptor 82; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000303550,CYTL1,136,Cytokine-like protein 1; Cytokine like 1. 9606.ENSP00000303570,ANKMY2,441,Ankyrin repeat and MYND domain-containing protein 2; May be involved in the trafficking of signaling proteins to the cilia. 9606.ENSP00000303575,NUDT9,350,"ADP-ribose pyrophosphatase, mitochondrial; Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5'-phosphate." 9606.ENSP00000303580,NKIRAS2,191,"NF-kappa-B inhibitor-interacting Ras-like protein 2; Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB (By similarity); Belongs to the small GTPase superfamily. Ras family. KappaB-Ras subfamily." 9606.ENSP00000303584,N6AMT1,214,"Methyltransferase N6AMT1; Methyltransferase that can methylate both proteins and DNA, and to a lower extent, arsenic. Catalytic subunit of a heterodimer with TRMT112, which catalyzes N5-methylation of Glu residue of proteins with a Gly- Gln-Xaa-Xaa-Xaa-Arg motif (By similarity). Methylates ETF1 on 'Gln-185'; ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated. Also acts as a N(6)-adenine-specific DNA methyltransferase by mediating methylation of DNA on the 6th position of adenine (N(6)- methyladenosine). N(6)-methyladenosine (m6A) DNA is significantly [...] " 9606.ENSP00000303599,HSFY1,401,Heat shock transcription factor Y-linked 1; Belongs to the HSF family. 9606.ENSP00000303634,LRP8,963,"Low-density lipoprotein receptor-related protein 8; Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8 participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brai [...] " 9606.ENSP00000303686,NTSR2,410,Neurotensin receptor type 2; Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. 9606.ENSP00000303696,ZNF57,555,Zinc finger protein 57; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000303706,CDC25A,524,"M-phase inducer phosphatase 1; Tyrosine protein phosphatase which functions as a dosage- dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro." 9606.ENSP00000303709,UBE2E1,193,Ubiquitin-conjugating enzyme E2 E1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes the covalent attachment of ISG15 to other proteins. Mediates the selective degradation of short-lived and abnormal proteins. In vitro also catalyzes 'Lys-48'-linked polyubiquitination. Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000303754,PPID,370,Peptidyl-prolyl cis-trans isomerase D; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Proposed to act as a co- chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone- receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor [...] 9606.ENSP00000303758,LUZP1,1076,Leucine zipper protein 1. 9606.ENSP00000303766,HTRA3,453,"Serine protease HTRA3; Serine protease that cleaves beta-casein/CSN2 as well as several extracellular matrix (ECM) proteoglycans such as decorin/DCN, biglycan/BGN and fibronectin/FN1. Inhibits signaling mediated by TGF- beta family proteins possibly indirectly by degradation of these ECM proteoglycans (By similarity). May act as a tumor suppressor. Negatively regulates, in vitro, trophoblast invasion during placental development and may be involved in the development of the placenta in vivo. May also have a role in ovarian development, granulosa cell differentiation and luteinization. [...] " 9606.ENSP00000303769,AKNA,1439,"Microtubule organization protein AKNA; Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization (By similarity). Required for the delamination and retention of neural stem cells from the subventricular zone during neurogenesis (By similarity). Also regulates the epithelial-to-mesenchymal transition in other epithelial cells (By similarity). Acts by increasing centrosomal microtubule nucleation and recruiting nucleation factors and minus-end stabilizers, thereby destabilizing microtubules at the adherens junctions and mediating constriction o [...] " 9606.ENSP00000303775,PROKR1,393,"Prokineticin receptor 1; Receptor for prokineticin 1. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. May play a role during early pregnancy." 9606.ENSP00000303777,TEX13B,312,Testis-expressed protein 13B; Testis expressed 13B; Belongs to the TEX13 family. 9606.ENSP00000303822,OR7G2,345,Olfactory receptor 7G2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000303830,INSR,1382,"Insulin receptor subunit alpha; Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lea [...] " 9606.ENSP00000303864,OR8I2,310,Olfactory receptor 8I2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000303887,DCLK2,783,Serine/threonine-protein kinase DCLK2; Protein kinase with a significantly reduced C(a2+)/CAM affinity and dependence compared to other members of the CaMK family. May play a role in the down-regulation of CRE-dependent gene activation probably by phosphorylation of the CREB coactivator CRTC2/TORC2 and the resulting retention of TORC2 in the cytoplasm (By similarity). 9606.ENSP00000303908,TWF2,349,"Twinfilin-2; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G- actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity); Belongs to the actin-binding proteins ADF family. Twinfilin subfamily." 9606.ENSP00000303909,ABR,859,"Active breakpoint cluster region-related protein; Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form. The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GD [...] " 9606.ENSP00000303915,ZNF561,486,Zinc finger protein 561; May be involved in transcriptional regulation. 9606.ENSP00000303920,MZB1,189,"Marginal zone B- and B1-cell-specific protein; Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B- cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation; Belongs to the MZB1 family." 9606.ENSP00000303928,KIAA0232,1395,Uncharacterized protein KIAA0232; KIAA0232. 9606.ENSP00000303942,GP9,177,Platelet glycoprotein IX; The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib. 9606.ENSP00000303963,CTRB2,263,Chymotrypsinogen B2; Belongs to the peptidase S1 family. 9606.ENSP00000303978,SYCE1,318,"Synaptonemal complex central element protein 1; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination." 9606.ENSP00000303987,TMEM223,202,Transmembrane protein 223. 9606.ENSP00000303992,TMEM43,400,Transmembrane protein 43; May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). 9606.ENSP00000303997,GTPBP2,602,GTP binding protein 2. 9606.ENSP00000304004,FOXA3,350,"Hepatocyte nuclear factor 3-gamma; Transcription factor that is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC prom [...] " 9606.ENSP00000304032,STARD5,213,StAR-related lipid transfer protein 5; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity). 9606.ENSP00000304051,RNF139,664,"E3 ubiquitin-protein ligase RNF139; E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor." 9606.ENSP00000304071,C7orf33,177,Uncharacterized protein C7orf33; Chromosome 7 open reading frame 33. 9606.ENSP00000304077,OR4K15,348,Olfactory receptor 4K15; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000304078,FAM83B,1011,Protein FAM83B; Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades. 9606.ENSP00000304102,COPS6,327,"COP9 signalosome complex subunit 6; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-depend [...] " 9606.ENSP00000304108,FAM171B,826,Protein FAM171B; Family with sequence similarity 171 member B; Belongs to the FAM171 family. 9606.ENSP00000304127,KCNG3,436,Potassium voltage-gated channel subfamily G member 3; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; this promotes a reduction in the rate of activation and inactivation of the delayed rectifier voltage- gated potassium channel KCNB1. Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.3/KCNG3 sub-subfamily. 9606.ENSP00000304133,SCG2,617,Secretogranin-2; Neuroendocrine protein of the granin family that regulates the biogenesis of secretory granules. 9606.ENSP00000304139,RBMXL2,392,"RNA-binding motif protein, X-linked-like-2; RBMX like 2." 9606.ENSP00000304147,COPS9,252,"COP9 signalosome complex subunit 9; [Isoform 1]: Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD k [...] " 9606.ENSP00000304188,OR8U1,309,Olfactory receptor 8U1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000304192,PCNX1,2341,Pecanex-like protein 1; Pecanex 1; Belongs to the pecanex family. 9606.ENSP00000304226,HIPK3,1215,"Homeodomain-interacting protein kinase 3; Serine/threonine-protein kinase involved in transcription regulation, apoptosis and steroidogenic gene expression. Phosphorylates JUN and RUNX2. Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors. The phosphorylation of NR5A1 activates SF1 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. In osteoblasts, supports transcription activation: phosphoryla [...] " 9606.ENSP00000304229,HINT1,126,"Histidine triad nucleotide-binding protein 1; Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5'-O-phosphorothioate and guano [...] " 9606.ENSP00000304234,PCDHA10,948,Protocadherin alpha-10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000304235,OR1L6,311,Olfactory receptor 1L6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000304250,CDK5R2,367,Cyclin-dependent kinase 5 activator 2; Activator of CDK5/TPKII. 9606.ENSP00000304268,ZNF33A,829,Zinc finger protein 33A; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000304277,TM4SF1,202,Transmembrane 4 L six family member 1; Belongs to the L6 tetraspanin family. 9606.ENSP00000304283,RAC3,192,"Ras-related C3 botulinum toxin substrate 3; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as cell spreading and the formation of actin-based protusions including lamellipodia and membrane ruffles. Promotes cell adhesion and spreading on fibrinogen in a CIB1 and alpha-IIb/beta3 integrin-mediated manner." 9606.ENSP00000304286,FOXI1,378,"Forkhead box protein I1; Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity)." 9606.ENSP00000304290,CHRNB1,501,"Acetylcholine receptor subunit beta; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub- subfamily." 9606.ENSP00000304292,ANKRD27,1050,"Ankyrin repeat domain-containing protein 27; May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics. May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the fun [...] " 9606.ENSP00000304327,COPRS,184,"Coordinator of PRMT5 and differentiation stimulator; Histone-binding protein required for histone H4 methyltransferase activity of PRMT5. Specifically required for histone H4 'Arg-3' methylation mediated by PRMT5, but not histone H3 'Arg-8' methylation, suggesting that it modulates the substrate specificity of PRMT5. Specifically interacts with the N-terminus of histone H4 but not with histone H3, suggesting that it acts by promoting the association between histone H4 and PRMT5. Involved in CCNE1 promoter repression. Plays a role in muscle cell differentiation by modulating the recruit [...] " 9606.ENSP00000304331,GSX1,264,GS homeobox 1; Probable transcription factor that binds to the DNA sequence 5'-GC[TA][AC]ATTA[GA]-3'. Activates the transcription of the GHRH gene. Plays an important role in pituitary development; Belongs to the Antp homeobox family. 9606.ENSP00000304336,PYDC1,89,"Pyrin domain-containing protein 1; Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro- caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS." 9606.ENSP00000304353,POP7,140,"Ribonuclease P protein subunit p20; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences." 9606.ENSP00000304355,CCDC126,140,Coiled-coil domain containing 126. 9606.ENSP00000304360,SMYD4,804,SET and MYND domain containing 4; Belongs to the class V-like SAM-binding methyltransferase superfamily. 9606.ENSP00000304364,C1GALT1C1,318,"C1GALT1-specific chaperone 1; Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3- galactosyltransferase (C1GALT1)." 9606.ENSP00000304376,RAB24,203,Ras-related protein Rab-24; May be involved in autophagy-related processes. Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000304408,COL3A1,1466,Collagen alpha-1(III) chain; Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12. 9606.ENSP00000304410,C2orf68,166,UPF0561 protein C2orf68; Chromosome 2 open reading frame 68. 9606.ENSP00000304419,OR2B2,357,Olfactory receptor 2B2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000304422,KREMEN2,462,Kremen protein 2; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. 9606.ENSP00000304429,SNX7,451,Sorting nexin-7; May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family. 9606.ENSP00000304435,FAM189A2,603,Protein FAM189A2; Family with sequence similarity 189 member A2. 9606.ENSP00000304437,KNDC1,1749,Kinase non-catalytic C-lobe domain-containing protein 1; RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2 (By similarity). May be involved in cellular senescence. 9606.ENSP00000304440,HAS3,553,"Hyaluronan synthase 3; Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction (By similarity); Belongs to the NodC/HAS family." 9606.ENSP00000304467,THOP1,689,Thimet oligopeptidase; Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments. 9606.ENSP00000304501,ADORA2B,332,Adenosine receptor A2b; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. 9606.ENSP00000304502,SIX2,291,"Homeobox protein SIX2; Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Al [...] " 9606.ENSP00000304553,MPLKIP,179,M-phase-specific PLK1-interacting protein; May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis. 9606.ENSP00000304586,ANKS3,656,Ankyrin repeat and SAM domain-containing protein 3; May be involved in vasopressin signaling in the kidney. 9606.ENSP00000304592,FASN,2511,"3-hydroxyacyl-[acyl-carrier-protein] dehydratase; Fatty acid synthetase catalyzes the formation of long-chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities as an acyl carrier protein." 9606.ENSP00000304593,ZNHIT1,154,Zinc finger HIT domain-containing protein 1; Seems to play a role in p53-mediated apoptosis induction. Binds to NR1D2 and relieves it of its inhibitory effect on the transcription of APOC3 without affecting its DNA-binding activity ; Belongs to the ZNHIT1 family. 9606.ENSP00000304604,MAGI3,1481,"Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3; Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes. Cooperates with PTEN to modulate the kinase activity of AKT1. Its interaction with PTPRB and tyrosine phosphorylated proteins suggests that it may link receptor tyrosine phosphatase with its substrates at the plasma membrane. In polarized epithelial cells, involved in efficient trafficking of TGFA to the cell surface. Regulates the ability of LPAR2 to activate ERK and RhoA pathways. Regulates the [...] " 9606.ENSP00000304642,RETREG1,497,Reticulophagy regulator 1; Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes. Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins. Required for long-term survival of nociceptive and autonomic ganglion neurons. 9606.ENSP00000304643,CALML6,181,Calmodulin-like protein 6; Calmodulin like 6; Belongs to the calmodulin family. Calglandulin subfamily. 9606.ENSP00000304669,CTNNA1,906,"Catenin alpha-1; Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and [...] " 9606.ENSP00000304670,RNFT1,435,"E3 ubiquitin-protein ligase RNFT1; E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis." 9606.ENSP00000304676,ATOH8,321,"Protein atonal homolog 8; Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins. Regulates endothelial cell proliferation, migration and tube-like structures formation. Modulates endothelial cell differentiation through NOS3. May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic devel [...] " 9606.ENSP00000304689,THAP11,314,THAP domain-containing protein 11; Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity). 9606.ENSP00000304713,MSANTD4,345,Myb/SANT-like DNA-binding domain-containing protein 4; Myb/SANT DNA binding domain containing 4 with coiled-coils. 9606.ENSP00000304762,SPACA5B,159,Sperm acrosome associated 5B; Belongs to the glycosyl hydrolase 22 family. 9606.ENSP00000304767,P2RY1,373,"P2Y purinoceptor 1; Receptor for extracellular adenine nucleotides such as ADP. In platelets, binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and ultimately platelet aggregation. Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000304769,ZNF467,595,"Zinc finger protein 467; Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5'-CTTCTGGGAAGA-3' of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity)." 9606.ENSP00000304782,CES3,571,"Carboxylesterase 3; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)-1-piperidino]- carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics." 9606.ENSP00000304783,SLC26A5,744,"Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasm [...] " 9606.ENSP00000304802,DTYMK,212,Thymidylate kinase; Catalyzes the conversion of dTMP to dTDP; Belongs to the thymidylate kinase family. 9606.ENSP00000304811,UGT2B7,529,UDP-glucuronosyltransferase 2B7; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. 9606.ENSP00000304822,CSN3,182,"Kappa-casein; Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk; Belongs to the kappa-casein family." 9606.ENSP00000304845,UGT1A1,533,"UDP-glucuronosyltransferase 1-1; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha- ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. Belongs to the UDP-glyc [...] " 9606.ENSP00000304854,NUDCD2,157,NudC domain-containing protein 2; May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone. 9606.ENSP00000304891,ATP6V1E2,226,V-type proton ATPase subunit E 2; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity). 9606.ENSP00000304895,IRS1,1242,Insulin receptor substrate 1; May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity). 9606.ENSP00000304903,CD2BP2,341,CD2 antigen cytoplasmic tail-binding protein 2; Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly. 9606.ENSP00000304908,TXNDC2,553,Thioredoxin domain-containing protein 2; Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase. 9606.ENSP00000304915,IL13,146,Interleukin-13; Cytokine. Inhibits inflammatory cytokine production. Synergizes with IL2 in regulating interferon-gamma synthesis. May be critical in regulating inflammatory and immune responses. Positively regulates IL31RA expression in macrophages (By similarity). 9606.ENSP00000304923,LRRC28,367,Leucine-rich repeat-containing protein 28; Leucine rich repeat containing 28. 9606.ENSP00000304926,PPDPFL,84,Pancreatic progenitor cell differentiation and proliferation factor like. 9606.ENSP00000304930,SOSTDC1,206,"Sclerostin domain-containing protein 1; May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling (By similarity). Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner." 9606.ENSP00000304941,TCTN2,697,"Tectonic-2; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity)." 9606.ENSP00000304945,ROBO4,1007,"Roundabout homolog 4; Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of endothelial barrier organization and function." 9606.ENSP00000304956,MN1,1320,"Transcriptional activator MN1; Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable)." 9606.ENSP00000304987,BFSP2,415,"Phakinin; Required for the correct formation and organization of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA." 9606.ENSP00000305005,PSG8,426,Pregnancy specific beta-1-glycoprotein 8. 9606.ENSP00000305055,OR2K2,316,Olfactory receptor 2K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000305069,TMEM192,271,Transmembrane protein 192. 9606.ENSP00000305071,RFXANK,260,DNA-binding protein RFXANK; Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. May also potentiate the activation of RAF1 (By similarity). 9606.ENSP00000305077,ZNF439,499,Zinc finger protein 439; May be involved in transcriptional regulation. 9606.ENSP00000305096,C22orf15,157,Uncharacterized protein C22orf15; Chromosome 22 open reading frame 15. 9606.ENSP00000305107,GIMAP8,665,GTPase IMAP family member 8; Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections. 9606.ENSP00000305133,SOCS5,536,Suppressor of cytokine signaling 5; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5- SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits for instance EGF signaling by mediating the degradation of the EGF receptor/EGFR. Involved in the regulation of T- helper cell differentiation by inhibiting of the IL4 signaling pathway which promotes diff [...] 9606.ENSP00000305138,MCRIP2,160,MAPK regulated corepressor interacting protein 2; Belongs to the MCRIP family. 9606.ENSP00000305151,PWWP2A,755,PWWP domain-containing protein 2A; H2A.Z-specific chromatin binding protein which may play an important role in the neural crest stem cell migration and differentiation during early development. Also required for proper mitosis progression. 9606.ENSP00000305161,TRIM56,755,"E3 ubiquitin-protein ligase TRIM56; E3 ubiquitin-protein ligase that plays a key role in innate antiviral immunity. In response to pathogen- and host-derived double-stranded DNA (dsDNA), targets STING1 to 'Lys-63'- linked ubiquitination, thereby promoting its homodimerization, a step required for the production of type I interferon IFN-beta (By similarity). Independently of its E3 ubiquitin ligase activity, positive regulator of TLR3 signaling. Potentiates extracellular double stranded RNA (dsRNA)-induced expression of IFNB1 and interferon- stimulated genes ISG15, IFIT1/ISG56, CXCL10, [...] " 9606.ENSP00000305193,HS1BP3,392,HCLS1-binding protein 3; May be a modulator of IL-2 signaling. 9606.ENSP00000305204,CKAP2L,745,Cytoskeleton-associated protein 2-like; Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells. 9606.ENSP00000305221,UGT2B4,528,"UDP-glucuronosyltransferase 2B4; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme is active on polyhydroxylated estrogens (such as estriol, 4-hydroxyestrone and 2-hydroxyestriol) and xenobiotics (such as 4-methylumbelliferone, 1-naphthol, 4-nitrophenol, 2- aminophenol, 4-hydroxybiphenyl and menthol). It is capable of 6 alpha- hydroxyglucuronidation of hyodeoxycholic acid; Belongs to the UDP-glycosyltransferase family." 9606.ENSP00000305230,SRP9,86,"Signal recognition particle 9 kDa protein; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding." 9606.ENSP00000305244,IRX1,480,Iroquois-class homeodomain protein IRX-1; Iroquois homeobox 1. 9606.ENSP00000305255,STX8,236,"Syntaxin-8; Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis- Golgi membranes to the ER; Belongs to the syntaxin family." 9606.ENSP00000305260,GNB2,340,"Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000305263,KRT28,464,"Keratin, type I cytoskeletal 28; Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs)." 9606.ENSP00000305288,NLGN2,835,"Neuroligin-2; Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Promotes clustering of postsynaptic LHFPL4 (By similarity). Modulates signaling by inhibitory synapses [...] " 9606.ENSP00000305302,SLC6A19,634,Sodium-dependent neutral amino acid transporter B(0)AT1; Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent. Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity. 9606.ENSP00000305334,FSTL5,847,Follistatin-related protein 5; Follistatin like 5. 9606.ENSP00000305343,SOX14,240,Transcription factor SOX-14; Acts as a negative regulator of transcription. 9606.ENSP00000305372,ADRB2,413,Beta-2 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30- fold greater affinity than it does norepinephrine. Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB2 sub-subfamily. 9606.ENSP00000305373,ZNF440,595,Zinc finger protein 440; May be involved in transcriptional regulation. 9606.ENSP00000305403,OR5T3,340,Olfactory receptor 5T3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000305416,S1PR1,382,"Sphingosine 1-phosphate receptor 1; G-protein coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signaling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganization of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal emb [...] " 9606.ENSP00000305422,CEBPB,345,"CCAAT/enhancer-binding protein beta; Important transcription factor regulating the expression of genes involved in immune and inflammatory responses. Plays also a significant role in adipogenesis, as well as in the gluconeogenic pathway, liver regeneration, and hematopoiesis. The consensus recognition site is 5'-T[TG]NNGNAA[TG]-3'. Its functional capacity is governed by protein interactions and post-translational protein modifications. During early embryogenesis, plays essential and redundant functions with CEBPA. Has a promitotic effect on many cell types such as hepatocytes and adipo [...] " 9606.ENSP00000305424,OR1F1,312,Olfactory receptor 1F1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000305426,TUB,561,"Tubby protein homolog; Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages." 9606.ENSP00000305442,COG7,770,Conserved oligomeric Golgi complex subunit 7; Required for normal Golgi function. 9606.ENSP00000305449,CNNM3,707,Metal transporter CNNM3; Probable metal transporter; Belongs to the ACDP family. 9606.ENSP00000305465,PDILT,584,Protein disulfide-isomerase-like protein of the testis; Probable redox-inactive chaperone involved in spermatogenesis; Belongs to the protein disulfide isomerase family. 9606.ENSP00000305469,OR1S2,325,Olfactory receptor 1S2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000305480,FEN1,380,"Flap endonuclease 1; Structure-specific nuclease with 5'-flap endonuclease and 5'- 3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site- terminated flap. Acts as [...] " 9606.ENSP00000305494,SPATA5L1,753,Spermatogenesis-associated protein 5-like protein 1; Spermatogenesis associated 5 like 1; Belongs to the AAA ATPase family. AFG2 subfamily. 9606.ENSP00000305529,SIRPG,387,"Signal-regulatory protein gamma; Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T-cells by CD47 on antigen-presenting cells results in enhanced antigen- specific T-cell proliferation and costimulates T-cell activation." 9606.ENSP00000305533,THAP9,903,DNA transposase THAP9; Active transposase that specifically recognizes the bipartite 5'-TXXGGGX(A/T)-3' consensus motif and mediates transposition. 9606.ENSP00000305556,PCBP1,356,"Poly(rC)-binding protein 1; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. In case of infection by poliovirus, plays a role in initiation of viral RNA replication in concert with the viral protein 3CD." 9606.ENSP00000305595,B3GNT2,397,"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors. Probably constitutes the main polylactosamine synthase. Belongs to the glycosyltransferase 31 family." 9606.ENSP00000305596,FAM71B,605,Protein FAM71B; May be involved in RNA biogenesis. 9606.ENSP00000305603,FUT3,361,"Galactoside 3(4)-L-fucosyltransferase; May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L- fucosyl links." 9606.ENSP00000305613,CPLX1,134,"Complexin-1; Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse. Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior. Belongs to the complexin/synaphin family." 9606.ENSP00000305631,NXNL1,212,"Nucleoredoxin-like protein 1; May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods. Belongs to the nucleoredoxin family." 9606.ENSP00000305632,HOMER2,354,"Homer protein homolog 2; Postsynaptic density scaffolding protein. Binds and cross- links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER- associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Required for normal hearing. Negatively regulates T cell activation by inhibi [...] " 9606.ENSP00000305647,VAMP5,116,"Vesicle-associated membrane protein 5; May participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or GLUT4 trafficking." 9606.ENSP00000305651,CXCL10,98,"C-X-C motif chemokine 10; Pro-inflammatory cytokine that is involved in a wide variety of processes such as chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects. Plays thereby an important role during viral infections by stimulating the activation and migration of immune cells to the infected sites (By similarity). Mechanistically, binding of CXCL10 to the CXCR3 receptor activates G protein-mediated signaling and results in downstream activation of phospholipase C-dependent pathway, an increas [...] " 9606.ENSP00000305653,LETM1,739,"Mitochondrial proton/calcium exchanger protein; Mitochondrial proton/calcium antiporter that mediates proton- dependent calcium efflux from mitochondrion. Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain. Required for the maintenance of the tubular shape and cristae organization. In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion ; Belongs to the LETM1 family." 9606.ENSP00000305654,TVP23B,205,Trans-golgi network vesicle protein 23 homolog B; Belongs to the TVP23 family. 9606.ENSP00000305675,CAVIN2,425,Caveolae-associated protein 2; Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae. Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in the lung and fat endothelia but not in the heart endothelia. Negatively regulates the size or stability of CAVIN complexes in the lung endothelial cells. May play a role in targeting PRKCA to caveolae (By similarity). 9606.ENSP00000305682,MRPL39,353,Mitochondrial ribosomal protein L39; Belongs to the mitochondrion-specific ribosomal protein mL39 family. 9606.ENSP00000305687,DERPC,524,"Decreased expression in renal and prostate cancer protein; Potential tumor suppressor. Inhibits prostate tumor cell growth, when overexpressed; Belongs to the DERPC family." 9606.ENSP00000305692,GAA,952,"70 kDa lysosomal alpha-glucosidase; Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans." 9606.ENSP00000305696,RBFA,343,"Putative ribosome-binding factor A, mitochondrial; Ribosome binding factor A." 9606.ENSP00000305699,HOOK3,718,"Protein Hook homolog 3; Probably serves as a target for the spiC protein from Salmonella typhimurium, which inactivates it, leading to a strong alteration in cellular trafficking (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Participates in defining the architecture and localization of the Golgi complex. Acts as an adapter protein linking the dynein motor c [...] " 9606.ENSP00000305702,KCTD19,926,BTB/POZ domain-containing protein KCTD19; Potassium channel tetramerization domain containing 19. 9606.ENSP00000305714,BMP1,986,"Bone morphogenetic protein 1; Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX." 9606.ENSP00000305721,IBTK,1353,"Inhibitor of Bruton tyrosine kinase; Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription." 9606.ENSP00000305725,CHST11,352,"Carbohydrate sulfotransferase 11; Catalyzes the transfer of sulfate to position 4 of the N- acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor." 9606.ENSP00000305731,CST1,141,"Cystatin-SN; Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well." 9606.ENSP00000305742,LRTOMT,291,"Transmembrane O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity). Belongs to the class I-like SAM-binding methyltransferase [...] " 9606.ENSP00000305766,MRGPRX1,322,"Mas-related G-protein coupled receptor member X1; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chlo [...] " 9606.ENSP00000305769,SMAD1,465,Mothers against decapentaplegic homolog 1; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor- regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)- mediated cardiac-specific gene expression. Belongs to the dwarfin/SMAD family. 9606.ENSP00000305790,SF3B3,1217,"Splicing factor 3B subunit 3; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRN [...] " 9606.ENSP00000305810,STX18,335,Syntaxin-18; Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER. 9606.ENSP00000305839,GPRIN1,1008,G protein-regulated inducer of neurite outgrowth 1; May be involved in neurite outgrowth. 9606.ENSP00000305847,SPACA5,159,Sperm acrosome associated 5. 9606.ENSP00000305852,TM4SF4,202,Transmembrane 4 L6 family member 4; Regulates the adhesive and proliferative status of intestinal epithelial cells. Can mediate density-dependent cell proliferation. 9606.ENSP00000305875,SHLD1,205,"Shieldin complex subunit 1; Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres." 9606.ENSP00000305877,NMUR1,426,Neuromedin-U receptor 1; Receptor for the neuromedin-U and neuromedin-S neuropeptides. 9606.ENSP00000305892,TMEM208,173,Transmembrane protein 208; May function as a negative regulator of endoplasmic reticulum-stress induced autophagy. 9606.ENSP00000305899,KMT5B,885,"Histone-lysine N-methyltransferase KMT5B; Histone methyltransferase that specifically methylates monomethylated 'Lys-20' (H4K20me1) and dimethylated 'Lys-20' (H4K20me2) of histone H4 to produce respectively dimethylated 'Lys-20' (H4K20me2) and trimethylated 'Lys-20' (H4K20me3) and thus regulates transcription and maintenance of genome integrity. In vitro also methylates unmodified 'Lys-20' (H4K20me0) of histone H4 and nucleosomes. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, ther [...] " 9606.ENSP00000305906,UTF1,341,Undifferentiated embryonic cell transcription factor 1; Acts as a transcriptional coactivator of ATF2. 9606.ENSP00000305918,BRD3,726,"Bromodomain-containing protein 3; Chromatin reader that recognizes and binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling and interaction with transcription factors. Regulates transcription by promoting the binding of the transcription factor GATA1 to its targets (By similarity)." 9606.ENSP00000305919,HTRA4,476,Serine protease HTRA4; Serine protease; Belongs to the peptidase S1C family. 9606.ENSP00000305924,PPP4R4,873,Serine/threonine-protein phosphatase 4 regulatory subunit 4; Putative regulatory subunit of serine/threonine-protein phosphatase 4. 9606.ENSP00000305926,OTUD7A,926,OTU domain-containing protein 7A; Has deubiquitinating activity towards 'Lys-11'-linked polyubiquitin chains; Belongs to the peptidase C64 family. 9606.ENSP00000305941,USH2A,5202,"Usherin; Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport." 9606.ENSP00000305970,OR4D5,318,Olfactory receptor 4D5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000305974,SLCO1A2,670,Solute carrier organic anion transporter family member 1A2; Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin. 9606.ENSP00000305975,KRTAP1-1,177,"Keratin-associated protein 1-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000305976,SIK2,926,"Serine/threonine-protein kinase SIK2; Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily." 9606.ENSP00000305988,ALCAM,583,"CD166 antigen; Cell adhesion molecule that mediates both heterotypic cell- cell contacts via its interaction with CD6, as well as homotypic cell- cell contacts. Promotes T-cell activation and proliferation via its interactions with CD6. Contributes to the formation and maturation of the immunological synapse via its interactions with CD6. Mediates homotypic interactions with cells that express ALCAM. Required for normal hematopoietic stem cell engraftment in the bone marrow. Mediates attachment of dendritic cells onto endothelial cells via homotypic interaction. Inhibits endothelial ce [...] " 9606.ENSP00000305995,PGK2,417,Phosphoglycerate kinase 2; Essential for sperm motility and male fertility. Not required for the completion of spermatogenesis (By similarity); Belongs to the phosphoglycerate kinase family. 9606.ENSP00000306003,ATP5ME,69,"ATP synthase subunit e, mitochondrial, N-terminally processed; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rota [...] " 9606.ENSP00000306010,ARF4,180,"ADP-ribosylation factor 4; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus." 9606.ENSP00000306015,SYNPO2,1261,Synaptopodin-2; Has an actin-binding and actin-bundling activity. Can induce the formation of F-actin networks in an isoform-specific manner. At the sarcomeric Z lines is proposed to act as adapter protein that links nascent myofibers to the sarcolemma via ZYX and may play a role in early assembly and stabilization of the Z lines. Involved in autophagosome formation. May play a role in chaperone-assisted selective autophagy (CASA) involved in Z lines maintenance in striated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane- tethering [...] 9606.ENSP00000306070,NUDT6,316,Nucleoside diphosphate-linked moiety X motif 6; May contribute to the regulation of cell proliferation. Belongs to the Nudix hydrolase family. 9606.ENSP00000306080,MRM3,420,"rRNA methyltransferase 3, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA." 9606.ENSP00000306095,OR10H2,315,Olfactory receptor 10H2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000306099,FGB,491,"Fibrinogen beta chain; Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re- epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it i [...] " 9606.ENSP00000306100,PAM,974,"Peptidyl-alpha-hydroxyglycine alpha-amidating lyase; Bifunctional enzyme that catalyzes the post-translational modification of inactive peptidylglycine precursors to the corresponding bioactive alpha-amidated peptides, a terminal modification in biosynthesis of many neural and endocrine peptides. Alpha-amidation involves two sequential reactions, both of which are catalyzed by separate catalytic domains of the enzyme. The first step, catalyzed by peptidyl alpha-hydroxylating monoxygenase (PHM) domain, is the copper-, ascorbate-, and O2- dependent stereospecific hydroxylation (with S st [...] " 9606.ENSP00000306105,CEP89,783,Centrosomal protein of 89 kDa; Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. 9606.ENSP00000306117,DDX19A,478,"ATP-dependent RNA helicase DDX19A; ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19 functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (By similarity); Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily." 9606.ENSP00000306123,RPAP1,1393,"RNA polymerase II-associated protein 1; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Required for interaction of the RNA polymerase II complex with acetylated histone H3; Belongs to the RPAP1 family." 9606.ENSP00000306124,PRKCE,737,"Protein kinase C epsilon type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin- dependent signaling, by mediating angiotensin-2-induced activation of integrin beta- [...] " 9606.ENSP00000306129,DRD5,477,D(1B) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000306138,GRM5,1212,Metabotropic glutamate receptor 5; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol- calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity. 9606.ENSP00000306157,IL7R,459,Interleukin-7 receptor subunit alpha; Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP); Belongs to the type I cytokine receptor family. Type 4 subfamily. 9606.ENSP00000306163,ANKRD2,360,Ankyrin repeat domain-containing protein 2; Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress. 9606.ENSP00000306185,ANTXR2,489,Anthrax toxin receptor 2; Necessary for cellular interactions with laminin and the extracellular matrix; Belongs to the ATR family. 9606.ENSP00000306220,MMGT1,131,Membrane magnesium transporter 1; Mediates Mg(2+) transport; Belongs to the membrane magnesium transporter (TC 1.A.67) family. 9606.ENSP00000306245,FOS,380,"Proto-oncogene c-Fos; Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentia [...] " 9606.ENSP00000306253,ITPR1,2743,"Inositol 1,4,5-trisphosphate receptor type 1; Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity)." 9606.ENSP00000306261,KRT78,520,"Keratin, type II cytoskeletal 78; Keratin 78; Belongs to the intermediate filament family." 9606.ENSP00000306275,KCNK3,394,"Potassium channel subfamily K member 3; pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward. Belongs to the two pore domain potassium channel (TC 1.A.1.8) family." 9606.ENSP00000306285,TPD52L1,209,Tumor protein D53; TPD52 like 1. 9606.ENSP00000306320,GON7,100,EKC/KEOPS complex subunit GON7; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex. 9606.ENSP00000306324,PWWP2B,590,PWWP domain containing 2B. 9606.ENSP00000306328,SLC25A33,321,"Solute carrier family 25 member 33; Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and m [...] " 9606.ENSP00000306330,YWHAG,247,"14-3-3 protein gamma, N-terminally processed; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner." 9606.ENSP00000306335,RFX2,723,"DNA-binding protein RFX2; Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters. Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity)." 9606.ENSP00000306340,CDKL2,570,Cyclin-dependent kinase-like 2; Cyclin dependent kinase like 2. 9606.ENSP00000306344,TMEM135,458,Transmembrane protein 135; Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization; Belongs to the TMEM135 family. 9606.ENSP00000306362,TBCA,129,Tubulin-specific chaperone A; Tubulin-folding protein; involved in the early step of the tubulin folding pathway. 9606.ENSP00000306372,ZNF3,446,Zinc finger protein 3; Involved in cell differentiation and/or proliferation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000306390,PRSS27,290,Serine protease 27. 9606.ENSP00000306396,RNF187,235,"E3 ubiquitin-protein ligase RNF187; E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8." 9606.ENSP00000306397,UQCRFS1,274,"Cytochrome b-c1 complex subunit Rieske, mitochondrial; [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b- c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and su [...] " 9606.ENSP00000306410,ARMC4,1044,Armadillo repeat-containing protein 4; Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly. 9606.ENSP00000306425,CHCHD7,110,Coiled-coil-helix-coiled-coil-helix domain containing 7; Belongs to the CHCHD7 family. 9606.ENSP00000306449,GPR37,613,"Prosaposin receptor GPR37; Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000306459,B4GALT6,382,"Beta-1,4-galactosyltransferase 6; Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Belongs to the glycosyltransferase 7 family." 9606.ENSP00000306461,SPRR1B,89,"Cornifin-B; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. Can function as both amine donor and acceptor in transglutaminase-mediated cross-linkage; Belongs to the cornifin (SPRR) family." 9606.ENSP00000306473,SHCBP1,672,"SHC SH2 domain-binding protein 1; May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells." 9606.ENSP00000306490,CHRM1,460,"Muscarinic acetylcholine receptor M1; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover; Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM1 sub-subfamily." 9606.ENSP00000306496,RAB33B,229,"Ras-related protein Rab-33B; Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation." 9606.ENSP00000306497,KCNJ4,445,"Inward rectifier potassium channel 4; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity); Belongs to the inward rectifier-type potassium channel [...] " 9606.ENSP00000306512,CXCL8,99,"Interleukin-8; IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively." 9606.ENSP00000306522,CAMTA1,1673,Calmodulin-binding transcription activator 1; Transcriptional activator. May act as a tumor suppressor. Belongs to the CAMTA family. 9606.ENSP00000306523,INSM2,566,Insulinoma-associated protein 2; May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons. 9606.ENSP00000306528,DESI2,194,Deubiquitinase DESI2; Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'- linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization. 9606.ENSP00000306548,MRPL13,178,Mitochondrial ribosomal protein L13; Belongs to the universal ribosomal protein uL13 family. 9606.ENSP00000306549,HSFY2,401,Heat shock transcription factor Y-linked 2. 9606.ENSP00000306561,OGG1,424,"DNA-(apurinic or apyrimidinic site) lyase; DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N- methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion; Belongs to the type-1 OGG1 family." 9606.ENSP00000306564,TMEM42,159,Transmembrane protein 42. 9606.ENSP00000306565,ISG20,181,"Interferon-stimulated gene 20 kDa protein; Interferon-induced antiviral exoribonuclease that acts on single-stranded RNA and also has minor activity towards single-stranded DNA. Exhibits antiviral activity against RNA viruses including hepatitis C virus (HCV), hepatitis A virus (HAV) and yellow fever virus (YFV) in an exonuclease-dependent manner. May also play additional roles in the maturation of snRNAs and rRNAs, and in ribosome biogenesis." 9606.ENSP00000306606,ADH1B,375,All-trans-retinol dehydrogenase [NAD(+)] ADH1B; Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate to retinoid metabolism. In vitro can also catalyzes the NADH-dependent reduction of all-trans- retinal and its derivatives such as all-trans-4-oxoretinal. Catalyzes in the oxidative direction with higher efficiency. Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal. 9606.ENSP00000306614,PPIH,177,"Peptidyl-prolyl cis-trans isomerase H; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone." 9606.ENSP00000306625,ASPSCR1,647,Tether containing UBX domain for GLUT4; Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. 9606.ENSP00000306627,SLC9C1,1177,"Sodium/hydrogen exchanger 10; Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity)." 9606.ENSP00000306637,RGPD8,1765,RANBP2 like and GRIP domain containing 8. 9606.ENSP00000306662,ADRA1B,520,Alpha-1B adrenergic receptor; This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine (PE)-stimulated ERK signaling in cardiac myocytes. Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1B sub-subfamily. 9606.ENSP00000306670,NUDT16L1,211,"Tudor-interacting repair regulator protein; Key regulator of TP53BP1 required to stabilize TP53BP1 and regulate its recruitment to chromatin. In absence of DNA damage, interacts with the tandem Tudor-like domain of TP53BP1, masking the region that binds histone H4 dimethylated at 'Lys-20' (H4K20me2), thereby preventing TP53BP1 recruitment to chromatin and maintaining TP53BP1 localization to the nucleus. Following DNA damage, ATM-induced phosphorylation of TP53BP1 and subsequent recruitment of RIF1 leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking the tandem Tudor-like domain an [...] " 9606.ENSP00000306678,ANKK1,765,Ankyrin repeat and kinase domain containing 1. 9606.ENSP00000306682,PPM1D,605,Protein phosphatase 1D; Involved in the negative regulation of p53 expression. Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins. Mediates MAPK14 dephosphorylation and inactivation. Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (By similarity). 9606.ENSP00000306752,BOLA2B,152,BolA-like protein 2; Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins. Acts together with the monothiol glutaredoxin GLRX3. 9606.ENSP00000306754,NEUROD2,382,"Neurogenic differentiation factor 2; Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down- regulating REST expression. Plays a role in the establishment and maturation of thalamocor [...] " 9606.ENSP00000306756,ZNF584,421,Zinc finger protein 584; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000306760,LRRC45,670,"Leucine-rich repeat-containing protein 45; Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion." 9606.ENSP00000306772,LDB2,373,LIM domain-binding protein 2; Binds to the LIM domain of a wide variety of LIM domain- containing transcription factors. 9606.ENSP00000306776,CCDC110,833,Coiled-coil domain containing 110. 9606.ENSP00000306788,ARL6IP1,203,"ADP-ribosylation factor-like protein 6-interacting protein 1; Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity- dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules. Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-depend [...] " 9606.ENSP00000306817,RBKS,322,"Ribokinase; Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway. Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily." 9606.ENSP00000306822,AVEN,362,Cell death regulator Aven; Protects against apoptosis mediated by Apaf-1. 9606.ENSP00000306844,SEMA4C,833,"Semaphorin-4C; Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade; Belongs to the semaphorin family." 9606.ENSP00000306864,VASN,673,Vasorin; May act as an inhibitor of TGF-beta signaling. 9606.ENSP00000306866,GABARAP,117,"Gamma-aminobutyric acid receptor-associated protein; Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with ly [...] " 9606.ENSP00000306881,SEC23A,765,"Protein transport protein Sec23A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity). Belongs to the SEC23/SEC24 family. SEC23 subfamily." 9606.ENSP00000306884,CXCL11,94,"C-X-C motif chemokine 11; Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses; Belongs to the intercrine alpha (chemokine CxC) family." 9606.ENSP00000306887,TMEM126A,195,Transmembrane protein 126A; Belongs to the TMEM126 family. 9606.ENSP00000306888,FAM151A,585,Protein FAM151A; Family with sequence similarity 151 member A; Belongs to the FAM151 family. 9606.ENSP00000306894,ETV5,510,ETS translocation variant 5; Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'; Belongs to the ETS family. 9606.ENSP00000306900,PRND,176,Prion-like protein doppel; Required for normal acrosome reaction and for normal male fertility (By similarity). Can bind Cu(2+) ; Belongs to the prion family. 9606.ENSP00000306902,MRPL4,311,Mitochondrial ribosomal protein L4; Belongs to the universal ribosomal protein uL4 family. 9606.ENSP00000306906,RNF181,153,E3 ubiquitin-protein ligase RNF181; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. 9606.ENSP00000306918,PCDHGC4,938,Protocadherin gamma-C4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000306920,GLB1,677,"Beta-galactosidase; [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans." 9606.ENSP00000306968,CDCA7,450,Cell division cycle-associated protein 7; Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. May play a role as transcriptional regulator. 9606.ENSP00000306974,OR1N1,311,Olfactory receptor 1N1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000306983,YEATS2,1422,"YEATS domain-containing protein 2; Chromatin reader component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. YEATS2 specifically recognizes and binds histone H3 crotonylated at 'Lys-27' (H3K27cr). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors." 9606.ENSP00000306991,HAS2,552,"Hyaluronan synthase 2; Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. M [...] " 9606.ENSP00000306997,MYOZ2,264,"Myozenin-2; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis." 9606.ENSP00000306999,ESCO2,601,"N-acetyltransferase ESCO2; Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3." 9606.ENSP00000307004,APLF,511,"Aprataxin and PNK-like factor; Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post- translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic- apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage. Together with PARP3, promotes the retention of the LIG4-XRCC4 complex on chromatin [...] " 9606.ENSP00000307006,IRX2,471,Iroquois-class homeodomain protein IRX-2; Iroquois homeobox 2. 9606.ENSP00000307014,KRT73,540,"Keratin, type II cytoskeletal 73; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)." 9606.ENSP00000307023,KLF11,512,"Krueppel-like factor 11; Transcription factor. Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth. Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity); Belongs to the Sp1 C2H2-type zinc-finger protein family." 9606.ENSP00000307041,BNC1,994,Zinc finger protein basonuclin-1; Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation. Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity). 9606.ENSP00000307046,SDC2,201,Syndecan-2; Cell surface proteoglycan that bears heparan sulfate. Regulates dendritic arbor morphogenesis (By similarity). 9606.ENSP00000307078,KIF5B,963,"Kinesin-1 heavy chain; Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2- dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By s [...] " 9606.ENSP00000307093,MAP6,813,"Microtubule-associated protein 6; Involved in microtubule stabilization in many cell types, including neuronal cells (By similarity). Specifically has microtubule cold stabilizing activity (By similarity). Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with TMEM106B. Regulates KIF5A- mediated axonal cargo transport (By similarity). Regulates axonal growth during neuron polarization (By similarity). Belongs to the STOP family." 9606.ENSP00000307126,DEGS2,323,Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2; Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase. 9606.ENSP00000307129,C8orf74,294,Uncharacterized protein C8orf74; Chromosome 8 open reading frame 74. 9606.ENSP00000307132,CST5,142,Cystatin-D; Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B. 9606.ENSP00000307134,CTNND2,1225,"Catenin delta-2; Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signaling. It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules." 9606.ENSP00000307142,TEX37,180,Testis-expressed sequence 37 protein; Testis expressed 37. 9606.ENSP00000307143,DONSON,566,"Protein downstream neighbor of Son; Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability." 9606.ENSP00000307155,RBMY1F,496,RNA binding motif protein Y-linked family 1 member F. 9606.ENSP00000307156,LAMB2,1798,"Laminin subunit beta-2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000307159,OR8B12,310,Olfactory receptor 8B12; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000307164,PATE1,126,Prostate and testis expressed 1; Belongs to the PATE family. 9606.ENSP00000307181,RAMAC,118,"RNA guanine-N7 methyltransferase activating subunit; Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Promotes the recruitment of the methyl donor, S- adenosyl-L-methionine, to RNMT. Regulates RNMT expression by a post-transcriptional stabilizing mechanism. Binds RNA." 9606.ENSP00000307183,ING2,280,"Inhibitor of growth protein 2; Seems to be involved in p53/TP53 activation and p53/TP53- dependent apoptotic pathways, probably by enhancing acetylation of p53/TP53. Component of a mSin3A-like corepressor complex, which is probably involved in deacetylation of nucleosomal histones. ING2 activity seems to be modulated by binding to phosphoinositides (PtdInsPs)." 9606.ENSP00000307188,ASL,464,Argininosuccinate lyase. 9606.ENSP00000307197,DNAJB7,309,DnaJ homolog subfamily B member 7; Probably acts as a co-chaperone. 9606.ENSP00000307199,AHSP,102,Alpha-hemoglobin-stabilizing protein; Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta- thalassemia; Belongs to the AHSP family. 9606.ENSP00000307208,BPTF,2920,"Nucleosome-remodeling factor subunit BPTF; Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors." 9606.ENSP00000307214,LCMT2,686,tRNA wybutosine-synthesizing protein 4; Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). May methylate the carboxyl group of leucine residues to form alpha-leucine ester residues; Belongs to the methyltransferase superfamily. LCMT family. 9606.ENSP00000307234,PCDHB1,818,Protocadherin beta-1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000307235,EIF2AK3,1116,"Eukaryotic translation initiation factor 2-alpha kinase 3; Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2- alpha/EIF2S1) on 'Ser-52' during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated [...] " 9606.ENSP00000307240,KRT74,529,"Keratin, type II cytoskeletal 74; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)." 9606.ENSP00000307241,PDHB,359,"Pyruvate dehydrogenase E1 component subunit beta, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle." 9606.ENSP00000307254,AAMDC,147,Mth938 domain-containing protein; May play a role in preadipocyte differentiation and adipogenesis; Belongs to the AAMDC family. 9606.ENSP00000307259,P2RY12,342,P2Y purinoceptor 12; Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation. 9606.ENSP00000307260,TBL2,447,Transducin beta like 2. 9606.ENSP00000307264,C11orf24,449,Uncharacterized protein C11orf24; Chromosome 11 open reading frame 24. 9606.ENSP00000307265,IRF2BP1,584,"Interferon regulatory factor 2-binding protein 1; Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. May act as an E3 ligase towards JDP2, enhancing its polyubiquitination. Represses ATF2-dependent transcriptional activation." 9606.ENSP00000307272,RPTOR,1335,"Regulatory-associated protein of mTOR; Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1- TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTO [...] " 9606.ENSP00000307275,SCAMP3,347,Secretory carrier-associated membrane protein 3; Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface; Belongs to the SCAMP family. 9606.ENSP00000307280,MYL1,194,"Myosin light chain 1/3, skeletal muscle isoform; Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function." 9606.ENSP00000307288,MCM7,719,"DNA replication licensing factor MCM7; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] " 9606.ENSP00000307292,CAVIN3,261,Caveolae-associated protein 3; Regulates the traffic and/or budding of caveolae. Plays a role in caveola formation in a tissue- specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates the equilibrium between cell surface-associated and cell surface- dissociated caveolae by promoting the rapid release of caveolae from the cell surface. Plays a role in the regulation of the circadian clock. Modulates the period length and phase of circadian gene expression and also regulates expression and interaction of the core [...] 9606.ENSP00000307297,CHST14,376,"Carbohydrate sulfotransferase 14; Catalyzes the transfer of sulfate to position 4 of the N- acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may [...] " 9606.ENSP00000307298,FEM1B,627,"Protein fem-1 homolog B; Component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. Involved in apoptosis by acting as a death receptor-associated protein that mediates apoptosis. Also involved in glucose homeostasis in pancreatic islet. Functions as an adapter/mediator in replication stress-induced signaling that leads to the activation of CHEK1; Belongs to the fem-1 family." 9606.ENSP00000307305,DDIT4,232,"DNA damage-inducible transcript 4 protein; Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell typ [...] " 9606.ENSP00000307321,HOXC10,342,Homeobox protein Hox-C10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family. 9606.ENSP00000307342,HCN1,890,Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli. 9606.ENSP00000307369,SHE,495,SH2 domain-containing adapter protein E; Src homology 2 domain containing E. 9606.ENSP00000307411,MLLT10,1068,"Protein AF-10; Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation." 9606.ENSP00000307423,MGAT2,447,"Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans." 9606.ENSP00000307443,SLC22A25,547,Solute carrier family 22 member 25; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000307449,NECAB2,386,N-terminal EF-hand calcium-binding protein 2; May act as a signaling scaffold protein that senses intracellular calcium. Can modulate ligand-induced internalization of ADORA2A and coupling efficiency of mGluR5/GRM5; for both receptors may regulate signaling activity such as promoting MAPK1/3 (ERK1/2) activation. 9606.ENSP00000307461,MINAR1,916,Major intrinsically disordered Notch2-binding receptor 1; Intrinsically disordered protein which may negatively regulate mTOR signaling pathway by stabilizing the mTOR complex component DEPTOR. Negatively regulates angiogenesis. Negatively regulates cell growth. Negatively regulates neurite outgrowth in hippocampal neurons (By similarity); Belongs to the MINAR family. 9606.ENSP00000307479,ARNT2,717,"Aryl hydrocarbon receptor nuclear translocator 2; Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function. Specifically recognizes the xenobiotic response element (XRE)." 9606.ENSP00000307491,WDR48,677,"WD repeat-containing protein 48; Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46. Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity of complexes containing USP12. Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme. Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. In complex with USP12, acts [...] " 9606.ENSP00000307508,CALB2,271,Calretinin; Calretinin is a calcium-binding protein which is abundant in auditory neurons; Belongs to the calbindin family. 9606.ENSP00000307513,MRC2,1479,"C-type mannose receptor 2; May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissu [...] " 9606.ENSP00000307515,OR9G4,327,Olfactory receptor 9G4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000307519,TMPRSS11E,423,Transmembrane protease serine 11E non-catalytic chain; Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position. 9606.ENSP00000307540,CST2,141,Cystatin-SA; Thiol protease inhibitor. 9606.ENSP00000307549,NPTX1,432,Neuronal pentraxin-1; May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. 9606.ENSP00000307567,QARS1,775,Glutamine--tRNA ligase; Glutamine--tRNA ligase. Plays a critical role in brain development. Belongs to the class-I aminoacyl-tRNA synthetase family. 9606.ENSP00000307598,OR9K2,335,Olfactory receptor 9K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000307604,ZBTB5,677,Zinc finger and BTB domain-containing protein 5; May be involved in transcriptional regulation. 9606.ENSP00000307634,AGAP1,857,"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1; GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)- dependent trafficking of proteins in the endosomal-lysosomal system. Belongs to the centaurin gamma-like family." 9606.ENSP00000307636,MORN4,146,MORN repeat-containing protein 4; Plays a role in promoting axonal degeneration following neuronal injury by toxic insult or trauma. 9606.ENSP00000307640,TTC36,189,Tetratricopeptide repeat domain 36. 9606.ENSP00000307666,VPS50,964,"Syndetin; Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN)." 9606.ENSP00000307674,CANT1,401,Soluble calcium-activated nucleotidase 1; Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis. Belongs to the apyrase family. 9606.ENSP00000307684,TADA3,432,"Transcriptional adapter 3; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53- dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Belongs to the NGG1 family." 9606.ENSP00000307697,ACOX2,681,Peroxisomal acyl-coenzyme A oxidase 2; Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids. Capable of oxidizing short as well as long chain 2-methyl branched fatty acids (By similarity); Belongs to the acyl-CoA oxidase family. 9606.ENSP00000307701,TSPAN5,268,Tetraspanin-5; Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44. Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000307705,H1-4,219,"Histone H1.4; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity)." 9606.ENSP00000307722,NSG2,171,Neuronal vesicle trafficking associated 2. 9606.ENSP00000307726,OR2C1,312,Olfactory receptor 2C1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000307734,OR6Q1,317,Olfactory receptor 6Q1; Odorant receptor. 9606.ENSP00000307741,CMTM8,173,CKLF like MARVEL transmembrane domain containing 8; Belongs to the chemokine-like factor family. 9606.ENSP00000307746,ZNF608,1512,"Zinc finger protein 608; Transcription factor, which represses ZNF609 transcription." 9606.ENSP00000307766,HTR1E,365,"5-hydroxytryptamine receptor 1E; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity." 9606.ENSP00000307774,ZNF239,458,Zinc finger protein 239; May be involved in transcriptional regulation. 9606.ENSP00000307786,CYCS,105,"Cytochrome c; Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain." 9606.ENSP00000307801,ZPLD1,431,"Zona pellucida-like domain-containing protein 1, secreted form; Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ." 9606.ENSP00000307822,NPFFR2,522,"Neuropeptide FF receptor 2; Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system." 9606.ENSP00000307831,ADGRF3,1079,Adhesion G-protein coupled receptor F3; Orphan receptor. 9606.ENSP00000307833,FBXO22,403,"F-box only protein 22; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes the proteasome- dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function." 9606.ENSP00000307850,DRAP1,205,Dr1-associated corepressor; The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. 9606.ENSP00000307853,MUS81,551,"Crossover junction endonuclease MUS81; Interacts with EME1 and EME2 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks. Belongs to the XPF family." 9606.ENSP00000307854,PCMTD2,361,protein-L-isoaspartate O-methyltransferase domain containing 2; Belongs to the methyltransferase superfamily. L- isoaspartyl/D-aspartyl protein methyltransferase family. 9606.ENSP00000307858,ZBTB4,1013,"Zinc finger and BTB domain-containing protein 4; Transcriptional repressor with bimodal DNA-binding specificity. Represses transcription in a methyl-CpG-dependent manner. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Can also bind specifically to a single methyl-CpG pair and can bind hemimethylated DNA but with a lower affinity compared to methylated DNA. Plays a role in postnatal myogenesis, may be involved in [...] " 9606.ENSP00000307860,DIRC1,104,Disrupted in renal carcinoma 1. 9606.ENSP00000307863,U2AF2,475,"Splicing factor U2AF 65 kDa subunit; Plays a role in pre-mRNA splicing and 3'-end processing. By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucl [...] " 9606.ENSP00000307889,RPL13,211,Ribosomal protein L13. 9606.ENSP00000307900,GLUL,373,"Glutamine synthetase; Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine. Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts. Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane locali [...] " 9606.ENSP00000307911,CHST2,530,Carbohydrate sulfotransferase 2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N-linked glycans and within mucin-associated glycans that can ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X and in lymphocyte homing to Peyer pat [...] 9606.ENSP00000307939,GCC2,1684,"GRIP and coiled-coil domain-containing protein 2; Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi- associated microtubules through recruitment of CLASP1 and CLASP2." 9606.ENSP00000307940,EEF2,858,"Elongation factor 2; Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome." 9606.ENSP00000307951,HIGD2B,106,HIG1 hypoxia inducible domain family member 2B. 9606.ENSP00000307954,FAM174A,190,Membrane protein FAM174A; Family with sequence similarity 174 member A. 9606.ENSP00000307958,IQCF1,205,IQ domain-containing protein F1; Involved in sperm capacitation and acrosome reaction. 9606.ENSP00000307959,DST,5537,"Dystonin; Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for re [...] " 9606.ENSP00000307971,RFNG,331,"Beta-1,3-N-acetylglucosaminyltransferase radical fringe; Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O- fucose residues at specific EGF-like domains resulting in enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis." 9606.ENSP00000307975,METTL18,372,Histidine protein methyltransferase 1 homolog; Probable histidine methyltransferase; Belongs to the methyltransferase superfamily. METTL18 family. 9606.ENSP00000308000,TUT1,912,"Speckle targeted PIP5K1A-regulated poly(A) polymerase; Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3'-end cleavage of pre-mRNAs: binds to the 3'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3'UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher tha [...] " 9606.ENSP00000308012,PABPC5,382,Polyadenylate-binding protein 5; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity). 9606.ENSP00000308022,TADA2B,420,Transcriptional adapter 2-beta; Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2. 9606.ENSP00000308024,PCSK1,753,"Neuroendocrine convertase 1; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP; Belongs to the peptidase S8 family. Furin subfamily." 9606.ENSP00000308032,CYP2S1,504,"Cytochrome P450 2S1; A cytochrome P450 monooxygenase involved in the metabolism of retinoids and eicosanoids. In epidermis, may contribute to the oxidative metabolism of all-trans- retinoic acid. For this activity, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Additionally, displays peroxidase and isomerase activities toward various oxygenated eicosanoids such as prostaglandin H2 (PGH2) and hydroperoxyeicosatetraenoates (H [...] " 9606.ENSP00000308082,OR10P1,313,Olfactory receptor 10P1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000308117,CD248,757,Endosialin; May play a role in tumor angiogenesis. 9606.ENSP00000308122,ATP6V0A4,840,V-type proton ATPase 116 kDa subunit a isoform 4; Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. 9606.ENSP00000308149,AMZ1,498,Archaemetzincin-1; Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2. Belongs to the peptidase M54 family. 9606.ENSP00000308179,WDR3,943,WD repeat domain 3; Belongs to the WD repeat WDR3/UTP12 family. 9606.ENSP00000308193,RNASEH2C,164,"Ribonuclease H2 subunit C; Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes." 9606.ENSP00000308208,MMP14,582,Matrix metalloproteinase-14; Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7. Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2. Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiog [...] 9606.ENSP00000308219,RGMB,478,RGM domain family member B; Member of the repulsive guidance molecule (RGM) family that contributes to the patterning of the developing nervous system (By similarity). Acts as a bone morphogenetic protein (BMP) coreceptor that potentiates BMP signaling (By similarity). Promotes neuronal adhesion (By similarity). May inhibit neurite outgrowth. 9606.ENSP00000308236,COMMD1,190,COMM domain-containing protein 1; Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2. Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity. Involved in the regulation of membrane expression and ubiquitin [...] 9606.ENSP00000308258,PTDSS2,487,Phosphatidylserine synthase 2; Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine; Belongs to the phosphatidyl serine synthase family. 9606.ENSP00000308275,MRPL38,380,Mitochondrial ribosomal protein L38; Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily. 9606.ENSP00000308279,C9orf131,1079,Uncharacterized protein C9orf131; Chromosome 9 open reading frame 131. 9606.ENSP00000308292,FAM170B,283,Protein FAM170B; Plays a role in fertilization through the acrosome reaction. Belongs to the FAM170 family. 9606.ENSP00000308318,PPP1R3B,285,"Protein phosphatase 1 regulatory subunit 3B; Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated gl [...] " 9606.ENSP00000308332,UTP23,249,rRNA-processing protein UTP23 homolog; Involved in rRNA-processing and ribosome biogenesis. Belongs to the UTP23/FCF1 family. UTP23 subfamily. 9606.ENSP00000308339,SEC16B,1060,"Protein transport protein Sec16B; Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. Involved in peroxisome biogenesis. Regulates the transport of peroxisomal biogenesis factors PEX3 and PEX16 from the ER to peroxisomes ; Belongs to the SEC16 family." 9606.ENSP00000308351,MLKL,471,"Mixed lineage kinase domain-like protein; Pseudokinase that plays a key role in TNF-induced necroptosis, a programmed cell death process. Activated following phosphorylation by RIPK3, leading to homotrimerization, localization to the plasma membrane and execution of programmed necrosis characterized by calcium influx and plasma membrane damage. Does not have protein kinase activity. Binds to highly phosphorylated inositol phosphates such as inositolhexakisphosphate (InsP6) which is essential for its necroptotic function." 9606.ENSP00000308354,TIGD3,471,Tigger transposable element derived 3. 9606.ENSP00000308361,P2RY14,338,"P2Y purinoceptor 14; Receptor for UDP-glucose and other UDP-sugar coupled to G- proteins. Not activated by ATP, ADP, UTP or ATP." 9606.ENSP00000308369,LEMD3,911,"Inner nuclear membrane protein Man1; Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest." 9606.ENSP00000308405,H2AZ2,128,"Histone H2A.V; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post- translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for c [...] " 9606.ENSP00000308413,RPS6KB2,482,"Ribosomal protein S6 kinase beta-2; Phosphorylates specifically ribosomal protein S6. Seems to act downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression in an alternative pathway regulated by MEAK7 ; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily." 9606.ENSP00000308430,CYB5B,150,Cytochrome b5 type B; Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. 9606.ENSP00000308452,KRT17,432,"Keratin, type I cytoskeletal 17; Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a mark [...] " 9606.ENSP00000308461,RND1,232,"Rho-related GTP-binding protein Rho6; Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments." 9606.ENSP00000308472,EIF4EBP3,100,"Eukaryotic translation initiation factor 4E-binding protein 3; Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation." 9606.ENSP00000308479,GPR171,319,Probable G-protein coupled receptor 171; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000308496,ARL10,244,ADP-ribosylation factor-like protein 10; ADP ribosylation factor like GTPase 10; Belongs to the small GTPase superfamily. Arf family. 9606.ENSP00000308533,GEMIN2,280,"Gem-associated protein 2; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] " 9606.ENSP00000308535,GOLT1A,132,Vesicle transport protein GOT1A; May be involved in fusion of ER-derived transport vesicles with the Golgi complex; Belongs to the GOT1 family. 9606.ENSP00000308541,F2,622,"Activation peptide fragment 1; Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing; Belongs to the peptidase S1 family." 9606.ENSP00000308546,MEPCE,689,"7SK snRNA methylphosphate capping enzyme; S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK snRNA, leading to stabilize it." 9606.ENSP00000308548,ZNHIT2,403,Zinc finger HIT domain-containing protein 2; May act as a bridging factor mediating the interaction between the R2TP/Prefoldin-like (R2TP/PFDL) complex and U5 small nuclear ribonucleoprotein (U5 snRNP). Required for the interaction of R2TP complex subunit RPAP3 and prefoldin-like subunit URI1 with U5 snRNP proteins EFTUD2 and PRPF8. May play a role in regulating the composition of the U5 snRNP complex. 9606.ENSP00000308576,RHOD,210,Rho-related GTP-binding protein RhoD; Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution; Belongs to the small GTPase superfamily. Rho family. 9606.ENSP00000308578,ZNF431,576,Zinc finger protein 431; Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000308583,CENPS,138,"Centromere protein S; DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked rep [...] " 9606.ENSP00000308591,GAL3ST3,431,"Galactose-3-O-sulfotransferase 3; Transfers a sulfate to position 3 of non-reducing beta- galactosyl residues in N-glycans and core2-branched O-glycans. Has high activity towards Gal-beta-1,4-GlcNAc, Gal-beta-1,4(Fuc-alpha-1,3)GlcNAc and lower activity towards Gal-beta-1,3(Fuc-alpha-1,4)GlcNAc. Belongs to the galactose-3-O-sulfotransferase family." 9606.ENSP00000308597,DLEC1,1755,Deleted in lung and esophageal cancer protein 1; May act as a tumor suppressor by inhibiting cell proliferation. 9606.ENSP00000308606,AGR3,166,Anterior gradient protein 3; Required for calcium-mediated regulation of ciliary beat frequency and mucociliary clearance in the airway. Might be involved in the regulation of intracellular calcium in tracheal epithelial cells. Belongs to the AGR family. 9606.ENSP00000308610,GPD2,727,"Glycerol-3-phosphate dehydrogenase, mitochondrial; Glycerol-3-phosphate dehydrogenase 2; Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family." 9606.ENSP00000308622,GLE1,698,Nucleoporin GLE1; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC). 9606.ENSP00000308689,OR10AD1,317,Olfactory receptor 10AD1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000308695,DPY19L1,675,Probable C-mannosyltransferase DPY19L1; Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. 9606.ENSP00000308716,INHBC,352,"Inhibin beta C chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Belongs to the TGF-beta family." 9606.ENSP00000308717,MRPL48,212,Mitochondrial ribosomal protein L48. 9606.ENSP00000308720,PRSS1,247,"Alpha-trypsin chain 1; Has activity against the synthetic substrates Boc-Phe-Ser- Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg- Mec. The single-chain form is more active than the two-chain form against all of these substrates; Belongs to the peptidase S1 family." 9606.ENSP00000308725,GABRB3,473,"Gamma-aminobutyric acid receptor subunit beta-3; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By sim [...] " 9606.ENSP00000308727,SUSD5,629,Sushi domain containing 5. 9606.ENSP00000308733,GPR151,419,G-protein coupled receptor 151; Proton-sensing G-protein coupled receptor. 9606.ENSP00000308750,CBX2,532,"Chromobox protein homolog 2; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in [...] " 9606.ENSP00000308753,TMOD3,352,"Tropomodulin-3; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity); Belongs to the tropomodulin family." 9606.ENSP00000308759,ZBTB21,1066,Zinc finger and BTB domain-containing protein 21; Acts as a transcription repressor. 9606.ENSP00000308764,OR52I2,350,Olfactory receptor 52I2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000308770,SULT1B1,296,"Sulfotransferase family cytosolic 1B member 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3'-diiodothyronine, triidothyronine, reverse triiodothyronine and thyroxine." 9606.ENSP00000308772,ANKS4B,417,"Ankyrin repeat and SAM domain-containing protein 4B; As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex. May play a role in cellular response to endoplasmic reticulum stress (By similarity)." 9606.ENSP00000308782,GP6,620,"Platelet glycoprotein VI; Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2." 9606.ENSP00000308815,CCL19,98,"C-C motif chemokine 19; May play a role not only in inflammatory and immunological responses but also in normal lymphocyte recirculation and homing. May play an important role in trafficking of T-cells in thymus, and T-cell and B-cell migration to secondary lymphoid organs. Binds to chemokine receptor CCR7. Recombinant CCL19 shows potent chemotactic activity for T-cells and B-cells but not for granulocytes and monocytes. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta- arrestin (ARRB1/2) to ACKR4; Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000308820,RIC3,369,"Protein RIC-3; Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4." 9606.ENSP00000308873,CCDC74B,380,Coiled-coil domain containing 74B. 9606.ENSP00000308893,SNED1,1413,"Sushi, nidogen and EGF like domains 1." 9606.ENSP00000308895,SLC19A1,591,"Reduced folate transporter; Transporter that mediates the import of reduced folates and a subset of cyclic dinucleotides. Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate. Also able to mediate the import of antifolate drug methotrexate. Acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP. Mechanistically, acts as an antiporter, which export of intracellular organic anions to facilitate uptake of [...] " 9606.ENSP00000308897,MRPL11,192,Mitochondrial ribosomal protein L11; Belongs to the universal ribosomal protein uL11 family. 9606.ENSP00000308908,GPR148,347,Probable G-protein coupled receptor 148; Orphan receptor. 9606.ENSP00000308921,ZCCHC12,402,Zinc finger CCHC domain-containing protein 12; Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic- neuron-specific gene expression (By similarity). 9606.ENSP00000308925,TLR10,811,"Toll-like receptor 10; Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity)." 9606.ENSP00000308926,PPM1J,505,"Protein phosphatase, Mg2+/Mn2+ dependent 1J; Belongs to the PP2C family." 9606.ENSP00000308937,PMP22,160,"Peripheral myelin protein 22; Might be involved in growth regulation, and in myelinization in the peripheral nervous system; Belongs to the PMP-22/EMP/MP20 family." 9606.ENSP00000308938,PLG,810,"Plasmin heavy chain A, short form; Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invas [...] " 9606.ENSP00000308944,HLTF,1009,"Helicase-like transcription factor; Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40 enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'-linked polyubiquitination of chromatin-bound PCNA." 9606.ENSP00000308970,PSG1,428,Pregnancy specific beta-1-glycoprotein 1; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000308976,VWC2L,222,Von Willebrand factor C domain-containing protein 2-like; May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization. 9606.ENSP00000309007,THAP6,222,THAP domain containing 6. 9606.ENSP00000309031,VCPIP1,1222,"Deubiquitinating protein VCIP135; Acts as a deubiquitinating enzyme. Necessary for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP- mediated formation of transitional endoplasmic reticulum (tER). Mediates dissociation of the ternary complex containing STX5A, NSFL1C and VCP (By similarity). Hydrolyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitin chains." 9606.ENSP00000309036,TSPAN17,332,Tetraspanin-17; Regulates ADAM10 maturation; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000309052,CATSPER1,780,"Cation channel sperm-associated protein 1; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte." 9606.ENSP00000309087,PLAC8L1,177,PLAC8-like protein 1; PLAC8 like 1; Belongs to the cornifelin family. 9606.ENSP00000309092,GMPPB,387,"Mannose-1-phosphate guanyltransferase beta; Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids. Belongs to the transferase hexapeptide repeat family." 9606.ENSP00000309096,B4GAT1,415,"Beta-1,4-glucuronyltransferase 1; Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose- beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan. Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Required for [...] " 9606.ENSP00000309116,PTPN7,465,Tyrosine-protein phosphatase non-receptor type 7; Protein phosphatase that acts preferentially on tyrosine- phosphorylated MAPK1. Plays a role in the regulation of T and B- lymphocyte development and signal transduction. Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily. 9606.ENSP00000309124,OLR1,273,"Oxidized low-density lipoprotein receptor 1, soluble form; Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses includin [...] " 9606.ENSP00000309126,NSUN5,470,Probable 28S rRNA (cytosine-C(5))-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA. 9606.ENSP00000309132,BCL2L14,327,Apoptosis facilitator Bcl-2-like protein 14; Plays a role in apoptosis. 9606.ENSP00000309141,MARCHF3,253,E3 ubiquitin-protein ligase MARCHF3; E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. 9606.ENSP00000309142,PDE12,609,"2',5'-phosphodiesterase 12; Enzyme that cleaves 2',5'-phosphodiester bond linking adenosines of the 5'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. Degrades triphosphorylated 2-5A to produce AMP and ATP. Also cleaves 3',5'-phosphodiester bond of oligoadenylates. Plays a role as a negative regulator of the 2-5A system that is one of the major pathways for antiviral and antitumor functions induced by interferons (IFNs). Suppression of this enzyme increases cellular 2-5A levels and decreases viral replication in cultured [...] " 9606.ENSP00000309161,ZNF471,626,Zinc finger protein 471; May be involved in transcriptional regulation. 9606.ENSP00000309163,RCE1,329,"CAAX prenyl protease 2; Proteolytically removes the C-terminal three residues of farnesylated and geranylated proteins. Seems to be able to process K- Ras, N-Ras, H-Ras, RAP1B and G-gamma-1." 9606.ENSP00000309186,SH3RF3,882,E3 ubiquitin-protein ligase SH3RF3; Has E3 ubiquitin-protein ligase activity. 9606.ENSP00000309189,CBY2,448,Chibby family member 2. 9606.ENSP00000309198,UBE3C,1083,Ubiquitin-protein ligase E3C; E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys- 48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo. 9606.ENSP00000309233,POMZP3,187,POM121 and ZP3 fusion. 9606.ENSP00000309245,LRRC7,1495,Leucine-rich repeat-containing protein 7; Required for normal synaptic spine architecture and function. Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term depression. Belongs to the LAP (LRR and PDZ) protein family. 9606.ENSP00000309262,USP48,1035,Ubiquitin carboxyl-terminal hydrolase 48; Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites; Belongs to the peptidase C19 family. 9606.ENSP00000309270,CHST1,411,"Carbohydrate sulfotransferase 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are sulfated. May function in the sulfation of sialyl N-acetyllactosamine oligosaccharide chains attached to glycoproteins. P [...] " 9606.ENSP00000309285,CCDC96,555,Coiled-coil domain containing 96. 9606.ENSP00000309330,ZNF680,530,Zinc finger protein 680; May be involved in transcriptional regulation. 9606.ENSP00000309334,RPL15,204,Ribosomal protein L15. 9606.ENSP00000309336,HOXC5,222,Homeobox protein Hox-C5; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. 9606.ENSP00000309338,CLCF1,225,"Cardiotrophin-like cytokine factor 1; In complex with CRLF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). Also stimulates B-cells. Binds to and activates the ILST/gp130 receptor; Belongs to the IL-6 superfamily." 9606.ENSP00000309376,CD164,197,Sialomucin core protein 24; Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity). 9606.ENSP00000309402,TRAM1L1,369,Translocating chain-associated membrane protein 1-like 1; Stimulatory or required for the translocation of secretory proteins across the ER membrane; Belongs to the TRAM family. 9606.ENSP00000309415,CLTB,229,Clathrin light chain B; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin light chain family. 9606.ENSP00000309429,ZDHHC24,284,Probable palmitoyltransferase ZDHHC24; Zinc finger DHHC-type containing 24; Belongs to the DHHC palmitoyltransferase family. 9606.ENSP00000309430,PIGS,555,"GPI transamidase component PIG-S; Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates." 9606.ENSP00000309432,RETREG3,466,Reticulophagy regulator 3; Mediates NRF1-enhanced neurite outgrowth. Belongs to the RETREG family. 9606.ENSP00000309439,HOXB9,250,Homeobox protein Hox-B9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family. 9606.ENSP00000309457,VPS41,854,"Vacuolar protein sorting-associated protein 41 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a core component of the putative HOPS endosomal tethering complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal me [...] " 9606.ENSP00000309463,LIPT2,231,"Putative lipoyltransferase 2, mitochondrial; Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate- dependent enzymes, which catalyze essential redox reactions. Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate (By similarity); Belongs to the LipB family." 9606.ENSP00000309474,PSMD1,953,"26S proteasome non-ATPase regulatory subunit 1; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S1 family." 9606.ENSP00000309477,ACO1,889,"Cytoplasmic aconitate hydratase; Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding." 9606.ENSP00000309493,GPRC6A,926,"G-protein coupled receptor family C group 6 member A; Receptor activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids. The L-alpha amino acids respond is augmented by divalent cations Ca(2+) and Mg(2+). Activated by extracellular calcium and osteocalcin. Seems to act through a G(q)/G(11) and G(i)-coupled pathway. Mediates the non-genomic effects of androgens in multiple tissue. May coordinate nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, diva [...] " 9606.ENSP00000309501,NWD2,1742,NACHT and WD repeat domain containing 2. 9606.ENSP00000309504,SLC26A7,663,"Anion exchange transporter; Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment- specific anion exchanger. Plays a major role in gastric acid secretion." 9606.ENSP00000309515,PHYHD1,297,Phytanoyl-CoA dioxygenase domain-containing protein 1; Isoform 1 has alpha-ketoglutarate-dependent dioxygenase activity. Does not show detectable activity towards fatty acid CoA thioesters. Is not expected to be active with phytanoyl CoA. Isoform 2 and isoform 3 probably lack enzyme activity. 9606.ENSP00000309521,LIME1,295,"Lck-interacting transmembrane adapter 1; Involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and TCR (T-cell antigen receptor)-mediated T-cell signaling in T-cells. In absence of TCR signaling, may be involved in CD4- mediated inhibition of T-cell activation. Couples activation of these receptors and their associated kinases with distal intracellular events such as calcium mobilization or MAPK activation through the recruitment of PLCG2, GRB2, GRAP2, and other signaling molecules." 9606.ENSP00000309524,CSHL1,222,Chorionic somatomammotropin hormone-like 1; May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation. 9606.ENSP00000309538,DAPL1,107,Death-associated protein-like 1; May play a role in the early stages of epithelial differentiation or in apoptosis. 9606.ENSP00000309542,PGA5,388,"Pepsin A-5; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent." 9606.ENSP00000309548,PDP2,529,"[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial; Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex." 9606.ENSP00000309555,HCFC1,2035,"HCF C-terminal chain 1; Involved in control of the cell cycle. Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300. Coactivator for EGR2 and GABP2. Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. As pa [...] " 9606.ENSP00000309565,UQCRH,91,"Cytochrome b-c1 complex subunit 6, mitochondrial; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradie [...] " 9606.ENSP00000309570,KLF7,302,"Krueppel-like factor 7; Transcriptional factor. Plays a critical role in neuronal morphogenesis and survival of sensory neurons (By similarity). Represses the corneal epithelium differentiation. Acts also as a metabolic regulator, by modulating insulin sensitivity in pancreatic beta cells and skeletal muscle cells. Inhibits transcriptional inducers of adipogenesis and has a repressive role in the expression of several adipokines, including leptin." 9606.ENSP00000309572,TERT,1132,"Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nuc [...] " 9606.ENSP00000309591,PRKACA,351,"cAMP-dependent protein kinase catalytic subunit alpha; Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP. RORA is activated by phosphorylation. Required for glucose- mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in the [...] " 9606.ENSP00000309595,TWNK,684,"Twinkle protein, mitochondrial; Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals." 9606.ENSP00000309597,MAP3K11,847,"Mitogen-activated protein kinase kinase kinase 11; Activates the JUN N-terminal pathway. Required for serum- stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen- stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle." 9606.ENSP00000309606,ZNF408,720,Zinc finger protein 408; May be involved in transcriptional regulation. 9606.ENSP00000309610,METTL2A,378,tRNA N(3)-methylcytidine methyltransferase METTL2A; S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Thr)(UGU) and tRNA(Arg)(CCU). Belongs to the methyltransferase superfamily. METL family. 9606.ENSP00000309640,XXYLT1,393,"Xyloside xylosyltransferase 1; Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose. Known targets include Notch proteins and coagulation factors, such as F9 ; Belongs to the glycosyltransferase 8 family." 9606.ENSP00000309644,BOD1,185,Biorientation of chromosomes in cell division protein 1; Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles. 9606.ENSP00000309653,GLIS1,620,"Zinc finger protein GLIS1; Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells. Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast (By similarity); Belongs to the GLI C2H2-type zinc-finger protein family." 9606.ENSP00000309673,OR52W1,320,Olfactory receptor 52W1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000309689,LRCH4,683,Leucine rich repeats and calponin homology domain containing 4. 9606.ENSP00000309714,SH3PXD2B,911,"SH3 and PX domain-containing protein 2B; Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity)." 9606.ENSP00000309741,SLCO4C1,724,"Solute carrier organic anion transporter family member 4C1; Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by en [...] " 9606.ENSP00000309749,APOBEC3F,373,"DNA dC->dU-editing enzyme APOBEC-3F; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels [...] " 9606.ENSP00000309751,SLC16A13,426,Monocarboxylate transporter 13; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. 9606.ENSP00000309767,NLRP6,892,"NACHT, LRR and PYD domains-containing protein 6; As the sensor component of the NLRP6 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP6, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. The precise NLRP6 activation stimulus has not been identified yet (By similarity). Essent [...] " 9606.ENSP00000309772,CPED1,1026,Cadherin like and PC-esterase domain containing 1. 9606.ENSP00000309790,MIS18BP1,1132,Mis18-binding protein 1; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. 9606.ENSP00000309792,TMEM234,140,Transmembrane protein 234; Belongs to the TMEM234 family. 9606.ENSP00000309794,TBC1D16,767,TBC1 domain family member 16; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000309830,RPL38,70,Ribosomal protein L38; Belongs to the eukaryotic ribosomal protein eL38 family. 9606.ENSP00000309836,CCDC13,715,Coiled-coil domain-containing protein 13; Required for primary cilia formation and promotes the localization of the ciliopathy protein BBS4 to both centriolar satellites and cilia. 9606.ENSP00000309899,NARF,456,Nuclear prelamin A recognition factor; Belongs to the NARF family. 9606.ENSP00000309913,TBX5,518,T-box transcription factor TBX5; DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation. Binds to the core DNA motif of NPPA promoter. 9606.ENSP00000309945,SPNS1,528,Protein spinster homolog 1; Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death. 9606.ENSP00000309953,EFEMP2,443,EGF containing fibulin extracellular matrix protein 2; Belongs to the fibulin family. 9606.ENSP00000309968,ADAM17,824,"Disintegrin and metalloproteinase domain-containing protein 17; Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membra [...] " 9606.ENSP00000310003,CNIH2,160,"Protein cornichon homolog 2; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors. Belongs to the cornichon family." 9606.ENSP00000310006,NR1D2,579,"Nuclear receptor subfamily 1 group D member 2; Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARNTL/BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 co [...] " 9606.ENSP00000310008,SWSAP1,229,ATPase SWSAP1; ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity. 9606.ENSP00000310015,ADAT1,502,tRNA-specific adenosine deaminase 1; Specifically deaminates adenosine-37 to inosine in tRNA-Ala. 9606.ENSP00000310036,CD34,385,"Hematopoietic progenitor cell antigen CD34; Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins." 9606.ENSP00000310042,ZNF622,477,"Zinc finger protein 622; May behave as an activator of the bound transcription factor, MYBL2, and be involved in embryonic development." 9606.ENSP00000310057,FAM53A,398,Protein FAM53A; May play an important role in neural development; the dorsomedial roof of the third ventricle. Belongs to the FAM53 family. 9606.ENSP00000310094,TAOK2,1235,"Serine/threonine-protein kinase TAO2; Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress- activated MAPK cascade, pro [...] " 9606.ENSP00000310110,TMEM255A,349,Transmembrane protein 255A; Belongs to the TMEM255 family. 9606.ENSP00000310117,PPP1R14B,147,Protein phosphatase 1 regulatory subunit 14B; Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity). 9606.ENSP00000310120,ALG10B,473,"Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N- linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. Has a role in maintenance of cochlear outer hair cell function (By similarity)." 9606.ENSP00000310129,PSMD2,908,"26S proteasome non-ATPase regulatory subunit 2; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S2 family." 9606.ENSP00000310149,CYP2W1,490,"Cytochrome P450 2W1; Seems to have broad catalytic activity towards several chemicals, including polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines. Active also in the metabolism of indoline substrates and is able to activate aflatoxin B1 into cytotoxic products. Furthermore, it seems to be involved in the oxydation of lysophospholipids and fatty acids. Belongs to the cytochrome P450 family." 9606.ENSP00000310170,FOSL1,271,"Fos-related antigen 1; FOS like 1, AP-1 transcription factor subunit; Belongs to the bZIP family. Fos subfamily." 9606.ENSP00000310182,FAM241A,132,Uncharacterized protein FAM241A; Family with sequence similarity 241 member A. 9606.ENSP00000310205,NRIP3,241,Nuclear receptor interacting protein 3. 9606.ENSP00000310208,SLC5A6,635,"Sodium-dependent multivitamin transporter; Transports pantothenate, biotin and lipoate in the presence of sodium; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family." 9606.ENSP00000310216,KLRC4,158,NKG2-F type II integral membrane protein; May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells. 9606.ENSP00000310219,HSPA6,643,"Heat shock 70 kDa protein 6; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP [...] " 9606.ENSP00000310226,RAB1B,201,"Ras-related protein Rab-1B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Plays a role in the initial events of the autophagic vacuole development which take place at specialized regions of the endoplasmic reticulum. Regulates vesicular transport between the [...] " 9606.ENSP00000310241,SLC22A13,551,Solute carrier family 22 member 13. 9606.ENSP00000310244,RASGRP1,797,"RAS guanyl-releasing protein 1; Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Regulates T- cell/B-cell development, homeostasis and differentiation by coupling T- lymphocyte/B-lymphocyte antigen receptors to Ras. Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways. Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By [...] " 9606.ENSP00000310255,GPR152,470,Probable G-protein coupled receptor 152; Orphan receptor. 9606.ENSP00000310260,INTS6,887,"Integrator complex subunit 6; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex. May have a tumor suppressor role; an ectopic expression suppressing tumor cell growth." 9606.ENSP00000310263,TNFRSF10D,386,Tumor necrosis factor receptor superfamily member 10D; Receptor for the cytotoxic ligand TRAIL. Contains a truncated death domain and hence is not capable of inducing apoptosis but protects against TRAIL-mediated apoptosis. Reports are contradictory with regards to its ability to induce the NF-kappa-B pathway. According to it cannot but according to it can induce the NF-kappa-B pathway. 9606.ENSP00000310301,SP3,781,"Transcription factor Sp3; Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications. Binds to GT and GC boxes promoter elements. Competes with SP1 for the GC-box promoters. Weak activator of transcription but can activate a number of genes involved in different processes such as cell-cycle regulation, hormone-induction and house-keeping." 9606.ENSP00000310303,TOPAZ1,1692,"Protein TOPAZ1; Important for normal spermatogenesis and male fertility. Specifically required for progression to the post-meiotic stages of spermatocyte development. Seems to be necessary for normal expression levels of a number of testis-expressed gene transcripts, although its role in this process is unclear." 9606.ENSP00000310305,P2RY2,377,P2Y purinoceptor 2; Receptor for ATP and UTP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP. 9606.ENSP00000310332,FBXO45,286,"F-box/SPRY domain-containing protein 1; Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation." 9606.ENSP00000310335,REP15,236,Rab15 effector protein; Regulates transferrin receptor recycling from the endocytic recycling compartment. 9606.ENSP00000310338,RESF1,1747,"Retroelement silencing factor 1; Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells." 9606.ENSP00000310356,RMI2,147,"RecQ-mediated genome instability protein 2; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM." 9606.ENSP00000310375,MLC1,377,Membrane protein MLC1; Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. 9606.ENSP00000310405,XCR1,333,Chemokine XC receptor 1; Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level. Receptor for XCL1/Lymphotactin. 9606.ENSP00000310406,RIN1,783,"Ras and Rab interactor 1; Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis. Belongs to the RIN (Ras interaction/interfe [...] " 9606.ENSP00000310431,LMAN1L,526,"Protein ERGIC-53-like; Lectin, mannose binding 1 like." 9606.ENSP00000310447,GLS2,602,"Glutaminase liver isoform, mitochondrial; Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha- ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation." 9606.ENSP00000310448,SART1,800,"U4/U6.U5 tri-snRNP-associated protein 1; Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA; Belongs to the SNU66/SART1 family." 9606.ENSP00000310459,AKIP1,210,A-kinase-interacting protein 1; Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. 9606.ENSP00000310472,ZNF624,865,Zinc finger protein 624; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000310490,SLC16A11,471,"Monocarboxylate transporter 11; Proton-linked monocarboxylate transporter. It catalyzes the transport of pyruvate across the plasma membrane. Probably involved in hepatic lipid metabolism: overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids." 9606.ENSP00000310491,ARHGAP1,439,"Rho GTPase-activating protein 1; GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate." 9606.ENSP00000310515,PRM1,51,"Sperm protamine P1; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex." 9606.ENSP00000310520,ERCC4,916,DNA repair endonuclease XPF; Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link; Belongs to the XPF family. 9606.ENSP00000310521,SEC22A,307,Vesicle-trafficking protein SEC22a; May be involved in vesicle transport between the ER and the Golgi complex. 9606.ENSP00000310547,ADCK5,580,"Uncharacterized aarF domain-containing protein kinase 5; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr)." 9606.ENSP00000310551,LCLAT1,414,"Lysocardiolipin acyltransferase 1; Exhibits acyl-CoA:lysocardiolipin acyltransferase (ALCAT) activity; catalyzes the reacylation of lyso-cardiolipin to cardiolipin (CL), a key step in CL remodeling (By similarity). Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors (By similarity). Also exhibits 1-acyl-sn-glycerol-3-phosphate acyltransferase activity (AGPAT) activity; converts 1-acyl-sn-glycerol- 3- phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn- glycerol-3- phosphate (phosphatidic acid [...] " 9606.ENSP00000310557,KCNE3,103,Potassium voltage-gated channel subfamily E member 3; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KC [...] 9606.ENSP00000310561,ARHGAP32,2087,"Rho GTPase-activating protein 32; GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity). Belongs to the PX domain-containing GAP family." 9606.ENSP00000310565,DSEL,1222,Dermatan-sulfate epimerase-like protein; Dermatan sulfate epimerase like; Belongs to the dermatan-sulfate isomerase family. 9606.ENSP00000310572,PSMC5,406,"26S proteasome regulatory subunit 8; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with [...] " 9606.ENSP00000310573,KRT25,450,"Keratin, type I cytoskeletal 25; Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization." 9606.ENSP00000310585,PCP2,136,Purkinje cell protein 2 homolog; May function as a cell-type specific modulator for G protein- mediated cell signaling. 9606.ENSP00000310593,MAP9,647,"Microtubule-associated protein 9; Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules." 9606.ENSP00000310594,FNDC9,224,Fibronectin type III domain containing 9. 9606.ENSP00000310596,LSM1,133,"U6 snRNA-associated Sm-like protein LSm1; Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated. Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation (By similarity). Belongs to the snRNP Sm proteins family." 9606.ENSP00000310620,SNX32,403,Sorting nexin-32; May be involved in several stages of intracellular trafficking. 9606.ENSP00000310622,APOBEC4,367,Putative C->U-editing enzyme APOBEC-4; Putative C to U editing enzyme whose physiological substrate is not yet known. 9606.ENSP00000310623,ISCU,167,"Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; Scaffold protein for the de novo synthesis of iron-sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins. First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. C [...] " 9606.ENSP00000310631,MRGPRD,321,"Mas-related G-protein coupled receptor member D; May regulate nociceptor function and/or development, including the sensation or modulation of pain. Functions as a specific membrane receptor for beta-alanine. Beta-alanine at micromolar doses specifically evoked Ca(2+) influx in cells expressing the receptor. Beta-alanine decreases forskolin-stimulated cAMP production in cells expressing the receptor, suggesting that the receptor couples with G- protein G(q) and G(i); Belongs to the G-protein coupled receptor 1 family. Mas subfamily." 9606.ENSP00000310632,OR8S1,359,Olfactory receptor 8S1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000310649,BRSK1,778,"Serine/threonine-protein kinase BRSK1; Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 [...] " 9606.ENSP00000310657,NDST2,883,"Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan." 9606.ENSP00000310658,SCUBE2,999,"Signal peptide, CUB and EGF-like domain-containing protein 2; Lipid-binding protein required for SHH long-range signaling by binding to the dually lipid-modified SHH (ShhNp) and by promoting ShhNp mobilization, solubilization and release from the cell membrane. Acts by enhancing the proteolytic processing (shedding) of the lipid-modified N- and C- terminal of ShhNp at the cell surface. Synergizes with DISP1 to increase SHH secretion. Probable cell surface coreceptor for VEGFR2 involved in VEGFR2-mediated angiogenesis." 9606.ENSP00000310661,PDE7B,450,"cAMP-specific 3',5'-cyclic phosphodiesterase 7B; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain." 9606.ENSP00000310668,NUP93,819,"Nuclear pore complex protein Nup93; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling." 9606.ENSP00000310670,CCAR2,923,"Cell cycle and apoptosis regulator protein 2; Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53- mediated apoptosis. Inhibits SUV39H1 methyltransferase activity. As part [...] " 9606.ENSP00000310688,ABCD2,740,ATP-binding cassette sub-family D member 2; Probable transporter; Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. 9606.ENSP00000310696,B4GALT2,401,"Beta-1,4-galactosyltransferase 2; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose; Belongs to the glycosyltransferase 7 family." 9606.ENSP00000310721,CYP7B1,506,"Cytochrome P450 7B1; A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position. Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3- hydroxy [...] " 9606.ENSP00000310722,MOS,346,"MOS proto-oncogene, serine/threonine kinase; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family." 9606.ENSP00000310723,DDX23,820,Probable ATP-dependent RNA helicase DDX23; Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation. 9606.ENSP00000310726,MRPL57,102,Mitochondrial ribosomal protein L57; Belongs to the mitochondrion-specific ribosomal protein mL63 family. 9606.ENSP00000310773,OR1L1,310,Olfactory receptor 1L1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000310788,OR5J2,312,Olfactory receptor 5J2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000310796,THAP2,228,THAP domain containing 2. 9606.ENSP00000310801,LKAAEAR1,240,Protein LKAAEAR1; LKAAEAR motif containing 1. 9606.ENSP00000310803,SFT2D3,215,Vesicle transport protein SFT2C; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family. 9606.ENSP00000310829,CFAP70,1121,Cilia and flagella associated protein 70; Belongs to the CFAP70 family. 9606.ENSP00000310832,CTSF,484,Cathepsin F; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis. 9606.ENSP00000310841,FBXO31,539,"F-box only protein 31; Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor; Belongs to the FBXO31 family." 9606.ENSP00000310842,FANCI,1328,Fanconi anemia group I protein; Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. 9606.ENSP00000310856,VN1R4,301,Vomeronasal type-1 receptor 4; Putative pheromone receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000310861,KRT2,639,"Keratin, type II cytoskeletal 2 epidermal; Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization. Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity)." 9606.ENSP00000310873,COQ2,421,"4-hydroxybenzoate polyprenyltransferase, mitochondrial; Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate." 9606.ENSP00000310880,MAL,153,Myelin and lymphocyte protein; Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function; Belongs to the MAL family. 9606.ENSP00000310901,CSRP2,193,"Cysteine and glycine-rich protein 2; Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system." 9606.ENSP00000310928,PPARD,441,"Peroxisome proliferator-activated receptor delta; Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma- linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand. Belongs to the nuclear hormone [...] " 9606.ENSP00000310933,MADD,1647,"MAP kinase-activating death domain protein; Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is res [...] " 9606.ENSP00000310978,PHYKPL,450,"5-phosphohydroxy-L-lysine phospho-lyase; Catalyzes the pyridoxal-phosphate-dependent breakdown of 5- phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde." 9606.ENSP00000310998,NAGPA,515,"N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase; Catalyzes the second step in the formation of the mannose 6- phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases." 9606.ENSP00000311005,MAPK7,816,"Mitogen-activated protein kinase 7; Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras-independent and MAP2K5-dependent pathway. May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/ER [...] " 9606.ENSP00000311010,ELF5,265,ETS-related transcription factor Elf-5; Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation. Belongs to the ETS family. 9606.ENSP00000311030,ABCC12,1359,Multidrug resistance-associated protein 9; Probable transporter. 9606.ENSP00000311032,CASP3,277,"Caspase-3 subunit p12; Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage." 9606.ENSP00000311035,CD200R1,348,"Cell surface glycoprotein CD200 receptor 1; Inhibitory receptor for the CD200/OX2 cell surface glycoprotein. Limits inflammation by inhibiting the expression of proinflammatory molecules including TNF-alpha, interferons, and inducible nitric oxide synthase (iNOS) in response to selected stimuli. Also binds to HHV-8 K14 viral CD200 homolog with identical affinity and kinetics as the host CD200." 9606.ENSP00000311038,OR6M1,313,Olfactory receptor 6M1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000311083,CKS1B,79,Cyclin-dependent kinases regulatory subunit 1; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. 9606.ENSP00000311095,CYP4A11,519,"Cytochrome P450 4A11; A cytochrome P450 monooxygenase involved in the metabolism of fatty acids and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of saturated and unsaturated fatty acids, the catalytic efficiency decreasing in the following order: dodecanoic > tetradecanoic > (9 [...] " 9606.ENSP00000311121,PSMA8,256,"Proteasome subunit alpha-type 8; Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a protein complexe that degrades unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Required for 20S core proteasome assembly, essential for the degradation of meiotic proteins RAD51 and RPA1 at late prophase I and the progression of meiosis I during spermatogenesis. Localizes [...] " 9606.ENSP00000311122,TMEM52,209,Transmembrane protein 52. 9606.ENSP00000311127,VEGFB,207,Vascular endothelial growth factor B; Growth factor for endothelial cells. VEGF-B167 binds heparin and neuropilin-1 whereas the binding to neuropilin-1 of VEGF-B186 is regulated by proteolysis. 9606.ENSP00000311135,DHX37,1157,Probable ATP-dependent RNA helicase DHX37; DEAH-box helicase 37. 9606.ENSP00000311165,AQP1,269,"Aquaporin-1; Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient." 9606.ENSP00000311183,ZNF497,498,Zinc finger protein 497; May be involved in transcriptional regulation. 9606.ENSP00000311184,WFIKKN2,576,"WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2; Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease- inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity); Belongs to the WFIKKN family." 9606.ENSP00000311196,NPAS4,802,"Neuronal PAS domain-containing protein 4; Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hyppocampus (By similarity). Plays a key role in the structural and functional plasticity of neurons (By similarity). Acts as an early-response transcription factor in both excitatory and inhibitory neurons, where it induces distinct but overlapping sets of late-response genes in these two types of neurons, allowing the synapses that form on inhibitory and excitatory neurons [...] " 9606.ENSP00000311218,C1orf100,147,Uncharacterized protein C1orf100; Chromosome 1 open reading frame 100. 9606.ENSP00000311219,TRIM59,403,Tripartite motif-containing protein 59; May serve as a multifunctional regulator for innate immune signaling pathways. 9606.ENSP00000311221,ZMAT3,289,Zinc finger matrin-type protein 3; Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus. 9606.ENSP00000311224,ACOT1,421,"Acyl-coenzyme A thioesterase 1; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating intracellular levels of acyl-CoAs, free fatty acids and CoASH. More active towards saturated and unsaturated long chain fatty acyl-CoAs (C12-C20); Belongs to the C/M/P thioester hydrolase family." 9606.ENSP00000311257,STOX2,926,Storkhead-box protein 2; Storkhead box 2. 9606.ENSP00000311273,DNAH7,4024,"Dynein heavy chain 7, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity)." 9606.ENSP00000311280,ELF4,663,"ETS-related transcription factor Elf-4; Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By simi [...] " 9606.ENSP00000311290,PROP1,226,"Homeobox protein prophet of Pit-1; Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes." 9606.ENSP00000311291,SLCO2A1,643,"Solute carrier organic anion transporter family member 2A1; May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A; Belongs to the organo anion transporter (TC 2.A.60) family." 9606.ENSP00000311300,CTSW,376,Cathepsin W; May have a specific function in the mechanism or regulation of T-cell cytolytic activity; Belongs to the peptidase C1 family. 9606.ENSP00000311313,CST6,149,Cystatin-M; Shows moderate inhibition of cathepsin B but is not active against cathepsin C; Belongs to the cystatin family. 9606.ENSP00000311318,ATG4D,474,"Cysteine protease ATG4D, mitochondrial; [Cysteine protease ATG4D]: Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C- terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms; Belongs to the peptidase C54 family." 9606.ENSP00000311319,ZNF417,575,Zinc finger protein 417; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000311336,ATP8B3,1300,Phospholipid-transporting ATPase IK; P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida; Belon [...] 9606.ENSP00000311343,WDR49,697,WD repeat domain 49. 9606.ENSP00000311344,PPP2R1B,667,Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform; The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. 9606.ENSP00000311360,RAD9A,391,Cell cycle checkpoint control protein RAD9A; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN [...] 9606.ENSP00000311364,MUCL1,90,Mucin-like protein 1; May play a role as marker for the diagnosis of metastatic breast cancer. 9606.ENSP00000311368,POLD4,107,"DNA polymerase delta subunit 4; As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity. Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system. Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BI [...] " 9606.ENSP00000311398,RNASE8,154,Ribonuclease 8; Has a low ribonuclease activity. 9606.ENSP00000311399,VPS26C,297,"Vacuolar protein sorting-associated protein 26C; Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes. In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of nu [...] " 9606.ENSP00000311401,DENND6A,608,"Protein DENND6A; Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes; Belongs to the DENND6 family." 9606.ENSP00000311405,ADCY6,1168,Adenylate cyclase type 6; Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors. Functions in signaling cascades downstream of beta- adrenergic receptors in the heart and in vascular smooth muscle cells. Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the [...] 9606.ENSP00000311427,SNX33,574,"Sorting nexin-33; Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2. Acts both during interphase and at the end of mitotic cell divisions. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Modulates endocytosis of cell-surface proteins, such as APP and PRNP; this then modulates the secretion of APP and PRNP peptides. Promotes membrane tubulation (in vitro). May promote the formation of macr [...] " 9606.ENSP00000311429,ZWILCH,591,"Protein zwilch homolog; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex. Belongs to the ZWILCH family." 9606.ENSP00000311430,RPL4,427,Ribosomal protein L4. 9606.ENSP00000311436,ABRA,381,Actin-binding Rho-activating protein; Acts as an activator of serum response factor (SRF)-dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling. 9606.ENSP00000311447,ASPHD1,390,Aspartate beta-hydroxylase domain containing 1. 9606.ENSP00000311449,RAB6A,208,Ras-related protein Rab-6A; Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER ; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000311469,GSTM1,218,Glutathione S-transferase Mu 1; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 9606.ENSP00000311477,OR10AG1,301,Olfactory receptor 10AG1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000311479,C11orf86,115,Uncharacterized protein C11orf86; Chromosome 11 open reading frame 86. 9606.ENSP00000311486,C12orf66,468,"KICSTOR complex protein C12orf66; As part of the KICSTOR complex functions in the amino acid- sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by [...] " 9606.ENSP00000311492,ISX,245,Intestine-specific homeobox; Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (By similarity). 9606.ENSP00000311500,MZT2A,158,Mitotic spindle organizing protein 2A; Belongs to the MOZART2 family. 9606.ENSP00000311502,HEG1,1381,Protein HEG homolog 1; Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions. 9606.ENSP00000311505,IQCB1,598,"IQ calmodulin-binding motif-containing protein 1; Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6." 9606.ENSP00000311513,RSF1,1441,"Remodeling and spacing factor 1; Required for assembly of regular nucleosome arrays by the RSF chromatin-remodeling complex. Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF-alpha induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain." 9606.ENSP00000311521,ZNF490,529,Zinc finger protein 490; May be involved in transcriptional regulation. 9606.ENSP00000311528,GPR162,588,Probable G-protein coupled receptor 162; Orphan receptor. 9606.ENSP00000311538,ARR3,388,Arrestin-C; May play a role in an as yet undefined retina-specific signal transduction. Could binds to photoactivated-phosphorylated red/green opsins. 9606.ENSP00000311545,ADGRE1,886,Adhesion G protein-coupled receptor E1; Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development. 9606.ENSP00000311579,TNKS,1327,"Poly [ADP-ribose] polymerase tankyrase-1; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly- ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Medi [...] " 9606.ENSP00000311605,OR4B1,309,Olfactory receptor 4B1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000311609,SPSB4,273,SPRY domain-containing SOCS box protein 4; Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2. Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5. Diminishes EphB2-dependent cell repulsive responses by medi [...] 9606.ENSP00000311648,UGT8,541,"2-hydroxyacylsphingosine 1-beta-galactosyltransferase; Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system; Belongs to the UDP-glycosyltransferase family." 9606.ENSP00000311657,GRAMD2A,354,"GRAM domain-containing protein 2A; Participates in the organization of endoplasmic reticulum- plasma membrane contact sites (EPCS) with pleiotropic functions including STIM1 recruitment and calcium homeostasis. Constitutive tether that co-localize with ESYT2/3 tethers at endoplasmic reticulum- plasma membrane contact sites in a phosphatidylinositol lipid-dependent manner. Pre-marks the subset of phosphtidylinositol 4,5-biphosphate (PI(4,5)P2)-enriched EPCS destined for the store operated calcium entry pathway (SOCE)." 9606.ENSP00000311677,PPP1R8,351,Nuclear inhibitor of protein phosphatase 1; Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre- mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation. 9606.ENSP00000311679,ZNF483,744,Zinc finger protein 483; May be involved in transcriptional regulation. 9606.ENSP00000311684,SPEG,3267,Striated muscle preferentially expressed protein kinase; Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. 9606.ENSP00000311687,NIPAL4,466,"Magnesium transporter NIPA4; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway." 9606.ENSP00000311695,CCDC85B,202,"Coiled-coil domain-containing protein 85B; Functions as a transcriptional repressor. May inhibit the activity of CTNNB1 in a TP53-dependent manner and thus regulate cell growth. May function in adipocyte differentiation, negatively regulating mitotic clonal expansion (By similarity). Plays a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (By similarity). ECO:0000250|UniProtKB:Q6PDY0." 9606.ENSP00000311697,FGF5,268,"Fibroblast growth factor 5; Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity); Belongs to the heparin-binding growth factors family." 9606.ENSP00000311712,RTP1,263,"Receptor-transporting protein 1; Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs; Belongs to the TMEM7 family." 9606.ENSP00000311713,OXSR1,527,"Serine/threonine-protein kinase OSR1; Phosphorylates RELL1, RELL2 and RELT. Phosphorylates PAK1. Phosphorylates PLSCR1 in the presence of RELT. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily." 9606.ENSP00000311746,KLK10,276,Kallikrein-10; Has a tumor-suppressor role for NES1 in breast and prostate cancer; Belongs to the peptidase S1 family. Kallikrein subfamily. 9606.ENSP00000311747,RBM14,669,"RNA-binding protein 14; Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1. Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) [...] " 9606.ENSP00000311760,TTC9B,239,Tetratricopeptide repeat domain 9B; Belongs to the TTC9 family. 9606.ENSP00000311778,ZMIZ2,920,Zinc finger MIZ domain-containing protein 2; Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors. 9606.ENSP00000311816,REST,1097,"RE1-silencing transcription factor; Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier (By similarity). Transcriptional repre [...] " 9606.ENSP00000311825,CTBP2,985,C-terminal-binding protein 2; Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity); Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. 9606.ENSP00000311827,MSL2,577,"E3 ubiquitin-protein ligase MSL2; Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at lysine 16 which is implicated in the formation of higher-order chromatin structure. Acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A. This activity is greatly enhanced by heterodimerization with MSL1. H2B ubiquitination in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1." 9606.ENSP00000311833,SLC37A2,505,Glucose-6-phosphate exchanger SLC37A2; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels. 9606.ENSP00000311837,SNTG2,539,Gamma-2-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity); Belongs to the syntrophin family. 9606.ENSP00000311857,PTPN2,415,"Tyrosine-protein phosphatase non-receptor type 2; Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the develop [...] " 9606.ENSP00000311862,MS4A10,267,Membrane-spanning 4-domains subfamily A member 10; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family. 9606.ENSP00000311899,DAW1,415,Dynein assembly factor with WDR repeat domains 1; May play a role in axonemal outer row dynein assembly. Belongs to the WD repeat WDR69 family. 9606.ENSP00000311905,LTBP4,1624,"Latent-transforming growth factor beta-binding protein 4; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta. Belongs to the LTBP family." 9606.ENSP00000311957,ZNF738,137,Protein ZNF738; May be involved in transcriptional regulation. 9606.ENSP00000311962,GGA2,613,ADP-ribosylation factor-binding protein GGA2; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif. Mediates export of the GPCR receptor ADRA2B to the cell surface. Regulates retrograde transport of phosphorylated form of BACE1 from endosomes to the trans- Golgi network. 9606.ENSP00000311977,DUS3L,650,"tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs; Belongs to the Dus family. Dus3 subfamily." 9606.ENSP00000311984,NAXD,390,"ATP-dependent (S)-NAD(P)H-hydrate dehydratase; Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. Belongs to the NnrD/CARKD family." 9606.ENSP00000311997,NEFH,1020,"Neurofilament heavy polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins." 9606.ENSP00000312002,HAVCR2,301,"Hepatitis A virus cellular receptor 2; Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand. Regulates macrophage activation. Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance. In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF-kappaB and NFAT promoter activities resulting in the loss [...] " 9606.ENSP00000312017,TLCD3A,257,TLC domain containing 3A. 9606.ENSP00000312021,FUT1,365,"Galactoside 2-alpha-L-fucosyltransferase 1; Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway." 9606.ENSP00000312027,CD7,240,T-cell antigen CD7; Not yet known. 9606.ENSP00000312066,SRP68,627,"Signal recognition particle subunit SRP68; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP68 binds the 7S RNA, SRP72 binds to this complex subsequently. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function." 9606.ENSP00000312070,PCDHGC3,934,Protocadherin gamma-C3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000312081,SSH3,659,"Protein phosphatase Slingshot homolog 3; Protein phosphatase which may play a role in the regulation of actin filament dynamics. Can dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly (By similarity)." 9606.ENSP00000312082,TLR8,1059,"Toll-like receptor 8; Key component of innate and adaptive immunity. TLRs (Toll- like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response." 9606.ENSP00000312107,UBXN2A,259,UBX domain protein 2A. 9606.ENSP00000312126,ADCY4,1077,Adenylate cyclase type 4; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. 9606.ENSP00000312129,KCNG4,519,Potassium voltage-gated channel subfamily G member 4; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1. Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.4/KCNG4 sub-subfamily. 9606.ENSP00000312134,PRG2,222,"Eosinophil granule major basic protein; Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA." 9606.ENSP00000312143,TNS3,1445,Tensin-3; May play a role in actin remodeling. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1. Seems to be involved in mammary cell migration. May be involved in cell migration and bone development (By similarity); Belongs to the PTEN phosphatase protein family. 9606.ENSP00000312150,TRIB1,372,"Tribbles homolog 1; Adapter protein involved in protein degradation by interacting with COP1 ubiquitin ligase. The COP1- binding motif is masked by autoinhibitory interactions with the protein kinase domain. Serves to alter COP1 substrate specificity by directing the activity of COP1 toward CEBPA. Binds selectively the recognition sequence of CEBPA. Regulates myeloid cell differentiation by altering the expression of CEBPA in a COP1-dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Interacts wit [...] " 9606.ENSP00000312158,BTN2A1,527,Butyrophilin subfamily 2 member A1. 9606.ENSP00000312185,ELMO1,727,Engulfment and cell motility protein 1; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. 9606.ENSP00000312222,ZHX3,956,Zinc fingers and homeoboxes protein 3; Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA. 9606.ENSP00000312224,DTD2,168,"D-aminoacyl-tRNA deacylase 2; Deacylates mischarged D-aminoacyl-tRNAs (By similarity). Also deacylates mischarged glycyl-tRNA(Ala), protecting cells against glycine mischarging by AlaRS (By similarity). Probably acts by rejecting L-amino acids from its binding site rather than specific recognition of D-amino acids (By similarity). Catalyzes the hydrolysis of D-tyrosyl-tRNA(Tyr), has no activity on correctly charged L-tyrosyl- tRNA(Tyr) (By similarity). By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the format [...] " 9606.ENSP00000312244,MSL3,521,Male-specific lethal 3 homolog; Has a role in chromatin remodeling and transcriptional regulation. Has a role in X inactivation. Component of the MSL complex which is responsible for the majority of histone H4 acetylation at 'Lys-16' which is implicated in the formation of higher-order chromatin structure. Specifically recognizes histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex. 9606.ENSP00000312250,ADPGK,496,"ADP-dependent glucokinase; Catalyzes the phosphorylation of D-glucose to D-glucose 6- phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity)." 9606.ENSP00000312262,GRK2,689,"Beta-adrenergic receptor kinase 1; Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them. Key regulator of LPAR1 signaling. Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor. Desensitizes LPAR1 and LPAR2 in a phosphorylation- independent manner. Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity (By similarity). Belong [...] " 9606.ENSP00000312272,YPEL2,119,Protein yippee-like 2; Yippee like 2. 9606.ENSP00000312273,LGI4,537,Leucine-rich repeat LGI family member 4; Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity). 9606.ENSP00000312284,SPESP1,350,Sperm equatorial segment protein 1; Involved in fertilization ability of sperm. Belongs to the SPESP1 family. 9606.ENSP00000312286,PLA2G1B,148,"Phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides, this releases glycerophospholipids and arachidonic acid that serve as the precursors of signal molecules. Belongs to the phospholipase A2 family." 9606.ENSP00000312293,MOBP,206,"Myelin-associated oligodendrocyte basic protein; May play a role in compacting or stabilizing the myelin sheath, possibly by binding the negatively charged acidic phospholipids of the cytoplasmic membrane." 9606.ENSP00000312299,FRG2C,282,Protein FRG2-like-2; FSHD region gene 2 family member C. 9606.ENSP00000312304,TPMT,245,"Thiopurine S-methyltransferase; Catalyzes the S-methylation of thiopurine drugs such as 6- mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) and 6-thioguanine (also called tioguanine or 6-TG) using S- adenosyl-L-methionine as the methyl donor. TPMT activity modulates the cytotoxic effects of thiopurine prodrugs. A natural substrate for this enzyme has yet to be identified; Belongs to the class I-like SAM-binding methyltransferase superfamily. TPMT family." 9606.ENSP00000312311,MRPL46,279,Mitochondrial ribosomal protein L46; Belongs to the mitochondrion-specific ribosomal protein mL46 family. 9606.ENSP00000312318,ZNRD2,199,Protein ZNRD2; Might play a role in mitosis. Antigenic molecule. Could be a centromere-associated protein. May induce anti-centromere antibodies. 9606.ENSP00000312326,AOC3,763,Membrane primary amine oxidase; Cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin- independent fashion. Has semicarbazide-sensitive (SSAO) monoamine oxidase activity. May play a role in adipogenesis. 9606.ENSP00000312356,TRMT10C,403,"tRNA methyltransferase 10 homolog C; Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation. Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends. Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity. The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 a [...] " 9606.ENSP00000312367,CD84,345,"SLAM family member 5; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B (By similarity). Increa [...] " 9606.ENSP00000312368,SNX31,440,Sorting nexin-31; May be involved in protein trafficking. Belongs to the sorting nexin family. 9606.ENSP00000312379,KMT2E,1858,"Inactive histone-lysine N-methyltransferase 2E; Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription. Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery [...] " 9606.ENSP00000312385,EVX2,476,Even-skipped homeobox 2; Belongs to the even-skipped homeobox family. 9606.ENSP00000312397,KLHL3,587,"Kelch-like protein 3; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation. The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight- junction protein required for paracellular chloride transport in the kidney (By similarity)." 9606.ENSP00000312399,CCDC63,563,Coiled-coil domain-containing protein 63; Plays a role in spermiogenesis. Involved in the elongation of flagella and the formation of sperm heads. 9606.ENSP00000312403,OR2Y1,311,Olfactory receptor 2Y1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000312411,PPM1E,755,Protein phosphatase 1E; Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity); Belongs to the PP2C family. 9606.ENSP00000312415,SSX5,229,Protein SSX5; Could act as a modulator of transcription. 9606.ENSP00000312439,RNF26,433,"E3 ubiquitin-protein ligase RNF26; E3 ubiquitin-protein ligase that plays a key role in endosome organization by retaining vesicles in the perinuclear cloud. Acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1. Ubiquitinated SQSTM1 attracts specific vesicle- associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport. Also acts as a regulator of type I interferon production in response to viral infection by mediating th [...] " 9606.ENSP00000312442,AP1G2,785,AP-1 complex subunit gamma-like 2; May function in protein sorting in late endosomes or multivesucular bodies (MVBs). 9606.ENSP00000312455,CFLAR,480,CASP8 and FADD-like apoptosis regulator subunit p12; Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity. Belongs to the peptidase C1 [...] 9606.ENSP00000312457,BAALC,145,BAALC binder of MAP3K1 and KLF4. 9606.ENSP00000312458,ARV1,271,Protein ARV1; Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis. Participates in sterol transport out of the ER and distribution into plasma membranes. Belongs to the ARV1 family. 9606.ENSP00000312506,CSPG4,2322,"Chondroitin sulfate proteoglycan 4; Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma ce [...] " 9606.ENSP00000312535,LRFN4,635,Leucine-rich repeat and fibronectin type-III domain-containing protein 4; Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery (By similarity). Belongs to the LRFN family. 9606.ENSP00000312554,DNAH12,457,"Dynein heavy chain 12, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity)." 9606.ENSP00000312587,COQ10A,247,"Coenzyme Q-binding protein COQ10 homolog A, mitochondrial; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (Probable); Belongs to the COQ10 family." 9606.ENSP00000312599,TMEM70,260,"Transmembrane protein 70, mitochondrial; Involved in biogenesis of mitochondrial ATP synthase. Belongs to the TMEM70 family." 9606.ENSP00000312615,TMEM134,195,Transmembrane protein 134. 9606.ENSP00000312617,NFYC,458,"Nuclear transcription factor Y subunit gamma; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors." 9606.ENSP00000312618,ACAD9,621,"Complex I assembly factor ACAD9, mitochondrial; As part of the MCIA complex, primarily participates to the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation. This moonlighting protein has also a dehydrogenase activity toward a broad range of substrates with greater specificity for long-chain unsaturated acyl-CoAs. However, in vivo, it does not seem to play a primary role in fatty acid oxidation. In addition, the function in complex I assembly is independent of the dehydrogenase activity of the protein." 9606.ENSP00000312624,TCAP,167,Telethonin; Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk. 9606.ENSP00000312631,INSM1,510,Insulinoma-associated protein 1; Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle- independent manner. Negatively regulates skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses ta [...] 9606.ENSP00000312634,PDLIM2,602,PDZ and LIM domain protein 2; Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. Overexpression enhances cell adhesion to collagen and fibronectin and suppresses anchorage independent growth. May contribute to tumor cell migratory capacity. 9606.ENSP00000312649,PPARGC1B,1023,"Peroxisome proliferator-activated receptor gamma coactivator 1-beta; Plays a role of stimulator of transcription factors and nuclear receptors activities. Activates transcriptional activity of estrogen receptor alpha, nuclear respiratory factor 1 (NRF1) and glucocorticoid receptor in the presence of glucocorticoids. May play a role in constitutive non-adrenergic-mediated mitochondrial biogenesis as suggested by increased basal oxygen consumption and mitochondrial number when overexpressed. May be involved in fat oxidation and non- oxidative glucose metabolism and in the regulation of e [...] " 9606.ENSP00000312652,LEP,167,"Leptin; Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways. In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo- pituitary-adrenal hormones. In the periphery, increases basal me [...] " 9606.ENSP00000312663,CHRNA9,479,"Neuronal acetylcholine receptor subunit alpha-9; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding induces a conformation change that leads to the opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This ma [...] " 9606.ENSP00000312664,CASP2,452,"Caspase-2 subunit p12; Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival. Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress." 9606.ENSP00000312671,EHBP1L1,1523,EH domain-binding protein 1-like protein 1; May act as Rab effector protein and play a role in vesicle trafficking. 9606.ENSP00000312672,TLCD5,267,TLC domain containing 5; Belongs to the TLCD5 family. 9606.ENSP00000312673,GH1,217,Somatotropin; Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues. 9606.ENSP00000312675,TRIM72,477,"Tripartite motif-containing protein 72; Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)- depen [...] " 9606.ENSP00000312700,B3GNT8,397,"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8; Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N- glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans." 9606.ENSP00000312702,DEFB114,69,"Beta-defensin 114; Has a salt-sensitive antimicrobial activity against Gram- negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality." 9606.ENSP00000312706,CCDC65,484,"Dynein regulatory complex subunit 2; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules. Belongs to the DRC2 family." 9606.ENSP00000312709,TAF7,349,"Transcription initiation factor TFIID subunit 7; Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively); Belongs to the TAF7 family." 9606.ENSP00000312734,RAB8B,207,"Ras-related protein Rab-8B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity)." 9606.ENSP00000312741,CAMKK2,588,"Calcium/calmodulin-dependent protein kinase kinase 2; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin-binding domain are inactive. Efficiently phosphorylates 5'-AMP-activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals ( [...] " 9606.ENSP00000312753,PHETA2,259,"Sesquipedalian-2; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane; Belongs to the sesquipedalian family." 9606.ENSP00000312767,CEP295NL,621,CEP295 N-terminal-like protein; CEP295 N-terminal like. 9606.ENSP00000312770,C2orf69,385,UPF0565 protein C2orf69; Chromosome 2 open reading frame 69. 9606.ENSP00000312774,SPACA4,124,Sperm acrosome membrane-associated protein 4; Sperm surface membrane protein that may be involved in sperm- egg plasma membrane adhesion and fusion during fertilization. 9606.ENSP00000312778,IFT80,777,"Intraflagellar transport protein 80 homolog; Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia." 9606.ENSP00000312811,KCNK10,543,Potassium channel subfamily K member 10; Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. 9606.ENSP00000312814,KCTD2,263,BTB/POZ domain-containing protein KCTD2; Potassium channel tetramerization domain containing 2. 9606.ENSP00000312834,MLXIP,919,MLX-interacting protein; Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation. 9606.ENSP00000312942,SEZ6,994,Seizure protein 6 homolog; May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity). Belongs to the SEZ6 family. 9606.ENSP00000312946,STAB1,2570,"Stabilin-1; Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system." 9606.ENSP00000312981,USP39,565,"U4/U6.U5 tri-snRNP-associated protein 2; Plays a role in pre-mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the precatalytic spliceosome. Regulates AURKB mRNA levels, and thereby plays a role in cytokinesis and in the spindle checkpoint. Does not have ubiquitin-specific peptidase activity." 9606.ENSP00000312987,HNF4A,474,"Hepatocyte nuclear factor 4-alpha; Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes. Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK- ARNTL/BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells." 9606.ENSP00000312988,NFKBIB,356,"NF-kappa-B inhibitor beta; Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. However, the unphosphorylated form resynthesized after cell stimulation is able to bind NF-kappa-B allowing its transport to the nucleus and protecting it to further NFKBIA-dependent inactivation. Association with inhibitor kappa B-interacting NKIRAS1 and NKIRAS2 prevent its phosphorylation rendering it more resistant to degradation, explaining its slower degradation." 9606.ENSP00000312995,CLSPN,1339,Claspin; Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks. 9606.ENSP00000312999,GNAI2,355,Guanine nucleotide-binding protein G(i) subunit alpha-2; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta- adrenergic stimuli. May play a role in cell division. 9606.ENSP00000313007,PABPC1,636,"Polyadenylate-binding protein 1; Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region deter [...] " 9606.ENSP00000313034,FBXW5,566,"F-box/WD repeat-containing protein 5; Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes req [...] " 9606.ENSP00000313050,NIPSNAP2,286,Protein NipSnap homolog 2; May act as a positive regulator of L-type calcium channels. Belongs to the NipSnap family. 9606.ENSP00000313079,SHISA2,295,Protein shisa-2 homolog; Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling. Belongs to the shisa family. 9606.ENSP00000313088,NETO1,533,"Neuropilin and tolloid-like protein 1; Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A- containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity)." 9606.ENSP00000313110,OR6S1,331,Olfactory receptor 6S1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000313121,SNX14,946,"Sorting nexin-14; Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes. Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P))." 9606.ENSP00000313140,EXD2,621,"Exonuclease 3'-5' domain-containing protein 2; Exonuclease that has both 3'-5' exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor. In presence of Mg(2+), only shows 3'-5' exoribonuclease activity, while it shows both exoribonuclease and exodeoxyribonuclease activities in presence of Mn(2+). Acts as an exoribonuclease in mitochondrion, possibly by regulating ATP production and mitochondrial translation. Also involved in the response to DNA damage. Acts as 3'- 5' exodeoxyribonuclease for double-strand breaks resection and efficien [...] " 9606.ENSP00000313158,ZNF366,744,Zinc finger protein 366; Has transcriptional repression activity. Acts as corepressor of ESR1; the function seems to involve CTBP1 and histone deacetylases. 9606.ENSP00000313159,FBXO34,711,F-box only protein 34; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000313169,NPHP1,733,"Nephrocystin-1; Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina dev [...] " 9606.ENSP00000313171,ATAD5,1844,"ATPase family AAA domain-containing protein 5; Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis." 9606.ENSP00000313172,BVES,360,Blood vessel epicardial substance; Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells. Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epitheli [...] 9606.ENSP00000313199,HNRNPD,355,Heterogeneous nuclear ribonucleoprotein D0; Binds with high affinity to RNA molecules that contain AU- rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Also binds to double- and single-stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5'-UUAG-3' sequence and also weaker to the single-stranded 5'-TTAGGG-3' telomeric DNA repeat. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-st [...] 9606.ENSP00000313226,CTXN1,82,Cortexin-1; May mediate extracellular or intracellular signaling of cortical neurons during forebrain development; Belongs to the cortexin family. 9606.ENSP00000313243,HSF5,596,Heat shock factor protein 5; May act as a transcriptional factor. 9606.ENSP00000313309,FUZ,418,Protein fuzzy homolog; Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity). 9606.ENSP00000313318,SLC35C1,364,GDP-fucose transporter 1; Involved in GDP-fucose import from the cytoplasm into the Golgi lumen; Belongs to the TPT transporter family. SLC35C subfamily. 9606.ENSP00000313324,C3orf80,247,Uncharacterized membrane protein C3orf80; Chromosome 3 open reading frame 80. 9606.ENSP00000313350,RNASEH1,286,Ribonuclease H1; Endonuclease that specifically degrades the RNA of RNA-DNA hybrids. Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II ; Belongs to the RNase H family. 9606.ENSP00000313377,PANK2,570,"Pantothenate kinase 2, mitochondrial; May be the master regulator of the CoA biosynthesis. Belongs to the type II pantothenate kinase family." 9606.ENSP00000313384,OR1E1,314,Olfactory receptor 1E1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000313391,DAB2,770,"Disabled homolog 2; Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 [...] " 9606.ENSP00000313419,CD19,557,B-lymphocyte antigen CD19; Functions as coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes. Decreases the threshold for activation of downstream signaling pathways and for triggering B-cell responses to antigens. Activates signaling pathways that lead to the activation of phosphatidylinositol 3-kinase and the mobilization of intracellular Ca(2+) stores. Is not required for early steps during B cell differentiation in the blood marrow. Required for normal differentiation of B-1 cells (By similarity). Required for normal B cell differentiation and proliferation in [...] 9606.ENSP00000313420,PRKDC,4128,DNA-dependent protein kinase catalytic subunit; Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act [...] 9606.ENSP00000313422,ARL6IP4,421,"ADP-ribosylation factor-like protein 6-interacting protein 4; Involved in modulating alternative pre-mRNA splicing with either 5' distal site activation or preferential use of 3' proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA." 9606.ENSP00000313423,GFRA4,299,"GDNF family receptor alpha-4; Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla." 9606.ENSP00000313432,GRHPR,328,"Glyoxylate reductase/hydroxypyruvate reductase; Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D- glycerate to hydroxypyruvate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family." 9606.ENSP00000313437,MMP19,508,"Matrix metalloproteinase-19; Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin." 9606.ENSP00000313443,ZNF491,437,Zinc finger protein 491; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000313454,UBA6,1052,"Ubiquitin-like modifier-activating enzyme 6; Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis [...] " 9606.ENSP00000313490,PFAS,1338,Phosphoribosylformylglycinamidine synthase; Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity); In the N-terminal section; belongs to the FGAMS family. 9606.ENSP00000313500,HROB,647,Uncharacterized protein C17orf53; Homologous recombination factor with OB-fold. 9606.ENSP00000313504,PHKB,1093,"Phosphorylase b kinase regulatory subunit beta; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation." 9606.ENSP00000313571,LGALS7B,136,Galectin-7; Could be involved in cell-cell and/or cell-matrix interactions necessary for normal growth control. Pro-apoptotic protein that functions intracellularly upstream of JNK activation and cytochrome c release. 9606.ENSP00000313581,KLK2,261,Kallikrein-2; Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin; Belongs to the peptidase S1 family. Kallikrein subfamily. 9606.ENSP00000313582,ZNF436,470,Zinc finger protein 436; May be a transcriptional repressor. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000313600,ATP10B,1461,Probable phospholipid-transporting ATPase VB; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. 9606.ENSP00000313601,CC2D1A,951,Coiled-coil and C2 domain-containing protein 1A; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When c [...] 9606.ENSP00000313603,ABCF1,845,ATP-binding cassette sub-family F member 1; Isoform 2 is required for efficient Cap- and IRES-mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis. 9606.ENSP00000313670,ALS2CL,953,ALS2 C-terminal-like protein; Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics. 9606.ENSP00000313681,SPHK1,470,"Sphingosine kinase 1; Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo- dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol. In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis. Involved in the regulation of inflammatory response and neuroinflammation. Via [...] " 9606.ENSP00000313691,FTMT,242,"Ferritin, mitochondrial; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation." 9606.ENSP00000313699,HEPHL1,1159,Ferroxidase HEPHL1; Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe(2+) to Fe(3+) without releasing radical oxygen species. May be involved in the regulation of intracellular iron content. 9606.ENSP00000313752,SSNA1,119,SS nuclear autoantigen 1. 9606.ENSP00000313803,OR3A1,315,Olfactory receptor 3A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000313809,AMBN,447,Ameloblastin; Involved in the mineralization and structural organization of enamel; Belongs to the ameloblastin family. 9606.ENSP00000313811,USP20,914,"Ubiquitin carboxyl-terminal hydrolase 20; Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins de [...] " 9606.ENSP00000313829,KHDRBS1,443,"KH domain-containing, RNA-binding, signal transduction-associated protein 1; Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates [...] " 9606.ENSP00000313833,LCN15,184,Lipocalin-15; Lipocalin 15. 9606.ENSP00000313851,PDS5B,1447,Sister chromatid cohesion protein PDS5 homolog B; Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells. 9606.ENSP00000313854,CLPTM1L,538,"Cleft lip and palate transmembrane protein 1-like protein; Enhances cisplatin-mediated apoptosis, when overexpressed. Belongs to the CLPTM1 family." 9606.ENSP00000313869,GORASP1,440,"Golgi reassembly-stacking protein 1; Plays an important role in assembly and membrane stacking of the Golgi cisternae, and in the reassembly of Golgi stacks after breakdown during mitosis. Key structural protein required for the maintenance of the Golgi apparatus integrity: its caspase-mediated cleavage is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes. Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylate [...] " 9606.ENSP00000313875,CD46,399,"Membrane cofactor protein; Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. (Microbial infection) Acts as a receptor for Adenovirus [...] " 9606.ENSP00000313877,TSFM,346,"Elongation factor Ts, mitochondrial; Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. Belongs to the EF-Ts family." 9606.ENSP00000313881,MKRN3,507,Probable E3 ubiquitin-protein ligase makorin-3; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. 9606.ENSP00000313921,MSRA,235,Mitochondrial peptide methionine sulfoxide reductase; Has an important function as a repair enzyme for proteins that have been inactivated by oxidation. Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine. 9606.ENSP00000313933,BICRAL,1079,"BRD4-interacting chromatin-remodeling complex-associated protein-like; Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP- dependent manner." 9606.ENSP00000313936,OR2AE1,323,Olfactory receptor 2AE1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000313950,AURKB,345,"Aurora kinase B; Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of [...] " 9606.ENSP00000313953,TTC27,843,Tetratricopeptide repeat domain 27. 9606.ENSP00000313967,C1QB,253,"Complement C1q subcomponent subunit B; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes." 9606.ENSP00000313983,NSD3,1437,"Histone-lysine N-methyltransferase NSD3; Histone methyltransferase. Preferentially dimethylates 'Lys- 4' and 'Lys-27' of histone H3 forming H3K2me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily." 9606.ENSP00000313995,KLHDC3,382,Kelch domain-containing protein 3; May be involved in meiotic recombination process. 9606.ENSP00000314004,ANAPC2,822,"Anaphase-promoting complex subunit 2; Together with the RING-H2 protein ANAPC11, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. The CDC20-APC/C complex positively re [...] " 9606.ENSP00000314023,SIDT2,832,"SID1 transmembrane family member 2; Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP- dependent manner, and degraded. Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward R [...] " 9606.ENSP00000314029,SENP3,574,"Sentrin-specific protease 3; Protease that releases SUMO2 and SUMO3 monomers from sumoylated substrates, but has only weak activity against SUMO1 conjugates. Deconjugates SUMO2 from MEF2D, which increases its transcriptional activation capability. Deconjugates SUMO2 and SUMO3 from CDCA8. Redox sensor that, when redistributed into nucleoplasm, can act as an effector to enhance HIF1A transcriptional activity by desumoylating EP300. Required for rRNA processing through deconjugation of SUMO2 and SUMO3 from nucleophosmin, NPM1. Plays a role in the regulation of sumoylation status of ZNF148 [...] " 9606.ENSP00000314030,DNAJA2,412,DnaJ homolog subfamily A member 2; Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro). 9606.ENSP00000314036,AGPAT4,378,"1-acyl-sn-glycerol-3-phosphate acyltransferase delta; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Exhibits high acyl-CoA specificity for polyunsaturated fatty acyl-CoA, especially docosahexaenoyl-CoA (22:6-CoA, DHA-CoA) (By similarity)." 9606.ENSP00000314042,MRGPRX4,322,"Mas-related G-protein coupled receptor member X4; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity)." 9606.ENSP00000314067,PAK2,524,"Serine/threonine-protein kinase PAK 2; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Full-length PAK2 stimulates cell survival and cell growth. Phosphorylates MAPK4 and MAPK6 and activates the downstream targ [...] " 9606.ENSP00000314080,HIC1,733,"Hypermethylated in cancer 1 protein; Transcriptional repressor. Recognizes and binds to the consensus sequence '5-[CG]NG[CG]GGGCA[CA]CC-3'. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In c [...] " 9606.ENSP00000314099,CA5B,317,"Carbonic anhydrase 5B, mitochondrial; Reversible hydration of carbon dioxide; Belongs to the alpha-carbonic anhydrase family." 9606.ENSP00000314116,TMEM107,146,Transmembrane protein 107; Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins. 9606.ENSP00000314129,TFE3,575,"Transcription factor E3; Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3') (By similarity). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (By similarity). In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also bin [...] " 9606.ENSP00000314132,BOK,212,Bcl-2-related ovarian killer protein; [Isoform 1]: Apoptosis regulator that functions through different apoptotic signaling pathways. Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner. In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival-promoting BCL2 an [...] 9606.ENSP00000314151,KLK3,261,Prostate-specific antigen; Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum. 9606.ENSP00000314157,SNAP47,464,Synaptosomal-associated protein 47; Plays a role in intracellular membrane fusion. 9606.ENSP00000314173,SAMD12,201,Sterile alpha motif domain containing 12. 9606.ENSP00000314193,WDR75,830,WD repeat-containing protein 75; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. 9606.ENSP00000314196,MBOAT4,435,"Ghrelin O-acyltransferase; Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid; Belongs to the membrane-bound acyltransferase family." 9606.ENSP00000314223,GPR88,384,"Probable G-protein coupled receptor 88; Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function." 9606.ENSP00000314295,EEF1AKMT4,255,EEF1A lysine methyltransferase 4; Protein-lysine methyltransferase that efficiently catalyzes three successive methylations on 'Lys-36' in eukaryotic translation elongation factor 1 alpha (EEF1A1 or EEF1A2). 9606.ENSP00000314299,CFHR1,330,Complement factor H-related protein 1; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism. 9606.ENSP00000314324,OR10Q1,319,Olfactory receptor 10Q1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000314348,DDX10,875,Probable ATP-dependent RNA helicase DDX10; Putative ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DDX10/DBP4 subfamily. 9606.ENSP00000314380,GRINA,371,Protein lifeguard 1; Potential apoptotic regulator; Belongs to the BI1 family. LFG subfamily. 9606.ENSP00000314396,PRMT9,845,Protein arginine N-methyltransferase 9; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA. Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. 9606.ENSP00000314407,CA8,290,Carbonic anhydrase-related protein; Does not have a carbonic anhydrase catalytic activity. 9606.ENSP00000314420,PER1,1290,"Period circadian protein homolog 1; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardi [...] " 9606.ENSP00000314441,METTL1,276,"tRNA (guanine-N(7)-)-methyltransferase; Methyltransferase that mediates the formation of N(7)- methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs. Internal N(7)-methylguanine methylation of mRNAs regulates translation. Also methylates a specific subset of miRNAs, such as let-7. N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory seconda [...] " 9606.ENSP00000314444,WDR35,1181,"WD repeat-containing protein 35; As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking. May promote CASP3 activation and TNF-stimulated apoptosis." 9606.ENSP00000314480,UNCX,531,"Homeobox protein unc-4 homolog; Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (By similarity); Belongs to the paired homeobox family. Unc-4 subfamily." 9606.ENSP00000314484,MEIOB,471,"Meiosis-specific with OB domain-containing protein; Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3'-5' exonuclease activity i [...] " 9606.ENSP00000314499,GAK,1311,"Cyclin-G-associated kinase; Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1." 9606.ENSP00000314500,GALNT14,557,"Polypeptide N-acetylgalactosaminyltransferase 14; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000314505,MCM9,1143,"DNA helicase MCM9; Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross- links (ICLs) by homologous recombination (HR). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity. Probably by regulating the localization of the MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs. Acts as a helicase in DNA mismatch repair (MMR) followin [...] " 9606.ENSP00000314508,GBA,536,"Lysosomal acid glucosylceramidase; Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. [...] " 9606.ENSP00000314518,LYSMD3,306,LysM and putative peptidoglycan-binding domain-containing protein 3; Essential for Golgi structural integrity. 9606.ENSP00000314543,MAGEB18,343,Melanoma-associated antigen B18; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. 9606.ENSP00000314544,CCZ1B,482,"CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated." 9606.ENSP00000314556,UACA,1416,"Uveal autoantigen with coiled-coil domains and ankyrin repeats; Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity)." 9606.ENSP00000314560,MAP6D1,199,MAP6 domain-containing protein 1; May have microtubule-stabilizing activity; Belongs to the STOP family. 9606.ENSP00000314606,SGSH,502,N-sulphoglucosamine sulphohydrolase; Catalyzes a step in lysosomal heparan sulfate degradation. Belongs to the sulfatase family. 9606.ENSP00000314608,KLHL11,708,"Kelch-like protein 11; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation." 9606.ENSP00000314615,ARFGAP1,414,"ADP-ribosylation factor GTPase-activating protein 1; GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, a [...] " 9606.ENSP00000314619,ZFAND2A,145,Zinc finger AN1-type containing 2A. 9606.ENSP00000314649,ALDH5A1,548,"Succinate-semialdehyde dehydrogenase, mitochondrial; Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)." 9606.ENSP00000314709,ZHX2,837,"Zinc fingers and homeoboxes protein 2; Acts as a transcriptional repressor. Represses the promoter activity of the CDC25C gene stimulated by NFYA. May play a role in retinal development where it regulates the composition of bipolar cell populations, by promoting differentiation of bipolar OFF-type cells (By similarity). In the brain, may promote maintenance and suppress differentiation of neural progenitor cells in the developing cortex (By similarity)." 9606.ENSP00000314724,PPFIBP1,1011,Liprin-beta-1; May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. Belongs to the liprin family. Liprin-beta subfamily. 9606.ENSP00000314733,TOLLIP,274,Toll-interacting protein; Component of the signaling pathway of IL-1 and Toll-like receptors. Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex. Inhibits IRAK1 phosphorylation and kinase activity. Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates. The TOLLIP- dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates. 9606.ENSP00000314776,MBLAC2,279,Metallo-beta-lactamase domain containing 2; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. 9606.ENSP00000314792,BOLL,295,"Protein boule-like; Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation (By similarity); Belongs to the RRM DAZ family." 9606.ENSP00000314806,FOXR1,292,Forkhead box R1. 9606.ENSP00000314807,IL1RAP,687,"Interleukin-1 receptor accessory protein; Coreceptor for IL1RL2 in the IL-36 signaling system (By similarity). Coreceptor with IL1R1 in the IL-1 signaling system. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; bindin [...] " 9606.ENSP00000314810,EDDM3B,147,Epididymal secretory protein E3-beta; Possible function in sperm maturation. 9606.ENSP00000314879,ALOXE3,843,"Hydroperoxide isomerase ALOXE3; Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty [...] " 9606.ENSP00000314897,ANGPT2,496,"Angiopoietin-2; Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal." 9606.ENSP00000314901,LRRN1,716,Leucine rich repeat neuronal 1. 9606.ENSP00000314946,RPRM,109,Protein reprimo; May be involved in the regulation of p53-dependent G2 arrest of the cell cycle. Seems to induce cell cycle arrest by inhibiting CDK1 activity and nuclear translocation of the CDC2 cyclin B1 complex (By similarity). 9606.ENSP00000314976,IL20RA,553,"Interleukin-20 receptor subunit alpha; The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26." 9606.ENSP00000314992,RRH,337,Visual pigment-like receptor peropsin; May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds. 9606.ENSP00000315006,SLC28A2,658,Sodium/nucleoside cotransporter 2; Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues; Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. 9606.ENSP00000315011,EDNRA,427,Endothelin-1 receptor; Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3. 9606.ENSP00000315013,CRAT,626,Carnitine O-acetyltransferase; Catalyzes the reversible transfer of acyl groups from carnitine to coenzyme A (CoA) and regulates the acyl-CoA/CoA ratio. Also plays a crucial role in the transport of fatty acids for beta- oxidation. May be specific for short chain fatty acids. 9606.ENSP00000315017,MRPL1,325,Mitochondrial ribosomal protein L1. 9606.ENSP00000315035,PPP1R42,228,Protein phosphatase 1 regulatory subunit 42; Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis. 9606.ENSP00000315064,MAGEF1,307,"Melanoma-associated antigen F1; Enhances ubiquitin ligase activity of RING-type zinc finger- containing E3 ubiquitin ligases. Proposed to act through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. MAGEF1-NSMCE1 ubiquitin ligase complex promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors. [...] " 9606.ENSP00000315070,GJD4,370,"Gap junction delta-4 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Delta-type subfamily." 9606.ENSP00000315081,LSMEM2,164,Leucine rich single-pass membrane protein 2. 9606.ENSP00000315098,EDDM3A,147,Epididymal secretory protein E3-alpha; Possible function in sperm maturation. 9606.ENSP00000315106,GPR137C,429,Integral membrane protein GPR137C; Lysosomal integral membrane protein that may regulate MTORC1 complex translocation to lysosomes; Belongs to the GPR137 family. 9606.ENSP00000315112,RNF31,1072,E3 ubiquitin-protein ligase RNF31; E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following [...] 9606.ENSP00000315118,COQ8B,544,"Atypical kinase COQ8B, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration." 9606.ENSP00000315130,CLU,449,"Clusterin alpha chain; [Isoform 1]: Functions as extracellular chaperone that prevents aggregation of non native proteins. Prevents stress-induced aggregation of blood plasma proteins. Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro). Does not require ATP. Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70. Does not refold proteins by itself. Binding to cell surface receptors triggers internalization of the chaperone-client complex and sub [...] " 9606.ENSP00000315136,APBA3,575,Amyloid-beta A4 precursor protein-binding family A member 3; May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN. 9606.ENSP00000315137,SGPP2,399,Sphingosine-1-phosphate phosphatase 2; Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro. Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (By similarity). May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling. Plays a role in the regulation of pancreatic islet beta-cell endoplasmic re [...] 9606.ENSP00000315152,METAP1D,335,"Methionine aminopeptidase 1D, mitochondrial; Removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Requires deformylation of the N(alpha)-formylated initiator methionine before it can be hydrolyzed (By similarity). May play a role in colon tumorigenesis; Belongs to the peptidase M24A family. Methionine aminopeptidase type 1 subfamily." 9606.ENSP00000315182,SHQ1,577,"Protein SHQ1 homolog; Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA." 9606.ENSP00000315190,ITGA3,1051,"Integrin alpha-3 heavy chain; Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha- 3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration." 9606.ENSP00000315203,CREG2,290,Protein CREG2; Cellular repressor of E1A stimulated genes 2. 9606.ENSP00000315247,FAM71C,241,Protein FAM71C; Family with sequence similarity 71 member C. 9606.ENSP00000315263,GLTP,209,Glycolipid transfer protein; Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides. 9606.ENSP00000315265,DYNAP,210,Dynactin-associated protein; Plays a role in the regulation of cell proliferation. Promotes activation of the AKT1 signaling pathway. Promotes phosphorylation of AKT1 at 'Ser-473'. 9606.ENSP00000315295,KIAA1549L,1849,UPF0606 protein KIAA1549L; KIAA1549 like; Belongs to the UPF0606 family. 9606.ENSP00000315299,CALML3,149,"Calmodulin-like protein 3; May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates." 9606.ENSP00000315351,D2HGDH,521,"D-2-hydroxyglutarate dehydrogenase, mitochondrial; Catalyzes the oxidation of D-2-hydroxyglutarate to alpha- ketoglutarate." 9606.ENSP00000315357,ARL6IP6,226,ADP ribosylation factor like GTPase 6 interacting protein 6; Belongs to the ARL6IP6 family. 9606.ENSP00000315370,C5orf46,87,Uncharacterized protein C5orf46; Chromosome 5 open reading frame 46. 9606.ENSP00000315371,ANO5,913,Anoctamin-5; Does not exhibit calcium-activated chloride channel (CaCC) activity. 9606.ENSP00000315379,PRPF3,683,"U4/U6 small nuclear ribonucleoprotein Prp3; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex)." 9606.ENSP00000315383,ASPRV1,343,Aspartic peptidase retroviral like 1. 9606.ENSP00000315386,POGLUT3,507,Protein O-glucosyltransferase 3; Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyze the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1 and NOTCH3. May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway. 9606.ENSP00000315387,TMEM102,508,Transmembrane protein 102; Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway. 9606.ENSP00000315397,MRPS31,395,Mitochondrial ribosomal protein S31. 9606.ENSP00000315410,OSBPL3,887,"Oxysterol-binding protein-related protein 3; Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes. Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments. The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface. With VAPA, may regulate ER morphology. Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion. Binds to phosphoinositides with preference for PI(3,4)P2 [...] " 9606.ENSP00000315417,ALX1,326,"ALX homeobox protein 1; Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes. Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival. May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1. Belongs to the paired homeobox family." 9606.ENSP00000315465,DSCAML1,2113,Down syndrome cell adhesion molecule-like protein 1; Cell adhesion molecule that plays a role in neuronal self- avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retina [...] 9606.ENSP00000315474,GIMAP7,300,GTPase IMAP family member 7; The dimer has GTPase activity; the active site contains residues from both subunits. 9606.ENSP00000315476,EXOSC4,245,"Exosome complex component RRP41; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] " 9606.ENSP00000315477,CD209,404,CD209 antigen; Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response. (Microbial infection) Acts as an attachment receptor for HIV- 1 and HIV-2. (Microbial infection) Acts as an attachment receptor for Cytomegal [...] 9606.ENSP00000315505,ZNF875,659,Zinc finger protein 875; May be involved in transcriptional regulation. 9606.ENSP00000315554,SPEM1,309,Spermatid maturation protein 1; Required for proper cytoplasm removal during spermatogenesis. 9606.ENSP00000315557,TEX44,395,Testis-expressed protein 44; Testis expressed 44. 9606.ENSP00000315564,LGALS9B,355,Galectin-9B; Binds galactosides. 9606.ENSP00000315568,AVL9,648,Late secretory pathway protein AVL9 homolog; Functions in cell migration. 9606.ENSP00000315569,DIS3L2,885,"DIS3-like exonuclease 2; 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mi [...] " 9606.ENSP00000315602,CHRNA3,505,"Neuronal acetylcholine receptor subunit alpha-3; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane." 9606.ENSP00000315614,ERICH5,374,Glutamate-rich protein 5; Glutamate rich 5. 9606.ENSP00000315630,SWAP70,585,"Switch-associated protein 70; Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity)." 9606.ENSP00000315644,TYMS,313,Thymidylate synthase; Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. 9606.ENSP00000315654,KCNG2,466,Potassium voltage-gated channel subfamily G member 2; Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values; Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.2/KCNG2 sub-subfamily. 9606.ENSP00000315659,DNMBP,1577,Dynamin-binding protein; Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells. Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation. Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity). ECO:0000250|UniProtKB:Q6TXD4. 9606.ENSP00000315664,ZNF18,549,Zinc finger protein 18; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000315680,PEX7,323,Peroxisomal targeting signal 2 receptor; Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import. Belongs to the WD repeat peroxin-7 family. 9606.ENSP00000315693,PAM16,125,Mitochondrial import inner membrane translocase subunit TIM16; Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity; Belongs to the TIM16/PAM16 family. 9606.ENSP00000315700,CHAF1B,559,"Chromatin assembly factor 1 subunit B; Complex that is thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. Belongs to the WD repeat HIR1 family." 9606.ENSP00000315702,MOB4,225,"MOB-like protein phocein; May play a role in membrane trafficking, specifically in membrane budding reactions; Belongs to the MOB1/phocein family." 9606.ENSP00000315713,SSH1,1049,"Protein phosphatase Slingshot homolog 1; Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein." 9606.ENSP00000315731,METRNL,311,"Meteorin-like protein; Hormone induced following exercise or cold exposure that promotes energy expenditure. Induced either in the skeletal muscle after exercise or in adipose tissue following cold exposure and is present in the circulation. Able to stimulate energy expenditure associated with the browning of the white fat depots and improves glucose tolerance. Does not promote an increase in a thermogenic gene program via direct action on adipocytes, but acts by stimulating several immune cell subtypes to enter the adipose tissue and activate their prothermogenic actions. Stimulates a [...] " 9606.ENSP00000315743,CCNG2,344,Cyclin-G2; May play a role in growth regulation and in negative regulation of cell cycle progression; Belongs to the cyclin family. Cyclin G subfamily. 9606.ENSP00000315768,STAT2,851,"Signal transducer and activator of transcription 2; Signal transducer and activator of transcription that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize, associate with IRF9/ISGF3G to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive [...] " 9606.ENSP00000315774,NDUFS8,210,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone." 9606.ENSP00000315775,COG4,789,Conserved oligomeric Golgi complex subunit 4; Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1. Belongs to the COG4 family. 9606.ENSP00000315791,CSTF3,717,Cleavage stimulation factor subunit 3; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. 9606.ENSP00000315870,ZNF575,245,Zinc finger protein 575; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000315915,ANXA2R,193,Annexin-2 receptor; May act as a receptor for annexin II on marrow stromal cells to induce osteoclast formation. 9606.ENSP00000315931,AHCYL2,611,"Adenosylhomocysteinase 3; May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate ; Belongs to the adenosylhomocysteinase family." 9606.ENSP00000315949,HOXD8,290,Homeobox protein Hox-D8; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000315988,DPY19L2,758,Probable C-mannosyltransferase DPY19L2; Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation; Belongs to the dpy-19 family. 9606.ENSP00000315997,LILRB1,652,"Leukocyte immunoglobulin-like receptor subfamily B member 1; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of FCER1A signaling and serotonin release. Inhibits FCGR1A-mediated phosphorylatio [...] " 9606.ENSP00000316007,SCAMP4,229,Secretory carrier-associated membrane protein 4; Probably involved in membrane protein trafficking. 9606.ENSP00000316012,SPAG11A,108,"Sperm-associated antigen 11A; May have antimicrobial activity. May also play a role sperm maturation, storage, and protection." 9606.ENSP00000316029,TLN1,2541,"Talin-1; Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity)." 9606.ENSP00000316032,NUP98,1800,"Nuclear pore complex protein Nup98-Nup96; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes. Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body)." 9606.ENSP00000316042,HNRNPA0,305,Heterogeneous nuclear ribonucleoprotein A0; mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post- transcriptional regulation of cytokines mRNAs. 9606.ENSP00000316054,DVL3,716,Segment polarity protein dishevelled homolog DVL-3; Involved in the signal transduction pathway mediated by multiple Wnt genes. 9606.ENSP00000316109,AGGF1,714,"Angiogenic factor with G patch and FHA domains 1; Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion." 9606.ENSP00000316114,SGF29,293,"SAGA-associated factor 29; Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes. SGF29 specifically recognizes and binds methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me. Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival." 9606.ENSP00000316130,SYNE4,404,"Nesprin-4; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependen [...] " 9606.ENSP00000316137,DRICH1,229,Aspartate-rich protein 1; Aspartate rich 1. 9606.ENSP00000316152,SFTPC,197,Pulmonary surfactant-associated protein C; Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. 9606.ENSP00000316173,B3GNT5,378,"Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase; Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during emb [...] " 9606.ENSP00000316176,UBE2N,152,"Ubiquitin-conjugating enzyme E2 N; The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical 'Lys-63'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked poly- ubiquitination of [...] " 9606.ENSP00000316228,CLEC4M,399,"C-type lectin domain family 4 member M; Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates. (Microbial infection) Acts as an attachment receptor for Hepatitis C virus. (Microbial infection) Acts as an attachment receptor for Human coronavirus 229E. (Microbial infection) Acts as an attachment receptor for Influenzavirus. (Microbial infection) Acts as an attachment receptor [...] " 9606.ENSP00000316244,HTR1A,422,"5-hydroxytryptamine receptor 1A; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second [...] " 9606.ENSP00000316329,SCD5,330,Stearoyl-CoA desaturase 5; Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA. Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids. 9606.ENSP00000316335,FARS2,451,"Phenylalanine--tRNA ligase, mitochondrial; Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins; Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000316338,BAIAP2,552,Brain-specific angiogenesis inhibitor 1-associated protein 2; Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling whe [...] 9606.ENSP00000316357,USP9X,2570,"Probable ubiquitin carboxyl-terminal hydrolase FAF-X; Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyzes 'Lys-48'-, 'Lys-29'- and 'Lys-33'- linked polyubiquitins chains. Essential component of TGF-beta/BMP signaling cascade. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Deubiquitinat [...] " 9606.ENSP00000316377,DLGAP1,977,Disks large-associated protein 1; Part of the postsynaptic scaffold in neuronal cells; Belongs to the SAPAP family. 9606.ENSP00000316416,CSH1,217,"Chorionic somatomammotropin hormone 1; Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization." 9606.ENSP00000316454,PACS1,963,Phosphofurin acidic cluster sorting protein 1; Coat protein that is involved in the localization of trans- Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster- containing cytoplasmic domain of these molecules with the adapter- protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN; Belongs to the PACS family. 9606.ENSP00000316476,DEGS1,323,Sphingolipid delta(4)-desaturase DES1; Has sphingolipid-delta-4-desaturase activity. Converts D- erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine). Belongs to the fatty acid desaturase type 1 family. DEGS subfamily. 9606.ENSP00000316482,KCTD14,255,BTB/POZ domain-containing protein KCTD14; Potassium channel tetramerization domain containing 14. 9606.ENSP00000316491,FCAMR,577,High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor; Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM. 9606.ENSP00000316496,DCAF4L2,395,DDB1- and CUL4-associated factor 4-like protein 2; DDB1 and CUL4 associated factor 4 like 2. 9606.ENSP00000316512,TLK2,772,"Serine/threonine-protein kinase tousled-like 2; Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A AND ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy." 9606.ENSP00000316518,OR9A2,310,Olfactory receptor 9A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000316527,ZNF609,1411,"Zinc finger protein 609; Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others." 9606.ENSP00000316543,RAPH1,1250,Ras-associated and pleckstrin homology domains-containing protein 1; Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion. 9606.ENSP00000316578,SUZ12,739,"Polycomb protein SUZ12; Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A." 9606.ENSP00000316589,RANBP10,620,"Ran-binding protein 10; May act as an adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. Acts as a guanine nucleotide exchange factor (GEF) for RAN G [...] " 9606.ENSP00000316598,GTPBP6,516,GTP binding protein 6. 9606.ENSP00000316605,CNGB3,809,"Cyclic nucleotide-gated cation channel beta-3; Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked ele [...] " 9606.ENSP00000316609,SWI5,235,"DNA repair protein SWI5 homolog; Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination." 9606.ENSP00000316628,RNF152,203,"E3 ubiquitin-protein ligase RNF152; E3 ubiquitin-protein ligase mediating 'Lys-63'-linked polyubiquitination of RRAGA in response to amino acid starvation. Thereby, regulates mTORC1 signaling and plays a role in the cellular response to amino acid availability. Also mediates 'Lys-48'-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation. Induces apoptosis when overexpressed." 9606.ENSP00000316644,C3orf22,141,Uncharacterized protein C3orf22; Chromosome 3 open reading frame 22. 9606.ENSP00000316649,OSBPL2,480,"Oxysterol-binding protein-related protein 2; Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments. Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the cell membrane. Binds phosphoinositides, such as phosphatidylinositol-4,5-bisphosphate. Exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate. Binds cholesterol, dehydroergosterol, 22(R)-hydroxycholesterol and 25-hydroxycholesterol (in vitro)." 9606.ENSP00000316674,ACTL9,416,Actin-like protein 9; Actin like 9. 9606.ENSP00000316675,PVRIG,326,"Transmembrane protein PVRIG; Cell surface receptor for NECTIN2. May act as a coinhibitory receptor that suppresses T-cell receptor-mediated signals. Following interaction with NECTIN2, inhibits T-cell proliferation. Competes with CD226 for NECTIN2-binding." 9606.ENSP00000316681,CEP295,2601,"Centrosomal protein of 295 kDa; Centriole-enriched microtubule-binding protein involved in centriole biogenesis. Essential for the generation of the distal portion of new-born centrioles in a CENPJ- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure. Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles. Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriol [...] " 9606.ENSP00000316729,RHOJ,214,"Rho-related GTP-binding protein RhoJ; Plasma membrane-associated small GTPase specifically involved in angiogenesis. Required for endothelial cell migration during vascular development via its interaction with GLUL. Elicits the formation of F-actin-rich structures, thereby regulating endothelial cell migration." 9606.ENSP00000316737,LCE1D,114,Late cornified envelope protein 1D; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000316775,TMEM270,265,Transmembrane protein 270. 9606.ENSP00000316779,BIN1,593,"Myc box-dependent-interacting protein 1; Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling. Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production. In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau [...] " 9606.ENSP00000316782,NBPF3,633,Neuroblastoma breakpoint family member 3; NBPF member 3; Belongs to the NBPF family. 9606.ENSP00000316786,HSD11B2,405,"Corticosteroid 11-beta-dehydrogenase isozyme 2; Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids." 9606.ENSP00000316794,RTL3,475,"Retrotransposon Gag-like protein 3; May function as a transcriptional regulator. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal." 9606.ENSP00000316809,PITPNA,270,Phosphatidylinositol transfer protein alpha isoform; Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes. 9606.ENSP00000316842,SIX5,739,"Homeobox protein SIX5; Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity)." 9606.ENSP00000316845,ARHGEF4,690,"Rho guanine nucleotide exchange factor 4; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. Required for MMP9 up- regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression." 9606.ENSP00000316861,GPM6B,328,Neuronal membrane glycoprotein M6-b; May be involved in neural development. Involved in regulation of osteoblast function and bone formation. Involved in matrix vesicle release by osteoblasts; this function seems to involve maintenance of the actin cytoskeleton. May be involved in cellular trafficking of SERT and thereby in regulation of serotonin uptake. 9606.ENSP00000316881,P3H2,708,"Prolyl 3-hydroxylase 2; Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline. Has no activity on substrates that lack 4- hydroxyproline in the third position. Belongs to the leprecan family." 9606.ENSP00000316905,SFXN1,322,"Sideroflexin-1; Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway. Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors. Transports both D-serine and L-serine. Also able to transport other amino-acids, such as alanine. May be indirectly involved in the transport of a component required for iron utilization into or out of the mitochondria (By similarity); Belongs to the sideroflexi [...] " 9606.ENSP00000316909,SLC17A8,589,Vesicular glutamate transporter 3; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. 9606.ENSP00000316924,ACSS1,689,"Acetyl-coenzyme A synthetase 2-like, mitochondrial; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids. Acetate is the preferred substrate. Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions (By similarity). Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient (By similarity)." 9606.ENSP00000316940,TMEM31,168,Transmembrane protein 31. 9606.ENSP00000316948,CLK4,481,Dual specificity protein kinase CLK4; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine- rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates SRSF1 and SRSF3. Required for the regulation of alternative splicing of MAPT/TAU. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. La [...] 9606.ENSP00000316950,MYEF2,600,Myelin expression factor 2; Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5'-TTGTCC-3' of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity). 9606.ENSP00000316955,OR7A5,319,Olfactory receptor 7A5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000317000,TM6SF1,370,Transmembrane 6 superfamily member 1; May function as sterol isomerase. Belongs to the TM6SF family. 9606.ENSP00000317027,GCNT4,453,"Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4; Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O- glycan or I-branching enzyme activity; Belongs to the glycosyltransferase 14 family." 9606.ENSP00000317039,RMI1,625,"RecQ-mediated genome instability protein 1; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A- mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability. Belongs to the RMI1 family." 9606.ENSP00000317123,SNRNP200,2136,"U5 small nuclear ribonucleoprotein 200 kDa helicase; Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome." 9606.ENSP00000317128,PLXND1,1925,"Plexin-D1; Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E; Belongs to the plexin family." 9606.ENSP00000317144,PIBF1,757,"Progesterone-induced-blocking factor 1; Plays a role in ciliogenesis. [Isoform 4]: The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect. Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein." 9606.ENSP00000317159,CYC1,325,"Cytochrome c1, heme protein, mitochondrial; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient ove [...] " 9606.ENSP00000317175,PLEKHD1,506,Pleckstrin homology and coiled-coil domain containing D1; Belongs to the PLEKHD1 family. 9606.ENSP00000317177,PLD6,252,"Mitochondrial cardiolipin hydrolase; Endonuclease that plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAs provide essential protection against the activity of mobile genetic elements (By similarity). piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface (By similarity). Al [...] " 9606.ENSP00000317214,CAPN6,641,Calpain-6; Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity); Belongs to the peptidase C2 family. 9606.ENSP00000317224,SAMD4B,694,"Protein Smaug homolog 2; Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A. Belongs to the SMAUG family." 9606.ENSP00000317232,FKBP10,582,Peptidyl-prolyl cis-trans isomerase FKBP10; PPIases accelerate the folding of proteins during protein synthesis. 9606.ENSP00000317257,CPNE1,542,Copine-1; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Involved in the TNF-alpha receptor signaling pathway in a calcium- dependent manner. Exhibits calcium-dependent phospholipid binding properties. Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium- independent manner. May recruit target proteins to the cell membrane in a calcium-dependent manner. May function in membrane trafficking. Involved in TNF-alpha-induced NF-kappa-B transcription [...] 9606.ENSP00000317272,MET,1408,"Hepatocyte growth factor receptor; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of thes [...] " 9606.ENSP00000317289,FAM220A,259,Protein FAM220A; May negatively regulate STAT3. 9606.ENSP00000317300,LPCAT4,524,"Lysophospholipid acyltransferase LPCAT4; Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl- lysophatidylethanolamine to 1-alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl-phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acyltr [...] " 9606.ENSP00000317310,CABP1,370,"Calcium-binding protein 1; Modulates calcium-dependent activity of inositol 1,4,5- triphosphate receptors (ITPRs). Inhibits agonist- induced intracellular calcium signaling. Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels. Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C- terminal domain of CACNA1C, but has an opposite effect on channel function. Suppresses the calcium-dependent inactivation of CACNA1D (By similarity). In [...] " 9606.ENSP00000317327,UBASH3A,661,"Ubiquitin-associated and SH3 domain-containing protein A; Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligigle protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B- dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain." 9606.ENSP00000317331,SSR4,173,Translocon-associated protein subunit delta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins; Belongs to the TRAP-delta family. 9606.ENSP00000317333,NEUROG2,272,Neurogenin-2; Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5'- CANNTG-3'). 9606.ENSP00000317334,TCP1,556,"T-complex protein 1 subunit alpha; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000317357,OR13D1,346,Olfactory receptor 13D1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000317376,MRPS11,194,Mitochondrial ribosomal protein S11. 9606.ENSP00000317379,GLS,669,"Glutaminase kidney isoform, mitochondrial 65 kDa chain; Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the brain ; Belongs to the glutaminase family." 9606.ENSP00000317382,SLC36A4,504,"Proton-coupled amino acid transporter 4; Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine. Belongs to the amino acid/polyamine transporter 2 family." 9606.ENSP00000317404,CHST13,341,"Carbohydrate sulfotransferase 13; Catalyzes the transfer of sulfate to position 4 of the N- acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan." 9606.ENSP00000317431,ENTHD1,607,ENTH domain containing 1. 9606.ENSP00000317439,CNPY1,92,Canopy FGF signaling regulator 1; Belongs to the canopy family. 9606.ENSP00000317445,PSAPL1,521,Proactivator polypeptide-like 1; May activate the lysosomal degradation of sphingolipids. 9606.ENSP00000317468,CHMP6,201,"Charged multivesicular body protein 6; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function [...] " 9606.ENSP00000317469,BBS1,593,"Bardet-Biedl syndrome 1 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] " 9606.ENSP00000317473,RABGGTB,331,"Geranylgeranyl transferase type-2 subunit beta; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A; Belongs to the protein prenyltransferase subunit beta family." 9606.ENSP00000317482,OR4F4,305,Olfactory receptor 4F4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000317564,EID2B,161,"EP300-interacting inhibitor of differentiation 2B; Acts as a repressor of MYOD-dependent transcription, glucocorticoid receptor-dependent transcription, and muscle differentiation." 9606.ENSP00000317578,GRK3,688,Beta-adrenergic receptor kinase 2; Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. 9606.ENSP00000317579,C16orf58,468,RUS1 family protein C16orf58. 9606.ENSP00000317580,NEUROG1,237,Neurogenin-1; Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity). 9606.ENSP00000317595,TPPP2,170,"Tubulin polymerization-promoting protein family member 2; Probable regulator of microtubule dynamics required for sperm motility (Probable). In contrast to other members of the family, has no microtubule bundling activity." 9606.ENSP00000317614,ZNF518B,1074,Zinc finger protein 518B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000317636,RECQL5,991,"ATP-dependent DNA helicase Q5; Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination." 9606.ENSP00000317671,C12orf40,652,Uncharacterized protein C12orf40; Chromosome 12 open reading frame 40. 9606.ENSP00000317674,APOL1,414,Apolipoprotein L1; May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. 9606.ENSP00000317686,ZFP42,310,"Zinc finger protein 42 homolog; Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal (By similarity)." 9606.ENSP00000317691,RPP25,199,"Ribonuclease P protein subunit p25; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences." 9606.ENSP00000317714,STX4,297,"Syntaxin-4; Plasma membrane t-SNARE that mediates docking of transport vesicles. Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane. Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes (By similarity). May also play a role in docking of synaptic vesicles at presynaptic active zones; Belongs to the syntaxin family." 9606.ENSP00000317721,PIPOX,390,"Peroxisomal sarcosine oxidase; Metabolizes sarcosine, L-pipecolic acid and L-proline." 9606.ENSP00000317743,HARBI1,349,Putative nuclease HARBI1; Transposase-derived protein that may have nuclease activity (Potential). Does not have transposase activity. 9606.ENSP00000317780,COX5A,150,"Cytochrome c oxidase subunit 5A, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...] " 9606.ENSP00000317790,SPTBN5,3674,"Spectrin beta, non-erythrocytic 5." 9606.ENSP00000317817,SH2D3C,860,SH2 domain-containing protein 3C; Eph receptor-binding protein which may be a positive regulator of TCR signaling. Binding to BCAR1 is required to induce membrane ruffling and promote EGF-dependent cell migration (By similarity). 9606.ENSP00000317836,PRR15,129,Proline-rich protein 15; May have a role in proliferation and/or differentiation. 9606.ENSP00000317872,RBBP6,1792,"E3 ubiquitin-protein ligase RBBP6; E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome. May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of p53/TP53, leading to both apoptosis and cell growth (By similarity). Regulates DNA-replication and the stability of chromosomal common fragile sites (CFSs) in a ZBTB38- and MCM10-dependent manner. Controls ZBTB38 protein stability [...] " 9606.ENSP00000317891,TNIP1,636,TNFAIP3-interacting protein 1; Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B- dependent gene expression by regulating A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG. Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1- dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti-inflammatory response of macrophages and positively regulates TLR-induced activation of CEBPB. Involved in the prevention of autoimmunity; this f [...] 9606.ENSP00000317895,RPTN,784,Repetin; Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium. 9606.ENSP00000317902,CEP57,500,"Centrosomal protein of 57 kDa; Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1." 9606.ENSP00000317904,GYS1,737,"Glycogen [starch] synthase, muscle; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan." 9606.ENSP00000317955,EEA1,1411,Early endosome antigen 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking. 9606.ENSP00000317971,WDTC1,677,WD and tetratricopeptide repeats protein 1; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000317985,ROCK2,1388,"Rho-associated protein kinase 2; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1- p44/MAPK3 and of p90RSK/RPS6K [...] " 9606.ENSP00000317992,NOC2L,749,Nucleolar complex protein 2 homolog; Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. Acts as a transcription corepressor of p53/TP53- and TP63-mediated transactivation of the p21/CDKN1A promoter. Involved in the regulation of p53/TP53-dependent apoptosis. Associates together with TP63 isoform TA*-gamma to the p21/CDKN1A promoter. 9606.ENSP00000317997,DUOX1,1551,Dual oxidase 1; Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. 9606.ENSP00000318016,WASHC5,1159,"WASH complex subunit 5; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7." 9606.ENSP00000318029,ODF3L2,289,Outer dense fiber of sperm tails 3 like 2. 9606.ENSP00000318032,RPRML,120,Reprimo-like protein; Reprimo like. 9606.ENSP00000318057,EGR3,387,Early growth response protein 3; Probable transcription factor involved in muscle spindle development; Belongs to the EGR C2H2-type zinc-finger protein family. 9606.ENSP00000318066,ENPP4,453,"Bis(5'-adenosyl)-triphosphatase ENPP4; Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP. Ap3A and Ap4A are diadenosine polyphosphates thought to induce proliferation of vascular smooth muscle cells. Acts as a procoagulant, mediating platelet aggregation at the site of nascent thrombus via release of ADP from Ap3A and activation of ADP receptors." 9606.ENSP00000318085,HINFP,517,Histone H4 transcription factor; Transcriptional repressor that binds to the consensus sequence 5'-CGGACGTT-3' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter. 9606.ENSP00000318086,MAP7D3,876,MAP7 domain-containing protein 3; Promotes the assembly and stability of microtubules. 9606.ENSP00000318094,SCMH1,660,Polycomb protein SCMH1; Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes. 9606.ENSP00000318113,CLDN22,220,"Claudin-22; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000318128,BLOC1S4,217,"Biogenesis of lysosome-related organelles complex 1 subunit 4; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. Belongs to th [...] " 9606.ENSP00000318131,PNMA8A,439,Paraneoplastic antigen-like protein 8A; PNMA family member 8A. 9606.ENSP00000318142,FUT7,342,"Alpha-(1,3)-fucosyltransferase 7; Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl glucosamine (GlcNAc) of a distal alpha2,3 sialylated lactosamine unit of a glycoprotein or a glycolipid-linked sialopolylactosamines chain through an alpha-1,3 glycosidic linkage and participates to the final fucosylation step in the biosynthesis of the sialyl Lewis X (sLe(x)), a carbohydrate involved in cell and matrix adhesion during leukocyte trafficking and fertilization. In vitro, also synthesizes sialyl- dimeric-Lex structures, from VIM-2 structures an [...] " 9606.ENSP00000318147,EDEM3,932,"ER degradation-enhancing alpha-mannosidase-like protein 3; Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity). Belongs to the glycosyl hydrolase 47 family." 9606.ENSP00000318154,MRFAP1L1,127,Morf4 family associated protein 1 like 1. 9606.ENSP00000318158,MRPS24,167,Mitochondrial ribosomal protein S24; Belongs to the universal ribosomal protein uS3 family. 9606.ENSP00000318165,OS9,667,"Protein OS-9; Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4." 9606.ENSP00000318176,PRKRA,313,"Interferon-inducible double-stranded RNA-dependent protein kinase activator A; Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post- transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys- 386' at 'Ser-392' respectively and enhances its activity [...] " 9606.ENSP00000318177,FUBP3,572,Far upstream element-binding protein 3; May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. 9606.ENSP00000318195,NCL,710,Nucleolin; Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5'-UUAGGG- 3' repeats more tightly than the telomeric single-stranded DNA 5'- TTAGGG-3' repeats. 9606.ENSP00000318197,TUBA3E,450,"Detyrosinated tubulin alpha-3E chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Belongs to the tubulin family." 9606.ENSP00000318222,ZDHHC22,263,"Palmitoyltransferase ZDHHC22; Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane. Might also mediate palmitoylation of CNN3 (By similarity)." 9606.ENSP00000318234,COL26A1,441,Collagen type XXVI alpha 1 chain. 9606.ENSP00000318258,CSRNP3,585,Cysteine/serine-rich nuclear protein 3; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity. Plays a role in apoptosis (By similarity). 9606.ENSP00000318270,PROM2,834,Prominin-2; Prominin 2. 9606.ENSP00000318297,RUVBL1,456,RuvB-like 1; Possesses single-stranded DNA-stimulated ATPase and ATP- dependent DNA helicase (3' to 5') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring- like structure contribute to the ATPase activity. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively reg [...] 9606.ENSP00000318298,TENT5A,442,Terminal nucleotidyltransferase 5A; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase. 9606.ENSP00000318318,MPI,423,Mannose-6-phosphate isomerase; Involved in the synthesis of the GDP-mannose and dolichol- phosphate-mannose required for a number of critical mannosyl transfer reactions; Belongs to the mannose-6-phosphate isomerase type 1 family. 9606.ENSP00000318351,BCKDHB,392,"2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)." 9606.ENSP00000318352,MRFAP1,127,Morf4 family associated protein 1. 9606.ENSP00000318355,AQP10,301,"Aquaporin-10; [Isoform 1]: Water channel that mediates water transport across cell membranes irrespective of the cytosolic pH. The channel is permeable to glycerol, especially when the cytosolic pH is acidified. Contributes to adipocyte water and glycerol permeability, and may thereby contribute to the utilization of glycerol derived from phospholipid degradation. May contribute to water transport in the intestine (Probable). Belongs to the MIP/aquaporin (TC 1.A.8) family." 9606.ENSP00000318373,ZNF513,541,Zinc finger protein 513; Transcriptional regulator that plays a role in retinal development and maintenance. 9606.ENSP00000318374,LENG8,800,Leukocyte receptor cluster member 8. 9606.ENSP00000318406,KIAA0319L,1049,Dyslexia-associated protein KIAA0319-like protein; Possible role in axon guidance through interaction with RTN4R. 9606.ENSP00000318423,LINS1,757,Lines homolog 1. 9606.ENSP00000318429,CCDC114,670,Coiled-coil domain-containing protein 114; Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms. Belongs to the ODA1/DCC2 family. 9606.ENSP00000318437,FDCSP,85,"Follicular dendritic cell secreted peptide; Can bind to the surface of B-lymphoma cells, but not T- lymphoma cells, consistent with a function as a secreted mediator acting upon B-cells." 9606.ENSP00000318480,YME1L1,773,"ATP-dependent zinc metalloprotease YME1L1; ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region. Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects [...] " 9606.ENSP00000318486,CDK5R1,307,"Cyclin-dependent kinase 5 activator 1, p25; p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at 'Thr-451' and 'Thr-461' and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution." 9606.ENSP00000318585,BACE1,501,"Beta-secretase 1; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. Cleaves CHL1 (By similarity)." 9606.ENSP00000318602,PRTFDC1,225,"Phosphoribosyltransferase domain-containing protein 1; Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage; Belongs to the purine/pyrimidine phosphoribosyltransferase family." 9606.ENSP00000318604,MAF1,256,"Repressor of RNA polymerase III transcription MAF1 homolog; Plays a role in the repression of RNA polymerase III-mediated transcription in response to changing nutritional, environmental and cellular stress conditions to balance the production of highly abundant tRNAs, 5S rRNA, and other small non-coding RNAs with cell growth and maintenance. Plays also a key role in cell fate determination by promoting mesorderm induction and adipocyte differentiation (By similarity). Mechanistically, associates with the RNA polymerase III clamp and thereby impairs its recruitment to the complex made [...] " 9606.ENSP00000318607,LDLRAD3,345,"Low-density lipoprotein receptor class A domain-containing protein 3; May influence APP processing, resulting in a decrease in sAPP-alpha production and increased amyloidogenic P3 peptide production." 9606.ENSP00000318615,TRIM73,250,Tripartite motif containing 73; Belongs to the TRIM/RBCC family. 9606.ENSP00000318629,VPS37A,397,"Vacuolar protein sorting-associated protein 37A; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation." 9606.ENSP00000318635,SUMO4,95,"Small ubiquitin-related modifier 4; Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by t [...] " 9606.ENSP00000318641,INTS3,1042,"Integrator complex subunit 3; Component of the Integrator (INT) complex. The Integrator complex is involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex." 9606.ENSP00000318646,RPS15A,130,40S ribosomal protein S15a; Structural component of the ribosome. Required for proper erythropoiesis. 9606.ENSP00000318650,GREM2,168,"Gremlin-2; Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP family members. Antagonizes BMP4-induced suppression of progesterone production in granulosa cells." 9606.ENSP00000318684,VSIG2,327,V-set and immunoglobulin domain containing 2. 9606.ENSP00000318690,GCFC2,781,"GC-rich sequence DNA-binding factor 2; Factor that represses transcription. It binds to the GC-rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons; Belongs to the GCF family." 9606.ENSP00000318697,TUBB6,446,"Tubulin beta-6 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. Belongs to the tubulin family." 9606.ENSP00000318716,FAM9B,186,Protein FAM9B; Family with sequence similarity 9 member B; Belongs to the FAM9 family. 9606.ENSP00000318770,AQP11,271,"Aquaporin-11; Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain. In situation of stress, participates in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through the transport of hydrogen peroxide across the endoplasmic reticulum membrane thereby regulating the oxidative stress through the NADPH oxidase 2 pathway. Plays a role by maintaining an environment suitable for translation or protein foldings in [...] " 9606.ENSP00000318799,BHLHE22,381,"Class E basic helix-loop-helix protein 22; Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealiza [...] " 9606.ENSP00000318803,SYTL2,935,"Synaptotagmin-like protein 2; Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive." 9606.ENSP00000318804,CRLF3,442,Cytokine receptor-like factor 3; May play a role in the negative regulation of cell cycle progression. 9606.ENSP00000318821,GCC1,775,GRIP and coiled-coil domain-containing protein 1; Probably involved in maintaining Golgi structure. 9606.ENSP00000318822,BID,241,"BH3-interacting domain death agonist p11; The major proteolytic product p15 BID allows the release of cytochrome c (By similarity). Isoform 1, isoform 2 and isoform 4 induce ICE-like proteases and apoptosis. Isoform 3 does not induce apoptosis. Counters the protective effect of Bcl-2." 9606.ENSP00000318834,OR10H4,316,Olfactory receptor 10H4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000318861,SF3B2,895,"Splicing factor 3B subunit 2; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron." 9606.ENSP00000318867,CYP8B1,501,"7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase; Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha- dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids." 9606.ENSP00000318868,SHMT1,483,"Serine hydroxymethyltransferase, cytosolic; Interconversion of serine and glycine." 9606.ENSP00000318878,OR4F21,312,Olfactory receptor 4F21; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000318884,FMN2,1722,"Formin-2; Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Plays a role in responses to DNA damage, cellular stress and hypoxia [...] " 9606.ENSP00000318900,SOBP,873,Sine oculis-binding protein homolog; Implicated in development of the cochlea. 9606.ENSP00000318912,CA13,262,Carbonic anhydrase 13; Reversible hydration of carbon dioxide; Belongs to the alpha-carbonic anhydrase family. 9606.ENSP00000318914,PNMA1,353,Paraneoplastic antigen Ma1; PNMA family member 1; Belongs to the PNMA family. 9606.ENSP00000318916,MARCO,520,Macrophage receptor MARCO; Pattern recognition receptor (PRR) which binds Gram-positive and Gram-negative bacteria. Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2. 9606.ENSP00000318944,TRAF7,670,"E3 ubiquitin-protein ligase TRAF7; E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3. Potentiates MAP3K3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators. Induces apoptosis when overexpressed. Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3." 9606.ENSP00000318956,OR52K2,314,Olfactory receptor 52K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000318960,SLC35C2,394,"Solute carrier family 35 member C2; May play an important role in the cellular response to tissue hypoxia. May be either a GDP-fucose transporter that competes with SLC35C1 for GDP-fucose, or a factor that otherwise enhances the fucosylation of Notch and is required for optimal Notch signaling in mammalian cells." 9606.ENSP00000318966,PINX1,328,PIN2/TERF1-interacting telomerase inhibitor 1; Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor. Belongs to the PINX1 family. 9606.ENSP00000318974,FAM133A,248,Protein FAM133A; Family with sequence similarity 133 member A. 9606.ENSP00000318982,EPSTI1,410,Epithelial-stromal interaction protein 1; Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation (By similarity). Might play a role in RELA/p65 and STAT1 phosphorylation and nuclear localization upon activation of macrophages (By similarity). 9606.ENSP00000318986,NSUN3,340,"tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial; Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt- tRNA(Met). mt- tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5- formylcytosine (f(5)c) at this position. mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation. Belongs to the class I-like SAM-bin [...] " 9606.ENSP00000318997,OR11H4,324,Olfactory receptor 11H4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000318999,C11orf16,467,Uncharacterized protein C11orf16; Chromosome 11 open reading frame 16. 9606.ENSP00000319006,CCDC71,467,Coiled-coil domain containing 71. 9606.ENSP00000319052,CETN1,172,Centrin-1; Plays a fundamental role in microtubule-organizing center structure and function. Plays a role in sperm cilia formation (By similarity). 9606.ENSP00000319053,ZNF77,545,Zinc finger protein 77; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000319060,CAMK2G,556,"Calcium/calmodulin-dependent protein kinase type II subunit gamma; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-cou [...] " 9606.ENSP00000319071,OR11H6,330,Olfactory receptor 11H6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000319096,RAP2B,183,Ras-related protein Rap-2b; Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells. 9606.ENSP00000319104,SUPT6H,1726,"Transcription elongation factor SPT6; Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C- terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex [...] " 9606.ENSP00000319118,GSX2,304,"GS homeobox 2; During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). Transcription factor that binds 5'-CNAATTAG-3' DNA sequence. Belongs to the Antp homeobox family." 9606.ENSP00000319126,DEFB112,113,Beta-defensin 112; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000319140,PSG11,335,Pregnancy specific beta-1-glycoprotein 11. 9606.ENSP00000319141,CYBRD1,286,Cytochrome b reductase 1; Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells. 9606.ENSP00000319169,PRMT5,637,"Protein arginine N-methyltransferase 5, N-terminally processed; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H and may regulate its transcriptional elongation properties. Mono- and dimethylates argin [...] " 9606.ENSP00000319170,DHFR2,187,"Dihydrofolate reductase 2, mitochondrial; Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR." 9606.ENSP00000319179,KDF1,398,Keratinocyte differentiation factor 1; Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity). 9606.ENSP00000319192,STK17A,414,Serine/threonine-protein kinase 17A; Acts as a positive regulator of apoptosis. Also acts as a regulator of cellular reactive oxygen species. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily. 9606.ENSP00000319197,OR4K17,343,Olfactory receptor 4K17; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000319217,OR4L1,312,Olfactory receptor 4L1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000319222,ZNF720,126,Putative protein ZNF720; Zinc finger protein 720. 9606.ENSP00000319231,PHLDA2,152,"Pleckstrin homology-like domain family A member 2; Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity). Belongs to the PHLDA2 family." 9606.ENSP00000319240,MAGOHB,148,Protein mago nashi homolog 2; Required for pre-mRNA splicing as component of the spliceosome. Plays a redundant role with MAGOH in the exon junction complex and in the nonsense-mediated decay (NMD) pathway. 9606.ENSP00000319250,GPR62,368,G-protein coupled receptor 62; Orphan G-protein coupled receptor. Constitutively activates the G(q/11)/inositol phosphate and the G(s)-alpha/cAMP signaling pathways. Has spontaneous activity for beta-arrestin recruitment. Shows a reciprocal modulation of signaling functions with the melatonin receptor MTNR1B most likely through receptor heteromerization. 9606.ENSP00000319255,CHORDC1,332,"Cysteine and histidine-rich domain-containing protein 1; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis." 9606.ENSP00000319281,BASP1,227,Brain abundant membrane attached signal protein 1; Belongs to the BASP1 family. 9606.ENSP00000319305,ZNF572,529,Zinc finger protein 572; May be involved in transcriptional regulation. 9606.ENSP00000319341,LSM10,123,"U7 snRNA-associated Sm-like protein LSm10; Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to U7 snRNA. Binds to the downstream cleavage product (DCP) of histone pre- mRNA in a U7 snRNP dependent manner." 9606.ENSP00000319370,KCNMB3,279,"Calcium-activated potassium channel subunit beta-3; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of [...] " 9606.ENSP00000319388,MAMDC4,1137,Apical endosomal glycoprotein; Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia. 9606.ENSP00000319412,ARMC10,343,Armadillo repeat-containing protein 10; May play a role in cell survival and cell growth. May suppress the transcriptional activity of p53/TP53. 9606.ENSP00000319417,SKA3,412,"Spindle and kinetochore-associated protein 3; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it mediates the microtubule- stimulated oligomerization. Affinity for microtubules is synergistically enhanced in the [...] " 9606.ENSP00000319464,CPN2,545,Carboxypeptidase N subunit 2; The 83 kDa subunit binds and stabilizes the catalytic subunit at 37 degrees Celsius and keeps it in circulation. Under some circumstances it may be an allosteric modifier of the catalytic subunit. 9606.ENSP00000319476,ICOS,199,"Inducible T-cell costimulator; Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up-regulate the production of interleukin- 2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre-activated T-cells. Plays a critical role in CD40- mediated class switching o [...] " 9606.ENSP00000319482,DCUN1D3,304,"DCN1-like protein 3; Antagonizes DCUN1D1-mediated CUL1 neddylation by sequestering CUL1 at the cell membrane. When overexpressed in transformed cells, may promote mesenchymal to epithelial-like changes and inhibit colony formation in soft agar." 9606.ENSP00000319486,TSPAN16,245,Tetraspanin-16; Tetraspanin 16. 9606.ENSP00000319501,UGDH,494,"UDP-glucose 6-dehydrogenase; Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans. Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity). Belongs to the UDP-glucose/GDP-mannose dehydrogenase family." 9606.ENSP00000319511,OR4K5,323,Olfactory receptor 4K5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000319531,GCSH,173,"Glycine cleavage system H protein, mitochondrial; The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Belongs to the GcvH family." 9606.ENSP00000319546,OR2A4,310,Olfactory receptor 2A4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000319590,PRR18,295,Proline-rich protein 18; Proline rich 18. 9606.ENSP00000319591,KCND3,655,Potassium voltage-gated channel subfamily D member 3; Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily. 9606.ENSP00000319597,SNAPC5,98,"snRNA-activating protein complex subunit 5; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box." 9606.ENSP00000319622,SULT1C2,307,"Sulfotransferase 1C2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF)." 9606.ENSP00000319623,IGDCC4,1250,Immunoglobulin superfamily DCC subclass member 4; Belongs to the immunoglobulin superfamily. DCC family. 9606.ENSP00000319635,CXCR2,360,"C-X-C chemokine receptor type 2; Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2." 9606.ENSP00000319636,B3GNT4,378,"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides; Belongs to the glycosyltransferase 31 family." 9606.ENSP00000319651,DMRTA1,504,Doublesex- and mab-3-related transcription factor A1; DMRT like family A1; Belongs to the DMRT family. 9606.ENSP00000319664,NUDC,331,Nuclear migration protein nudC; Plays a role in neurogenesis and neuronal migration (By similarity). Necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Necessary for cytokinesis and cell proliferation. 9606.ENSP00000319673,GPR89A,455,Golgi pH regulator A; Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance; Belongs to the Golgi pH regulator (TC 1.A.38) family. 9606.ENSP00000319705,DUOXA2,320,Dual oxidase maturation factor 2; Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis. 9606.ENSP00000319713,AGTRAP,159,Type-1 angiotensin II receptor-associated protein; Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II- stimulated transcriptional activity. 9606.ENSP00000319726,FRMD8,464,"FERM domain-containing protein 8; Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface. Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6." 9606.ENSP00000319730,PRSS8,343,Prostasin heavy chain; Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). 9606.ENSP00000319739,RCN2,335,Reticulocalbin-2; Not known. Binds calcium. 9606.ENSP00000319744,GPR4,362,"G-protein coupled receptor 4; Proton-sensing receptor coupled to several G-proteins, including G(s), G(13) and G(q)/G(11) proteins, leading to cAMP production." 9606.ENSP00000319756,TNS2,1419,"Tensin-2; Tyrosine-protein phosphatase which regulates cell motility proliferation and muscle-response to insulin. In muscles and under catabolic conditions, dephosphorylates IRS1 leading to its degradation and muscle atrophy. Negatively regulates PI3K-AKT pathway activation." 9606.ENSP00000319781,RAB43,212,"Ras-related protein Rab-43; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The low intrinsic GTPase activity of RAB43 is activated by USP6NL. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga [...] " 9606.ENSP00000319788,NQO1,274,NAD(P)H dehydrogenase [quinone] 1; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis. 9606.ENSP00000319796,SERINC4,518,"Serine incorporator 4; Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids." 9606.ENSP00000319799,H1-8,346,"Histone H1oo; May play a key role in the control of gene expression during oogenesis and early embryogenesis, presumably through the perturbation of chromatin structure. Essential for meiotic maturation of germinal vesicle-stage oocytes. The somatic type linker histone H1c is rapidly replaced by H1oo in a donor nucleus transplanted into an oocyte. The greater mobility of H1oo as compared to H1c may contribute to this rapid replacement and increased instability of the embryonic chromatin structure. The rapid replacement of H1c with H1oo may play an important role in nuclear remodeling ( [...] " 9606.ENSP00000319814,PCK1,622,"Phosphoenolpyruvate carboxykinase, cytosolic [GTP]; Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle. At low glucose levels, it catalyzes the cataplerotic conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate. Belongs to the phosphoenolpyruvate carboxykinase [...] " 9606.ENSP00000319817,OPA3,180,Outer mitochondrial membrane lipid metabolism regulator OPA3. 9606.ENSP00000319829,ZNF687,1237,Zinc finger protein 687; May be involved in transcriptional regulation. 9606.ENSP00000319831,DEF6,631,"Differentially expressed in FDCP 6 homolog; Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity)." 9606.ENSP00000319846,SLURP2,97,"Secreted Ly-6/uPAR domain-containing protein 2; Binds and may modulate the functional properties of nicotinic and muscarinic acetylcholine receptors. May regulate keratinocytes proliferation, differentiation and apoptosis. In vitro moderately inhibits ACh-evoked currents of alpha-3:beta-2-containing nAChRs and strongly these of alpha-4:beta-2-containing nAChRs, modulates alpha-7- containing nAChRs, and inhibits nicotine-induced signaling probably implicating alpha-3:beta-4-containing nAChRs. Proposed to act on alpha- 3:beta-2 and alpha-7 nAChRs in an orthosteric, and on mAChRs, such as [...] " 9606.ENSP00000319851,CHDH,594,"Choline dehydrogenase, mitochondrial; Choline dehydrogenase." 9606.ENSP00000319883,ADGRE2,823,"Adhesion G protein-coupled receptor E2; Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins. Is a regulator of mast cell degranulation." 9606.ENSP00000319914,TCIM,106,"Transcriptional and immune response regulator; Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1. Enhances the proliferation of follicular dendritic cells. Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle. In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcri [...] " 9606.ENSP00000319918,ITFG1,612,T-cell immunomodulatory protein; Modulator of T-cell function. Has a protective effect in graft versus host disease model (By similarity); Belongs to the TIP family. 9606.ENSP00000319974,BBX,941,HMG box transcription factor BBX; Transcription factor that is necessary for cell cycle progression from G1 to S phase. 9606.ENSP00000319979,B3GNTL1,361,"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1; Putative glycosyltransferase; Belongs to the glycosyltransferase 2 family." 9606.ENSP00000319991,SLC16A6,523,"Monocarboxylate transporter 7; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family." 9606.ENSP00000319992,TMEM11,192,"Transmembrane protein 11, mitochondrial; Plays a role in mitochondrial morphogenesis. Belongs to the TMEM11 family." 9606.ENSP00000320006,MPDZ,2070,Multiple PDZ domain protein; Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses. 9606.ENSP00000320017,PHYHIP,330,Phytanoyl-CoA hydroxylase-interacting protein; Its interaction with PHYH suggests a role in the development of the central system. 9606.ENSP00000320025,CACNB2,660,"Voltage-dependent L-type calcium channel subunit beta-2; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting." 9606.ENSP00000320038,ARHGAP33,1126,Rho GTPase-activating protein 33; May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity). Belongs to the PX domain-containing GAP family. 9606.ENSP00000320043,LYPLA1,230,Acyl-protein thioesterase 1; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has depalmitoylating activity toward KCNMA1. Has low lysophospholipase activity; Belongs to the AB hydrolase superfamily. AB hydrolase 2 family. 9606.ENSP00000320077,OR4D11,311,Olfactory receptor 4D11; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000320081,DIPK2A,430,Divergent protein kinase domain 2A; May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade; Belongs to the DIPK family. 9606.ENSP00000320084,CD276,534,CD276 antigen; May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulat [...] 9606.ENSP00000320089,NKX2-6,301,"Homeobox protein Nkx-2.6; Acts as a transcriptional activator. In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development." 9606.ENSP00000320092,SH3GL3,355,Endophilin-A3; Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity). 9606.ENSP00000320096,ZNF784,323,Zinc finger protein 784; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000320117,TRIP10,601,"Cdc42-interacting protein 4; Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5- bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form en [...] " 9606.ENSP00000320130,DYNC1I1,645,Cytoplasmic dynein 1 intermediate chain 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kine [...] 9606.ENSP00000320147,EZH2,751,"Histone-lysine N-methyltransferase EZH2; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2. Compared to EZH1-containing complexes, it is m [...] " 9606.ENSP00000320171,PKM,531,"Pyruvate kinase PKM; Glycolytic enzyme that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP. Stimulates POU5F1-mediated transcriptional activation. Plays a general role in caspase independent cell death of tumor cells. The ratio between the highly active tetrameric form and nearly inactive dimeric form determines whether glucose carbons are channeled to biosynthetic processes or used for glycolytic ATP production. The transition between the 2 forms contributes to the control of glycolysis and is important for tumor cell proliferation a [...] " 9606.ENSP00000320176,HCLS1,486,Hematopoietic lineage cell-specific protein; Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression. 9606.ENSP00000320180,GHRHR,423,"Growth hormone-releasing hormone receptor; Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion; Belongs to the G-protein coupled receptor 2 family." 9606.ENSP00000320184,MRPS23,190,Mitochondrial ribosomal protein S23; Belongs to the mitochondrion-specific ribosomal protein mS23 family. 9606.ENSP00000320188,ZNF579,562,Zinc finger protein 579; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000320209,CIDEA,219,"Cell death activator CIDE-A; Acts as a CEBPB coactivator in mammary epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid tran [...] " 9606.ENSP00000320217,SLC26A10,563,Solute carrier family 26 member 10; Chloride/bicarbonate exchanger. 9606.ENSP00000320219,ARSJ,599,Arylsulfatase family member J. 9606.ENSP00000320232,CCDC168,7081,Coiled-coil domain containing 168. 9606.ENSP00000320236,TIMM22,194,"Mitochondrial import inner membrane translocase subunit Tim22; Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity). Belongs to the Tim17/Tim22/Tim23 family." 9606.ENSP00000320246,SLC9A9,645,Sodium/hydrogen exchanger 9; May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. 9606.ENSP00000320247,AQP6,282,"Aquaporin-6; Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism." 9606.ENSP00000320251,NEPRO,567,Nucleolus and neural progenitor protein; May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development. 9606.ENSP00000320291,OSBPL1A,950,Oxysterol-binding protein-related protein 1; Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A. Binds 25-hydroxycholesterol and cholesterol ; Belongs to the OSBP family. 9606.ENSP00000320295,TUBB3,450,"Tubulin beta-3 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance. Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion. Plays a role in dorsal root ganglion axon projection towards the spinal cord." 9606.ENSP00000320309,FARSA,508,phenylalanyl-tRNA synthetase subunit alpha. 9606.ENSP00000320318,NEU4,497,"Sialidase-4; May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4- MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids." 9606.ENSP00000320324,NPEPPS,919,Puromycin-sensitive aminopeptidase; Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain more efficiently than tau from Alzheimer disease brain. 9606.ENSP00000320337,PLAAT3,162,"Phospholipase A and acyltransferase 3; Exhibits both phospholipase A1/2 and acyltransferase activities. Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids. For most substrates, PLA1 activity is much higher than PLA2 activity. Shows O-acyltransferase activity,catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid. Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at [...] " 9606.ENSP00000320346,ELL3,397,"RNA polymerase II elongation factor ELL3; Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of [...] " 9606.ENSP00000320347,ZFP3,502,Zinc finger protein 3 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000320359,IFT22,185,Intraflagellar transport protein 22 homolog; Small GTPase-like component of the intraflagellar transport (IFT) complex B; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000320376,P2RY13,354,P2Y purinoceptor 13; Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system. 9606.ENSP00000320378,SLC7A8,535,"Large neutral amino acids transporter small subunit 2; Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administe [...] " 9606.ENSP00000320401,UGT2B17,530,"UDP-glucuronosyltransferase 2B17; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4- methylumbelliferone > dihydrotestosterone (DHT) > androstane-3- alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT)." 9606.ENSP00000320416,VPS37D,251,"Vacuolar protein sorting-associated protein 37D; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation; Belongs to the VPS37 family." 9606.ENSP00000320430,S100Z,99,S100 calcium binding protein Z; Belongs to the S-100 family. 9606.ENSP00000320431,ST8SIA3,380,"Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase; Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid; Belongs to the glycosyltransferase 29 family." 9606.ENSP00000320434,CTNNAL1,734,Alpha-catulin; May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1). 9606.ENSP00000320485,ARID1A,2285,"AT-rich interactive domain-containing protein 1A; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors- specific chromatin remodeling complex (npBAF complex) and the neuron- specific chromatin remodeling complex (nBAF complex). During neural dev [...] " 9606.ENSP00000320488,NAP1L5,182,Nucleosome assembly protein 1 like 5. 9606.ENSP00000320508,RNF185,192,"E3 ubiquitin-protein ligase RNF185; E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating 'Lys-63'-linked polyubiquitination of BNIP1. Acts in the endoplasmic reticulum (ER)- associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis. Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway. Preferentially associates with the E2 enzymes U [...] " 9606.ENSP00000320509,BANK1,785,B-cell scaffold protein with ankyrin repeats; Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2. 9606.ENSP00000320520,LRRC75B,315,Leucine-rich repeat-containing protein 75B; Leucine rich repeat containing 75B. 9606.ENSP00000320521,FAM3A,244,Protein FAM3A; May act as a defensin against invading fungal microorganisms; Belongs to the FAM3 family. 9606.ENSP00000320532,WFDC9,89,Protein WFDC9; WAP four-disulfide core domain 9. 9606.ENSP00000320543,EPN2,641,Epsin-2; Plays a role in the formation of clathrin-coated invaginations and endocytosis; Belongs to the epsin family. 9606.ENSP00000320548,DNAJC4,249,DnaJ heat shock protein family member C4. 9606.ENSP00000320560,OR2D3,330,Olfactory receptor 2D3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000320563,WDFY4,3184,"WD repeat- and FYVE domain-containing protein 4; Plays a critical role in the regulation of cDC1-mediated cross-presentation of viral and tumor antigens in dendritic cells. Mechanistically, acts near the plasma membrane and interacts with endosomal membranes to promote endosomal-to-cytosol antigen trafficking. Plays also a role in B-cell survival through regulation of autophagy." 9606.ENSP00000320566,ING3,418,"Inhibitor of growth protein 3; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicat [...] " 9606.ENSP00000320567,MRPS33,106,Mitochondrial ribosomal protein S33; Belongs to the mitochondrion-specific ribosomal protein mS33 family. 9606.ENSP00000320604,FAXDC2,333,Fatty acid hydroxylase domain-containing protein 2; Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression. 9606.ENSP00000320634,SLCO3A1,710,"Solute carrier organic anion transporter family member 3A1; Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate. Mediates transport of prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II, BQ-123 and vasopressin, but not DPDPE (a derivative of enkephalin lacking an N-terminal tyrosine residue), estrone-3-sulfate, taurocholate, digoxin nor DHEAS." 9606.ENSP00000320648,WDR97,1622,WD repeat domain 97. 9606.ENSP00000320649,CCDC89,374,Coiled-coil domain containing 89; Belongs to the CCDC89 family. 9606.ENSP00000320650,DNAJC25,360,DnaJ heat shock protein family member C25; Belongs to the DNAJC25 family. 9606.ENSP00000320658,YARS2,477,"Tyrosine--tRNA ligase, mitochondrial; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two- step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr). Belongs to the class-I aminoacyl-tRNA synthetase family." 9606.ENSP00000320663,EML4,981,"Echinoderm microtubule-associated protein-like 4; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic; Belongs to the WD repeat EMAP family." 9606.ENSP00000320679,STX19,294,Syntaxin-19; Plays a role in endosomal trafficking of the epidermal growth factor receptor (EGFR); Belongs to the syntaxin family. 9606.ENSP00000320688,SLC25A36,311,"Solute carrier family 25 member 36; Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially cytosine and uracil (deoxy)nucleoside mono-, di-, and triphosphates by uniport and antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potentia [...] " 9606.ENSP00000320757,TMEM150B,233,"Modulator of macroautophagy TMEM150B; Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux. Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner. May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival. Belongs to the DRAM/TMEM150 family." 9606.ENSP00000320794,USF3,2245,"Basic helix-loop-helix domain-containing protein USF3; Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties." 9606.ENSP00000320797,TUBD1,453,Tubulin delta chain; Acts as a positive regulator of hedgehog signaling and regulates ciliary function; Belongs to the tubulin family. 9606.ENSP00000320813,DEFB104A,72,Beta-defensin 104; Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103; Belongs to the beta-defensin family. 9606.ENSP00000320815,GDPD4,520,Glycerophosphodiester phosphodiesterase domain containing 4; Belongs to the glycerophosphoryl diester phosphodiesterase family. 9606.ENSP00000320821,KIF1C,1103,Kinesin-like protein KIF1C; Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility. 9606.ENSP00000320849,CCDC184,194,Coiled-coil domain containing 184. 9606.ENSP00000320866,CALR,417,"Calreticulin; Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity); Belongs to the calreticulin family." 9606.ENSP00000320869,TRIM41,630,E3 ubiquitin-protein ligase TRIM41; Functions as an E3 ligase that catalyzes the ubiquitin- mediated degradation of protein kinase C. Belongs to the TRIM/RBCC family. 9606.ENSP00000320885,SPAST,616,"Spastin; ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation [...] " 9606.ENSP00000320886,MLXIPL,852,Carbohydrate-responsive element-binding protein; Transcriptional repressor. Binds to the canonical and non- canonical E box sequences 5'-CACGTG-3' (By similarity). 9606.ENSP00000320898,RNF168,571,"E3 ubiquitin-protein ligase RNF168; E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recrui [...] " 9606.ENSP00000320924,WIPF2,440,WAS/WASL-interacting protein family member 2; Plays an active role in the formation of cell surface protrusions downstream of activated PDGFB receptors. Plays an important role in actin-microspike formation through cooperation with WASL. May cooperate with WASP and WASL to induce mobilization and reorganization of the actin filament system. 9606.ENSP00000320935,SLC2A4,509,"Solute carrier family 2, facilitated glucose transporter member 4; Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation. Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells. Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell." 9606.ENSP00000320936,IL17RA,866,"Interleukin-17 receptor A; Receptor for IL17A. Receptor for IL17F. Binds to IL17A with higher affinity than to IL17F. Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC. Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC. Receptor for IL17C as part of a heterodimeric complex with IL17RE. Activation of IL17RA leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1, CXCL8/IL8 and IL6." 9606.ENSP00000320949,CNOT1,2376,"CCR4-NOT transcription complex subunit 1; Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRN [...] " 9606.ENSP00000320951,DEFB103A,67,"Beta-defensin 103; Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed." 9606.ENSP00000320957,VGLL2,317,Transcription cofactor vestigial-like protein 2; May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles; Belongs to the vestigial family. 9606.ENSP00000321005,CD300LG,332,CMRF35-like molecule 9; Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity). 9606.ENSP00000321021,C11orf42,333,Uncharacterized protein C11orf42; Chromosome 11 open reading frame 42. 9606.ENSP00000321026,LURAP1L,228,Leucine rich adaptor protein 1 like. 9606.ENSP00000321038,TMEM86B,226,Lysoplasmalogenase; Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties; Belongs to the TMEM86 family. 9606.ENSP00000321070,ME2,584,"NAD-dependent malic enzyme, mitochondrial; Malic enzyme 2; Belongs to the malic enzymes family." 9606.ENSP00000321077,SIGLEC8,499,"Sialic acid-binding Ig-like lectin 8; Putative adhesion molecule that mediates sialic-acid dependent binding to red blood cells. Preferentially binds to alpha-2,3-linked sialic acid. Also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. Recognizes simultaneously epitopes having a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. Preferentially binds to Gal-6- sulfated sialyl-Lewis X glycan epitopes." 9606.ENSP00000321106,TAC1,129,"C-terminal-flanking peptide; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles." 9606.ENSP00000321108,SPOCK2,424,Testican-2; May participate in diverse steps of neurogenesis. Binds calcium. 9606.ENSP00000321132,ZNF554,538,Zinc finger protein 554; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000321179,RBM44,1052,RNA-binding protein 44; Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity). 9606.ENSP00000321195,ATP11B,1177,Probable phospholipid-transporting ATPase IF; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane. 9606.ENSP00000321196,OR56B4,319,Olfactory receptor 56B4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000321203,TNIP2,429,TNFAIP3-interacting protein 2; Inhibits NF-kappa-B activation by blocking the interaction of RIPK1 with its downstream effector NEMO/IKBKG. Forms a ternary complex with NFKB1 and MAP3K8 but appears to function upstream of MAP3K8 in the TLR4 signaling pathway that regulates MAP3K8 activation. Involved in activation of the MEK/ERK signaling pathway during innate immune response; this function seems to be stimulus- and cell type specific. Required for stability of MAP3K8. Involved in regulation of apoptosis in endothelial cells; promotes TEK agonist-stimulated endothelial survival. May ac [...] 9606.ENSP00000321221,SH2B1,756,"SH2B adapter protein 1; Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphoryla [...] " 9606.ENSP00000321239,RCHY1,261,"RING finger and CHY zinc finger domain-containing protein 1; Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity." 9606.ENSP00000321246,OR56A1,318,Olfactory receptor 56A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000321249,SIGLECL1,197,SIGLEC family like 1. 9606.ENSP00000321259,TALDO1,337,Transaldolase; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway. 9606.ENSP00000321260,COX8A,69,"Cytochrome c oxidase subunit 8A, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...] " 9606.ENSP00000321271,PXMP2,195,Peroxisomal membrane protein 2; Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane. 9606.ENSP00000321309,VCX2,139,Variable charge X-linked protein 2; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Belongs to the VCX/VCY family. 9606.ENSP00000321320,HGH1,390,HGH1 homolog; Belongs to the HGH1 family. 9606.ENSP00000321326,F2R,425,Proteinase-activated receptor 1; High affinity receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation and in vascular development. 9606.ENSP00000321330,RNF144A,292,E3 ubiquitin-protein ligase RNF144A; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC; Belongs to the RBR family. RNF144 subfamily. 9606.ENSP00000321334,LPA,2040,Apolipoprotein(a); Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1. Lp(a) may be a ligand for megalin/Gp 330; Belongs to the peptidase S1 family. Plasminogen subfamily. 9606.ENSP00000321338,OR4C5,326,Olfactory receptor 4C5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000321345,IL23R,629,"Interleukin-23 receptor; Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis. Belongs to the type I cytokine receptor family. Type 2 subfamily." 9606.ENSP00000321346,TTLL11,800,Tubulin polyglutamylase TTLL11; Polyglutamase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Generates long side-chains (By similarity). 9606.ENSP00000321347,STRBP,672,Spermatid perinuclear RNA-binding protein; Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity). 9606.ENSP00000321348,DIAPH2,1101,"Protein diaphanous homolog 2; Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton; Belongs to the formin homology family. Diaphanous subfamily." 9606.ENSP00000321360,C14orf177,125,Putative uncharacterized protein C14orf177; Chromosome 14 putative open reading frame 177. 9606.ENSP00000321370,ZBED2,218,Zinc finger BED-type containing 2. 9606.ENSP00000321386,FBXO39,442,F-box only protein 39; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000321388,ASB4,426,Ankyrin repeat and SOCS box protein 4; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity); Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000321424,SLC34A1,639,Sodium-dependent phosphate transport protein 2A; Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx; Belongs to the SLC34A transporter family. 9606.ENSP00000321427,KCNH5,988,Potassium voltage-gated channel subfamily H member 5; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily. 9606.ENSP00000321445,MSC,206,Musculin; Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation. 9606.ENSP00000321447,OR4S1,309,Olfactory receptor 4S1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000321449,RRP7A,280,Ribosomal RNA processing 7 homolog A. 9606.ENSP00000321455,MICU3,530,"Calcium uptake protein 3, mitochondrial; May play a role in mitochondrial calcium uptake." 9606.ENSP00000321475,KLHL38,581,Kelch-like protein 38; Kelch like family member 38. 9606.ENSP00000321498,SLC37A3,494,Sugar phosphate exchanger 3; Solute carrier family 37 member 3. 9606.ENSP00000321506,OR4X1,305,Olfactory receptor 4X1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000321519,C19orf18,215,Uncharacterized protein C19orf18; Chromosome 19 open reading frame 18. 9606.ENSP00000321537,LLGL1,1064,"Lethal(2) giant larvae protein homolog 1; Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane." 9606.ENSP00000321544,KBTBD11,623,Kelch repeat and BTB domain containing 11. 9606.ENSP00000321546,BORCS5,196,"BLOC-1-related complex subunit 5; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility." 9606.ENSP00000321573,DCBLD2,775,"Discoidin, CUB and LCCL domain containing 2." 9606.ENSP00000321584,IMPDH2,514,"Inosine-5'-monophosphate dehydrogenase 2; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors." 9606.ENSP00000321606,CRMP1,686,"Dihydropyrimidinase-related protein 1; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance. During the axon guidance process, acts downstream of SEMA3A to promote FLNA dissociation from F-actin which results in the rearrangement of the actin cytoskeleton and the collapse of the growth cone. Involved in invasive growth and cell migration. May participate in cytokinesis." 9606.ENSP00000321617,ANKZF1,726,Ankyrin repeat and zinc finger domain-containing protein 1; Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress. Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity). Belongs to the ANKZF1/VMS1 family. 9606.ENSP00000321627,ANKFN1,763,Ankyrin repeat and fibronectin type III domain containing 1. 9606.ENSP00000321636,TOP3A,1001,"DNA topoisomerase 3-alpha; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils [...] " 9606.ENSP00000321656,CDC25C,473,"M-phase inducer phosphatase 3; Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity." 9606.ENSP00000321679,ANKRD23,305,Ankyrin repeat domain-containing protein 23; May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression. 9606.ENSP00000321684,MEOX1,254,"Homeobox protein MOX-1; Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints. Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independen [...] " 9606.ENSP00000321691,GATD1,220,Glutamine amidotransferase like class 1 domain containing 1; Belongs to the peptidase C56 family. 9606.ENSP00000321703,TACC1,805,"Transforming acidic coiled-coil-containing protein 1; Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways. Might promote the nuclear localization of the receptors. Likely involved in the processes that promote cell division prior to the formation of differentiated tissues. Belongs to the TACC family." 9606.ENSP00000321706,GEMIN4,1058,"Gem-associated protein 4; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] " 9606.ENSP00000321711,DIS3L,1054,"DIS3-like exonuclease 1; Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA." 9606.ENSP00000321729,OR51V1,321,Olfactory receptor 51V1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000321735,SLC16A8,504,"Monocarboxylate transporter 3; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity)." 9606.ENSP00000321744,H2BC4,126,"Histone H2B type 1-C/E/F/G/I; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000321797,FGF8,244,"Fibroblast growth factor 8; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Plays a role in neurite outgrowth in hippocampal cells. Belongs to the heparin-binding growth factors family." 9606.ENSP00000321804,PAQR4,273,Progestin and adipoQ receptor family member 4. 9606.ENSP00000321805,RIT2,217,GTP-binding protein Rit2; Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator. 9606.ENSP00000321810,TRIT1,467,"tRNA dimethylallyltransferase; Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i(6)A)." 9606.ENSP00000321812,ZNF776,518,Zinc finger protein 776; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000321826,STXBP5,1151,Syntaxin-binding protein 5; Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans- SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity). Belongs to the WD repeat L(2)GL family. 9606.ENSP00000321835,ETV4,484,ETS translocation variant 4; Transcriptional activator that binds to the enhancer of the adenovirus E1A gene; the core-binding sequence is 5'[AC]GGA[AT]GT-3'. 9606.ENSP00000321848,ZNF671,534,Zinc finger protein 671; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000321853,SERPINF2,491,"Alpha-2-antiplasmin; Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase- 3/TMPRSS7 and chymotrypsin." 9606.ENSP00000321856,CRELD1,422,Protein disulfide isomerase CRELD1; Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity); Belongs to the CRELD family. 9606.ENSP00000321874,B3GNT3,372,"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides. Also acts as a core1-1,3-N- acetylglucosaminyltransferase (Core1-beta3GlcNAcT) to form the 6-sulfo sialyl Lewis x on extended core1 O-glycans." 9606.ENSP00000321927,FBXL13,735,"Dynein regulatory complex subunit 6; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Belongs to the DRC6 family." 9606.ENSP00000321951,FAIM2,316,"Protein lifeguard 2; Antiapoptotic protein which protects cells uniquely from Fas- induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development. Belongs to the BI1 family. LFG subfamily." 9606.ENSP00000321962,FIBIN,211,Fin bud initiation factor homolog; Belongs to the FIBIN family. 9606.ENSP00000321963,ZSCAN4,433,Zinc finger and SCAN domain-containing protein 4; Embryonic stem (ES) cell-specific transcription factor required to regulate ES cell pluripotency. Binds telomeres and plays a key role in genomic stability in ES cells by regulating telomere elongation. Acts as an activator of spontaneous telomere sister chromatid exchange (T-SCE) and telomere elongation in undifferentiated ES cells (By similarity). 9606.ENSP00000321971,RHOT2,618,Mitochondrial Rho GTPase 2; Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (By similarity). 9606.ENSP00000321976,NKPD1,610,NTPase KAP family P-loop domain containing 1. 9606.ENSP00000321987,TSPEAR,669,Thrombospondin-type laminin G domain and EAR repeat-containing protein; Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway. May play a role in development or function of the auditory system. 9606.ENSP00000321997,LARP1B,914,La ribonucleoprotein 1B; Belongs to the LARP family. 9606.ENSP00000322020,SLC25A22,323,Mitochondrial glutamate carrier 1; Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000322061,C7,843,Complement component C7; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor; Belongs to the complement C6/C7/C8/C9 family. 9606.ENSP00000322088,OR52E2,325,Olfactory receptor 52E2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000322159,ATG4C,458,"Cysteine protease ATG4C; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Is not essential for autophagy development under normal conditions but is required for a proper autophagic response under stressful conditions such as prolonged starvation (By similarity). Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy [...] " 9606.ENSP00000322170,PFN4,129,"Profilin-4; Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin , contrary to other family members; Belongs to the profilin family." 9606.ENSP00000322180,DSCC1,393,"Sister chromatid cohesion protein DCC1; Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3." 9606.ENSP00000322181,DPM2,84,Dolichol phosphate-mannose biosynthesis regulatory protein; Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity. 9606.ENSP00000322191,DEFB104B,72,Defensin beta 104B. 9606.ENSP00000322192,PGA3,388,"Pepsin A-3; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent." 9606.ENSP00000322218,PITPNM2,1349,Membrane-associated phosphatidylinositol transfer protein 2; Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions. 9606.ENSP00000322229,FADS1,501,"Acyl-CoA (8-3)-desaturase; Isoform 1: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapent [...] " 9606.ENSP00000322238,C14orf119,140,Uncharacterized protein C14orf119; Chromosome 14 open reading frame 119. 9606.ENSP00000322249,ORAI3,295,Protein orai-3; Key regulator or component of store-operated Ca(2+) channel and transcription factor NFAT nuclear import; Belongs to the Orai family. 9606.ENSP00000322251,TNNI3K,835,Serine/threonine-protein kinase TNNI3K; May play a role in cardiac physiology. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. 9606.ENSP00000322265,ZNF620,422,Zinc finger protein 620; May be involved in transcriptional regulation. 9606.ENSP00000322273,OLFML3,406,"Olfactomedin-like protein 3; Secreted scaffold protein that plays an essential role in dorsoventral patterning during early development. Stabilizes axial formation by restricting chordin (CHRD) activity on the dorsal side. Acts by facilitating the association between the tolloid proteases and their substrate chordin (CHRD), leading to enhance chordin (CHRD) degradation (By similarity). May have matrix-related function involved in placental and embryonic development, or play a similar role in other physiological processes; Belongs to the OLFML3 family." 9606.ENSP00000322276,VNN2,520,"Vascular non-inflammatory molecule 2; Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil; Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family." 9606.ENSP00000322300,TMTC2,836,"Protein O-mannosyl-transferase TMTC2; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3." 9606.ENSP00000322304,PORCN,461,"Protein-serine O-palmitoleoyltransferase porcupine; Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors." 9606.ENSP00000322316,COQ7,217,"5-demethoxyubiquinone hydroxylase, mitochondrial; Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6- methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone- independent manner." 9606.ENSP00000322323,FAM20C,584,"Extracellular serine/threonine protein kinase FAM20C; Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth. Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome. Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity. Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1. I [...] " 9606.ENSP00000322339,VN1R1,353,Vomeronasal type-1 receptor 1; Putative pheromone receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000322343,CDK20,346,"Cyclin-dependent kinase 20; Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling (By similarity). Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160'." 9606.ENSP00000322361,ZNF236,1847,Zinc finger protein 236; May be involved in transcriptional regulation. 9606.ENSP00000322373,PLEKHF2,249,"Pleckstrin homology domain-containing family F member 2; May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis." 9606.ENSP00000322396,RRS1,365,Ribosome biogenesis regulatory protein homolog; Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus; Belongs to the RRS1 family. 9606.ENSP00000322408,KDM5D,1539,"Lysine-specific demethylase 5D; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Regulates androgen receptor (AR) transcriptional activity [...] " 9606.ENSP00000322421,HBA1,142,Hemoglobin subunit alpha 1. 9606.ENSP00000322439,TUFM,455,"Elongation factor Tu, mitochondrial; Promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Plays also a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIG- I/DDX58-MAVS pathway. In turn, inhibits RLR-mediated type I interferon while promoting autophagy; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily." 9606.ENSP00000322457,SIAH2,324,"E3 ubiquitin-protein ligase SIAH2; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin- mediated degradation of many substrates, including proteins involved in transcription [...] " 9606.ENSP00000322460,SCN4B,228,"Sodium channel subunit beta-4; Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom." 9606.ENSP00000322469,C3orf38,329,Uncharacterized protein C3orf38; May be involved in apoptosis regulation. 9606.ENSP00000322524,DCTPP1,170,dCTP pyrophosphatase 1; Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism. 9606.ENSP00000322532,PELI3,469,E3 ubiquitin-protein ligase pellino homolog 3; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL- 1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation; Belongs to the pellino family. 9606.ENSP00000322545,ZNF543,600,Zinc finger protein 543; May be involved in transcriptional regulation. 9606.ENSP00000322568,SOX11,441,Transcription factor SOX-11; Transcriptional factor involved in the embryonic neurogenesis. May also have a role in tissue modeling during development. 9606.ENSP00000322570,POLE,2286,"DNA polymerase epsilon catalytic subunit A; Catalytic component of the DNA polymerase epsilon complex. Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair. Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) [...] " 9606.ENSP00000322579,PHF23,403,"PHD finger protein 23; Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria." 9606.ENSP00000322582,C4orf17,359,Uncharacterized protein C4orf17; Chromosome 4 open reading frame 17. 9606.ENSP00000322594,RAB39A,217,"Ras-related protein Rab-39A; Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K. May be involved in multiple neurite formation (By similarity); Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000322609,ERICH3,1530,Glutamate-rich protein 3; Glutamate rich 3. 9606.ENSP00000322617,HTR3C,447,"5-hydroxytryptamine receptor 3C; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand- gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel." 9606.ENSP00000322628,ARL4D,201,"ADP-ribosylation factor-like protein 4D; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form." 9606.ENSP00000322640,SPATA31E1,1445,Spermatogenesis-associated protein 31E1; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000322649,SLC25A41,370,Solute carrier family 25 member 41. 9606.ENSP00000322706,HMGCS1,520,"Hydroxymethylglutaryl-CoA synthase, cytoplasmic; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase." 9606.ENSP00000322716,GLYR1,553,Putative oxidoreductase GLYR1; Nucleosome-destabilizing factor that is recruited to genes during transcriptional activation. Facilitates Pol II transcription through nucleosomes. Binds DNA (in vitro). Recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3). Promotes KDM1B demethylase activity. Stimulates the acetylation of 'Lys-56' of nucleosomal histone H3 (H3K56ac) by EP300. Regulates p38 MAP kinase activity by mediating stress activation of p38alpha/MAPK14 and specifically regulating MAPK14 signaling. Indirectly promotes phosphorylation of MAPK14 and activation of ATF2. [...] 9606.ENSP00000322730,ITM2C,267,"Integral membrane protein 2C; Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity)." 9606.ENSP00000322754,OR51S1,323,Olfactory receptor 51S1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000322775,RHBDF2,856,"Inactive rhomboid protein 2; Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. Belongs to the peptidase S54 family." 9606.ENSP00000322784,OR5AK2,309,Olfactory receptor 5AK2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000322788,MMP1,469,"22 kDa interstitial collagenase; Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity." 9606.ENSP00000322801,OR52N2,321,Olfactory receptor 52N2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000322802,TSPYL5,417,Testis-specific Y-encoded-like protein 5; Involved in modulation of cell growth and cellular response to gamma radiation probably via regulation of the Akt signaling pathway. Involved in regulation of p53/TP53. Suppresses p53/TP53 protein levels and promotes its ubiquitination; the function is dependent on USP7 and independent on MDM2. Proposed to displace p53/TP53 from interaction with USP7. 9606.ENSP00000322804,MTSS1,759,"Protein MTSS 1; May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton." 9606.ENSP00000322832,ROGDI,287,Protein rogdi homolog; Rogdi atypical leucine zipper. 9606.ENSP00000322837,TMEM40,233,Transmembrane protein 40. 9606.ENSP00000322845,ZMYM3,1370,Zinc finger MYM-type protein 3; Plays a role in the regulation of cell morphology and cytoskeletal organization. 9606.ENSP00000322885,DTX2,622,"Probable E3 ubiquitin-protein ligase DTX2; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as a ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity; Belongs to the Deltex family." 9606.ENSP00000322898,EBF1,591,Transcription factor COE1; Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. 9606.ENSP00000322899,ZNF843,348,Zinc finger protein 843. 9606.ENSP00000322915,ZMYM4,1548,Zinc finger MYM-type protein 4; Plays a role in the regulation of cell morphology and cytoskeletal organization. 9606.ENSP00000322924,HTR1F,366,"5-hydroxytryptamine receptor 1F; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity." 9606.ENSP00000322937,LRSAM1,723,"E3 ubiquitin-protein ligase LRSAM1; E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos. Bacterial recognition protein that defends the cytoplasm from invasive pathogens. Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy)." 9606.ENSP00000322939,OR56B1,324,Olfactory receptor 56B1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000322956,MFAP3,362,Microfibril-associated glycoprotein 3; Component of the elastin-associated microfibrils. 9606.ENSP00000322991,BCAT2,392,"Branched-chain-amino-acid aminotransferase, mitochondrial; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids." 9606.ENSP00000323036,ACPP,418,"Prostatic acid phosphatase; A non-specific tyrosine phosphatase that dephosphorylates a diverse number of substrates under acidic conditions (pH 4-6) including alkyl, aryl, and acyl orthophosphate monoesters and phosphorylated proteins. Has lipid phosphatase activity and inactivates lysophosphatidic acid in seminal plasma; Belongs to the histidine acid phosphatase family." 9606.ENSP00000323046,EXOSC3,275,"Exosome complex component RRP40; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] " 9606.ENSP00000323047,MTG1,334,Mitochondrial ribosome-associated GTPase 1; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity; Belongs to the TRAFAC class YlqF/YawG GTPase family. MTG1 subfamily. 9606.ENSP00000323063,EIF2S3B,466,Eukaryotic translation initiation factor 2 subunit gamma B. 9606.ENSP00000323065,GADD45GIP1,222,Growth arrest and DNA damage-inducible proteins-interacting protein 1; Acts as a negative regulator of G1 to S cell cycle phase progression by inhibiting cyclin-dependent kinases. Inhibitory effects are additive with GADD45 proteins but occurs also in the absence of GADD45 proteins. Acts as a repressor of the orphan nuclear receptor NR4A1 by inhibiting AB domain-mediated transcriptional activity. May be involved in the hormone-mediated regulation of NR4A1 transcriptional activity. May play a role in mitochondrial protein synthesis; Belongs to the mitochondrion-specific ribosomal protei [...] 9606.ENSP00000323068,TMEM168,697,Transmembrane protein 168; Belongs to the TMEM168 family. 9606.ENSP00000323071,ACOT4,421,"Peroxisomal succinyl-coenzyme A thioesterase; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. ACOT4 is a peroxisomal succinyl-coenzyme A thioesterase can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs." 9606.ENSP00000323074,RAI1,1906,"Retinoic acid-induced protein 1; Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation." 9606.ENSP00000323076,NDUFAF3,184,NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3; Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). 9606.ENSP00000323096,AMIGO3,504,Amphoterin-induced protein 3; May mediate heterophilic cell-cell interaction. May contribute to signal transduction through its intracellular domain (By similarity). 9606.ENSP00000323099,ATRIP,791,"ATR-interacting protein; Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein. Belongs to the ATRIP family." 9606.ENSP00000323148,ZKSCAN1,563,Zinc finger protein with KRAB and SCAN domains 1; May be involved in transcriptional regulation. 9606.ENSP00000323155,DAND5,189,"DAN domain family member 5; Seems to play a role in the correct specification of the left-right axis. May antagonize NODAL and BMP4 signaling. Cystine knot- containing proteins play important roles during development, organogenesis, tissue growth and differentiation (By similarity). Belongs to the DAN family." 9606.ENSP00000323183,ZBTB2,514,Zinc finger and BTB domain-containing protein 2; May be involved in transcriptional regulation. 9606.ENSP00000323191,SAGE1,904,Sarcoma antigen 1. 9606.ENSP00000323217,GOLGA8R,631,Golgin A8 family member R. 9606.ENSP00000323246,E2F7,911,"Transcription factor E2F7; Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5'-TTCCCGCC-3' and mediating repression of G1/S-regulated genes. Plays a key role in po [...] " 9606.ENSP00000323264,MARVELD2,558,"MARVEL domain-containing protein 2; Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti." 9606.ENSP00000323275,DNAAF4,420,"Dynein assembly factor 4, axonemal; Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity." 9606.ENSP00000323280,CD6,668,T-cell differentiation antigen CD6; Cell adhesion molecule that mediates cell-cell contacts and regulates T-cell responses via its interaction with ALCAM/CD166. Contributes to signaling cascades triggered by activation of the TCR/CD3 complex. Functions as costimulatory molecule; promotes T-cell activation and proliferation. Contributes to the formation and maturation of the immunological synapse. Functions as calcium- dependent pattern receptor that binds and aggregates both Gram-positive and Gram-negative bacteria. Binds both lipopolysaccharide (LPS) from Gram-negative bacteria and li [...] 9606.ENSP00000323288,RPUSD2,545,RNA pseudouridine synthase domain containing 2. 9606.ENSP00000323300,SPAG5,1193,"Sperm-associated antigen 5; Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase. Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. In complex with SKAP, promotes stable microtubule- kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes. Involved in centriole duplication. Required for C [...] " 9606.ENSP00000323302,POC1B,478,"POC1 centriolar protein homolog B; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity. Belongs to the WD repeat POC1 family." 9606.ENSP00000323304,LSMEM1,131,Leucine rich single-pass membrane protein 1. 9606.ENSP00000323313,PDIA5,519,Protein disulfide-isomerase A5; Protein disulfide isomerase family A member 5. 9606.ENSP00000323328,SIGLEC7,467,"Sialic acid-binding Ig-like lectin 7; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- and alpha-2,6-linked sialic acid. Also binds disialogangliosides (disialogalactosyl globoside, disialyl lactotetraosylceramide and disialyl GalNAc lactotetraoslylceramide). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their [...] " 9606.ENSP00000323348,CBLL2,425,E3 ubiquitin-protein ligase CBLL2; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. May operate on tyrosine-phosphorylated SRC substrates. 9606.ENSP00000323354,OR5M8,311,Olfactory receptor 5M8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000323355,FAM187B,369,Protein FAM187B; Family with sequence similarity 187 member B. 9606.ENSP00000323421,SMC1A,1233,"Structural maintenance of chromosomes protein 1A; Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interacti [...] " 9606.ENSP00000323424,ISG20L2,353,Interferon-stimulated 20 kDa exonuclease-like 2; 3'-> 5'-exoribonuclease involved in ribosome biogenesis in the processing of the 12S pre-rRNA. Displays a strong specificity for a 3'-end containing a free hydroxyl group. 9606.ENSP00000323435,SNX22,193,Sorting nexin-22; May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)); Belongs to the sorting nexin family. 9606.ENSP00000323455,TPRX1,411,Tetrapeptide repeat homeobox 1. 9606.ENSP00000323511,PNKP,521,"Bifunctional polynucleotide phosphatase/kinase; Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone." 9606.ENSP00000323516,UTS2R,389,Urotensin-2 receptor; High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system. 9606.ENSP00000323527,MKLN1,735,Muskelin; Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1. 9606.ENSP00000323549,SLC6A18,628,Inactive sodium-dependent neutral amino acid transporter B(0)AT3; Does not show neutral amino acid transporter activity. 9606.ENSP00000323568,SLC2A2,524,"Solute carrier family 2, facilitated glucose transporter member 2; Facilitative hexose transporter that mediates the transport of glucose and fructose. Likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney. Also able to mediate the transport of dehydroascorbate. Belongs to the major fac [...] " 9606.ENSP00000323580,IFT88,833,Intraflagellar transport protein 88 homolog; Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment. 9606.ENSP00000323587,ITLN1,313,"Intelectin-1; Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner. Binds to microbial glycans that contain a terminal acyclic 1,2-diol moiety, including beta-linked D-galactofuranose (beta- Galf), D-phosphoglycerol-modified glycans, D-glycero-D-talo-oct-2- ulosonic acid (KO) and 3-deoxy-D-manno-oct-2-ulosonic acid (KDO). Binds to glycans from Gram-positive and Gram- negative bacteria, including K.pneumoniae, S.pneumoniae, Y.pestis, P.mirabilis and P.vulgaris. Does not bind human glycans. Probably plays a role in the defense system against mic [...] " 9606.ENSP00000323588,SOX2,317,"Transcription factor SOX-2; Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differen [...] " 9606.ENSP00000323635,FAM210A,272,Protein FAM210A; May play a role in the structure and strength of both muscle and bone. 9606.ENSP00000323645,TTC39C,583,Tetratricopeptide repeat domain 39C. 9606.ENSP00000323663,DBF4B,615,Protein DBF4 homolog B; Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S and M phases. The complex CDC7-DBF4B selectively phosphorylates MCM2 subunit at 'Ser-40' and then is involved in regulating the initiation of DNA replication during cell cycle. 9606.ENSP00000323670,ZBTB7A,584,"Zinc finger and BTB domain-containing protein 7A; Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation. Directly and specifically binds to the consensus sequence 5'-[GA][CA]GACCCCCCCCC-3' and represses transcription both by regulating the organization of chromatin and through the direct recruitment of transcription factors to gene regulatory regions. Negatively regulates SMAD4 transcriptional activity in the TGF-beta signaling pathway through these two mechanisms. That is, recruits the chromatin regulator HDAC [...] " 9606.ENSP00000323678,ZADH2,377,"Prostaglandin reductase 3; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest efficiency towards 15-keto-PGE2-alpha. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation." 9606.ENSP00000323687,UBE2O,1292,"(E3-independent) E2 ubiquitin-conjugating enzyme; E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins. Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity. Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis. Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chrom [...] " 9606.ENSP00000323688,OR5T2,359,Olfactory receptor 5T2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000323696,CRTAP,401,Cartilage-associated protein; Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues; Belongs to the leprecan family. 9606.ENSP00000323720,MED14,1454,"Mediator of RNA polymerase II transcription subunit 14; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000323740,UCP3,312,"Mitochondrial uncoupling protein 3; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance; Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000323782,CCDC43,224,Coiled-coil domain containing 43; Belongs to the CCDC43 family. 9606.ENSP00000323795,TEX35,233,Testis-expressed protein 35; Testis expressed 35. 9606.ENSP00000323811,HACL1,578,2-hydroxyacyl-CoA lyase 1; Catalyzes a carbon-carbon cleavage reaction; cleaves a 2- hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde; Belongs to the TPP enzyme family. 9606.ENSP00000323816,AHRR,719,"Aryl hydrocarbon receptor repressor; Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site." 9606.ENSP00000323821,GVQW3,254,Protein GVQW3; GVQW motif containing 3. 9606.ENSP00000323847,ARL14,192,ADP-ribosylation factor-like protein 14; GTPase that recruits MYO1E to MHC class II-containing vesicles via the effector protein ARL14EP and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells. 9606.ENSP00000323853,OR8K5,307,Olfactory receptor 8K5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000323856,PLEC,4684,"Plectin; Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity." 9606.ENSP00000323858,DDX54,882,ATP-dependent RNA helicase DDX54; Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors. 9606.ENSP00000323867,PRKAG1,340,"5'-AMP-activated protein kinase subunit gamma-1; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a [...] " 9606.ENSP00000323872,P2RY11,374,P2Y purinoceptor 11; Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP. 9606.ENSP00000323879,ZNRF2,242,E3 ubiquitin-protein ligase ZNRF2; May play a role in the establishment and maintenance of neuronal transmission and plasticity via its ubiquitin ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. 9606.ENSP00000323880,FOXJ1,421,"Forkhead box protein J1; Transcription factor specifically required for the formation of motile cilia. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung. Belongs to the FOXJ1 family." 9606.ENSP00000323889,TRIM25,630,"E3 ubiquitin/ISG15 ligase TRIM25; Functions as a ubiquitin E3 ligase and as an ISG15 E3 ligase. Involved in innate immune defense against viruses by mediating ubiquitination of DDX58 and IFIH1. Mediates 'Lys-63'-linked polyubiquitination of the DDX58 N-terminal CARD-like region and may play a role in signal transduction that leads to the production of interferons in response to viral infection. Mediates 'Lys-63'- linked polyubiquitination of IFIH1. Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway. Mediates [...] " 9606.ENSP00000323901,FZD2,565,"Frizzled-2; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to i [...] " 9606.ENSP00000323913,TRIM55,548,Tripartite motif-containing protein 55; May regulate gene expression and protein turnover in muscle cells. 9606.ENSP00000323926,TRPM8,1104,"Transient receptor potential cation channel subfamily M member 8; Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of it [...] " 9606.ENSP00000323927,PLXDC1,500,Plexin domain-containing protein 1; Plays a critical role in endothelial cell capillary morphogenesis. 9606.ENSP00000323928,OR8H3,312,Olfactory receptor 8H3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000323929,A2M,1474,"Alpha-2-macroglobulin; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the c [...] " 9606.ENSP00000323945,ZNF771,317,Zinc finger protein 771; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000323967,SMARCE1,411,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). Du [...] " 9606.ENSP00000323978,CRIPAK,446,Cysteine-rich PAK1 inhibitor; Negative regulator of PAK1. It has been suggested that the lost of CRIPAK in breast tumors might contribute to hormonal independence. 9606.ENSP00000324020,KIF15,1388,Kinesin-like protein KIF15; Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KLP2 subfamily. 9606.ENSP00000324056,ZNF48,618,Zinc finger protein 48; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000324064,ZNF354C,554,"Zinc finger protein 354C; May function as a transcription repressor. Binds to 5'-CCACA- 3' core sequence. Suppresses osteogenic effects of RUNX2. May be involved in osteoblastic differentiation (By similarity). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity)." 9606.ENSP00000324101,CD151,253,CD151 antigen; Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. 9606.ENSP00000324105,ENO3,434,Beta-enolase; Appears to have a function in striated muscle development and regeneration; Belongs to the enolase family. 9606.ENSP00000324122,PRPF31,499,"U4/U6 small nuclear ribonucleoprotein Prp31; Involved in pre-mRNA splicing as component of the spliceosome. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome." 9606.ENSP00000324124,POLR2L,67,"DNA-directed RNA polymerases I, II, and III subunit RPABC5; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of [...] " 9606.ENSP00000324127,PSD3,1047,PH and SEC7 domain-containing protein 3; Guanine nucleotide exchange factor for ARF6. 9606.ENSP00000324173,HSPA5,654,"Endoplasmic reticulum chaperone BiP; Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen. Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate (By similarity). Acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to disrupt the dimeriz [...] " 9606.ENSP00000324175,MAMSTR,415,"MEF2-activating motif and SAP domain-containing transcriptional regulator; Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity)." 9606.ENSP00000324191,KCNRG,272,Potassium channel regulatory protein; Inhibits potassium fluxes in cells. May regulate Kv1 family channel proteins by retaining a fraction of channels in endomembranes. 9606.ENSP00000324196,AATK,1374,Serine/threonine-protein kinase LMTK1; May be involved in neuronal differentiation. Belongs to the protein kinase superfamily. Tyr protein kinase family. 9606.ENSP00000324203,WRAP53,548,"Telomerase Cajal body protein 1; RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies. Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex. Acts by specifically b [...] " 9606.ENSP00000324204,MTURN,131,Maturin; Promotes megakaryocyte differentiation by enhancing ERK and JNK signaling as well as up-regulating RUNX1 and FLI1 expression. Represses NF-kappa-B transcriptional activity by inhibiting phosphorylation of RELA at 'Ser-536'. May be involved in early neuronal development (By similarity). Belongs to the MTURN family. 9606.ENSP00000324270,OXTR,389,Oxytocin receptor; Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. 9606.ENSP00000324277,APOLD1,279,Apolipoprotein L domain-containing protein 1; May be involved in angiogenesis. May play a role in activity- dependent changes of brain vasculature. May affect blood-brain permeability. 9606.ENSP00000324287,ACAP2,778,"Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2; GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6)." 9606.ENSP00000324302,STXBP6,210,Syntaxin-binding protein 6; Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis. 9606.ENSP00000324318,TRAPPC12,735,"Trafficking protein particle complex subunit 12; Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores." 9606.ENSP00000324323,TCTEX1D2,142,Tctex1 domain-containing protein 2; Required for proper retrograde ciliary transport. Belongs to the dynein light chain Tctex-type family. 9606.ENSP00000324343,UPB1,384,"Beta-ureidopropionase; Catalyzes a late step in pyrimidine degradation. Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide. Likewise, converts N-carbamoyl-beta- aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable). Belongs to the carbon-nitrogen hydrolase superfamily. BUP family." 9606.ENSP00000324403,PHF21B,531,PHD finger protein 21B. 9606.ENSP00000324404,TCHP,498,Trichoplein keratin filament-binding protein; Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells. Is a negative regulator of ciliogenesis ; Belongs to the TCHP family. 9606.ENSP00000324419,SYT9,491,Synaptotagmin-9; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. 9606.ENSP00000324422,ZYX,572,Zyxin; Adhesion plaque protein. Binds alpha-actinin and the CRP protein. Important for targeting TES and ENA/VASP family members to focal adhesions and for the formation of actin-rich structures. May be a component of a signal transduction pathway that mediates adhesion- stimulated changes in gene expression (By similarity); Belongs to the zyxin/ajuba family. 9606.ENSP00000324463,YLPM1,2146,YLP motif-containing protein 1; Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation. 9606.ENSP00000324510,BAIAP3,1187,"BAI1-associated protein 3; Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans- Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters [...] " 9606.ENSP00000324511,SEPTIN1,414,Septin-1; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. 9606.ENSP00000324527,MYO1D,1006,"Unconventional myosin-Id; Unconventional myosin that functions as actin-based motor protein with ATPase activity (By similarity). Plays a role in endosomal protein trafficking, and especially in the transfer of cargo proteins from early to recycling endosomes (By similarity). Required for normal planar cell polarity in ciliated tracheal cells, for normal rotational polarity of cilia, and for coordinated, unidirectional ciliary movement in the trachea. Required for normal, polarized cilia organization in brain ependymal epithelial cells (By similarity). Belongs to the TRAFAC class myosi [...] " 9606.ENSP00000324532,LAMA3,3333,"Laminin subunit alpha-3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000324534,OR14C36,312,Olfactory receptor 14C36; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000324557,OR2M7,312,Olfactory receptor 2M7; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000324560,ULK1,1050,"Serine/threonine-protein kinase ULK1; Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leadi [...] " 9606.ENSP00000324573,FLII,1269,"Protein flightless-1 homolog; May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation." 9606.ENSP00000324587,FAM193A,1265,Protein FAM193A; Family with sequence similarity 193 member A; Belongs to the FAM193 family. 9606.ENSP00000324598,ZNF540,660,Zinc finger protein 540; May act as a transcriptional repressor. 9606.ENSP00000324605,ZNF660,331,Zinc finger protein 660; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000324628,NAPG,312,Gamma-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus; Belongs to the SNAP family. 9606.ENSP00000324633,DEFB103B,67,Defensin beta 103B. 9606.ENSP00000324648,CYP2B6,491,"Cytochrome P450 2B6; A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids and steroids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH-- hemoprotein reductase). Catalyzes the epoxidation of double bonds of arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15- epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling. Hydroxylates steroid hormon [...] " 9606.ENSP00000324651,TMEM108,575,"Transmembrane protein 108; Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is necessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport. In hippocampal neurons, required for BDNF-dependent dendrit [...] " 9606.ENSP00000324672,C16orf89,402,UPF0764 protein C16orf89; Chromosome 16 open reading frame 89; Belongs to the UPF0764 family. 9606.ENSP00000324693,GRHL1,618,"Grainyhead-like protein 1 homolog; Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3'. Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity). [Isoform 2]: May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed." 9606.ENSP00000324701,MAB21L2,359,Protein mab-21-like 2; Required for several aspects of embryonic development including normal development of the eye; Belongs to the mab-21 family. 9606.ENSP00000324729,SAV1,383,"Protein salvador homolog 1; Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleu [...] " 9606.ENSP00000324741,MAP11,580,Microtubule-associated protein 11; Microtubule associated protein wich seems to play a role in spindle dynamics and cell division. Modulates YAP1 activity as transcriptional regulator. 9606.ENSP00000324763,WFIKKN1,548,"WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1; Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease- inhibitor activity (By similarity)." 9606.ENSP00000324792,NFATC2IP,419,"NFATC2-interacting protein; In T-helper 2 (Th2) cells, regulates the magnitude of NFAT- driven transcription of a specific subset of cytokine genes, including IL3, IL4, IL5 and IL13, but not IL2. Recruits PRMT1 to the IL4 promoter; this leads to enhancement of histone H4 'Arg-3'-methylation and facilitates subsequent histone acetylation at the IL4 locus, thus promotes robust cytokine expression (By similarity). Down-regulates formation of poly-SUMO chains by UBE2I/UBC9 (By similarity)." 9606.ENSP00000324804,PPP2R1A,589,Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform; The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT. Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis. 9606.ENSP00000324806,GSK3B,433,"Glycogen synthase kinase-3 beta; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glyc [...] " 9606.ENSP00000324810,MVB12A,273,"Multivesicular body subunit 12A; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down-regulation of EGF receptor." 9606.ENSP00000324827,AKAP17A,695,A-kinase anchor protein 17A; Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner. 9606.ENSP00000324842,AACS,672,Acetoacetyl-CoA synthetase; Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family. 9606.ENSP00000324856,STK11,433,"Serine/threonine-protein kinase STK11; Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP [...] " 9606.ENSP00000324857,SEMA6D,1073,"Semaphorin-6D; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections; Belongs to the semaphorin family." 9606.ENSP00000324890,CD28,220,"T-cell-specific surface glycoprotein CD28; Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival. Enhances the production of IL4 and IL10 in T-cells in conjunction with TCR/CD3 ligation and CD40L costimulation. Isoform 3 enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells." 9606.ENSP00000324901,IQCK,287,IQ motif containing K. 9606.ENSP00000324920,C14orf39,587,Protein SIX6OS1; Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation. 9606.ENSP00000324944,MBOAT1,495,"Lysophospholipid acyltransferase 1; Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L- serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle." 9606.ENSP00000324956,RNF14,474,"E3 ubiquitin-protein ligase RNF14; Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription; Belongs to the RBR family. RNF14 subfamily." 9606.ENSP00000324958,OR4C15,370,Olfactory receptor 4C15; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000324960,CABP4,275,"Calcium-binding protein 4; Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity)." 9606.ENSP00000325002,COPG1,874,"Coatomer subunit gamma-1; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also i [...] " 9606.ENSP00000325017,NCAPD2,1401,"Condensin complex subunit 1; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. May target the condensin complex to DNA via its C-terminal domain. May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely in [...] " 9606.ENSP00000325018,ZNF569,686,Zinc finger protein 569; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000325065,OR4A15,344,Olfactory receptor 4A15; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000325074,PPP2R2A,457,"Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment." 9606.ENSP00000325078,OR2AJ1,328,Olfactory receptor 2AJ1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000325091,LRCH2,765,Leucine-rich repeat and calponin homology domain-containing protein 2; May play a role in the organization of the cytoskeleton. 9606.ENSP00000325120,PGR,933,"Progesterone receptor; The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Depending on the isoform, progesterone receptor functions as transcriptional activator or repressor. [Isoform B]: Transcriptional activator of several progesteron-dependent promoters in a variety of cell types. Involved in activation of SRC-dependent MAPK signaling on hormone stimulation." 9606.ENSP00000325128,OR4A16,328,Olfactory receptor 4A16; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000325136,HADHB,474,"Trifunctional enzyme subunit beta, mitochondrial; Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway. The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA. Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long- chain fatty acids. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional en [...] " 9606.ENSP00000325146,COL12A1,3063,"Collagen alpha-1(XII) chain; Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family." 9606.ENSP00000325203,OR6T1,323,Olfactory receptor 6T1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000325239,MYLPF,169,"Myosin light chain, phosphorylatable, fast skeletal muscle." 9606.ENSP00000325240,LASP1,261,"LIM and SH3 domain protein 1; Plays an important role in the regulation of dynamic actin- based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity)." 9606.ENSP00000325266,TTC9C,171,Tetratricopeptide repeat domain 9C; Belongs to the TTC9 family. 9606.ENSP00000325285,MTMR4,1195,"Myotubularin-related protein 4; Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para- nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5- trisphosphate (PIP3); Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily." 9606.ENSP00000325290,HASPIN,798,"Serine/threonine-protein kinase haspin; Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle." 9606.ENSP00000325296,PKD2L1,805,"Polycystic kidney disease 2-like 1 protein; Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+). Pore-forming subunit of a calcium- permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration. The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription. Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cell [...] " 9606.ENSP00000325301,CDPF1,123,Cysteine rich DPF motif domain containing 1. 9606.ENSP00000325312,METAP2,478,"Methionine aminopeptidase 2; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met- Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo; Belongs to the peptidase M24A family. Methionine aminopeptidase eukaryotic typ [...] " 9606.ENSP00000325313,MAP1S,1059,Microtubule-associated protein 1S; Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity); Belongs to the MAP1 family. 9606.ENSP00000325326,ZNF335,1342,"Zinc finger protein 335; Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters. Enhances ligand- dependent transcriptional activation by nuclear hormone receptors. Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST. Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation." 9606.ENSP00000325355,CASKIN2,1202,Caskin-2; CASK interacting protein 2. 9606.ENSP00000325369,AP3S1,193,"AP-3 complex subunit sigma-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Belongs to the adaptor complexes small subunit family." 9606.ENSP00000325376,HNRNPM,730,"Heterogeneous nuclear ribonucleoprotein M; Pre-mRNA binding protein in vivo, binds avidly to poly(G) and poly(U) RNA homopolymers in vitro. Involved in splicing. Acts as a receptor for carcinoembryonic antigen in Kupffer cells, may initiate a series of signaling events leading to tyrosine phosphorylation of proteins and induction of IL-1 alpha, IL-6, IL-10 and tumor necrosis factor alpha cytokines." 9606.ENSP00000325377,WDR33,1336,pre-mRNA 3' end processing protein WDR33; Essential for both cleavage and polyadenylation of pre-mRNA 3' ends. 9606.ENSP00000325398,TPRKB,214,EKC/KEOPS complex subunit TPRKB; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification. 9606.ENSP00000325402,MYPOP,399,"Myb-related transcription factor, partner of profilin; Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5'-YAAC[GT]G-3'. Dimerization with PFN1 reduces its DNA-binding capacity (By similarity)." 9606.ENSP00000325421,PARL,379,"Presenilins-associated rhomboid-like protein, mitochondrial; Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP). Promotes changes in mitochondria morphology regulated by phosphorylation of P- beta domain." 9606.ENSP00000325425,MAT2B,334,"Methionine adenosyltransferase 2 subunit beta; Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine. Can bind NADP (in vitro)." 9606.ENSP00000325448,KARS1,625,"Lysine--tRNA ligase; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity." 9606.ENSP00000325485,CERS5,392,"Ceramide synthase 5; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor. Can use other acyl donors, but with less efficiency (By similarity)." 9606.ENSP00000325508,C11orf71,147,Uncharacterized protein C11orf71; Chromosome 11 open reading frame 71. 9606.ENSP00000325525,KIR3DL2,455,"Killer cell immunoglobulin-like receptor 3DL2; Receptor on natural killer (NK) cells and T cells for MHC class I molecules. Upon binding of peptide-free HLA-F open conformer, negatively regulates NK and T cell effector functions. Acts as a receptor on astrocytes for HLA-F. Through interaction with HLA-F, may protect motor neurons from astrocyte-induced toxicity. Belongs to the immunoglobulin superfamily." 9606.ENSP00000325526,WNT11,354,Protein Wnt-11; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. 9606.ENSP00000325527,FBN1,2871,"Fibrillin-1; [Fibrillin-1]: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus [...] " 9606.ENSP00000325546,PLAG1,500,"Zinc finger protein PLAG1; Transcription factor whose activation results in up- regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepat [...] " 9606.ENSP00000325548,CNDP2,475,"Cytosolic non-specific dipeptidase; Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly. Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation. Isoform 2 may play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells. Catalyzes the production of N-lactoyl-amino acids from lactate [...] " 9606.ENSP00000325561,TMC8,726,Transmembrane channel-like protein 8; Probable ion channel; Belongs to the TMC family. 9606.ENSP00000325562,MICOS10,78,"MICOS complex subunit MIC10; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane." 9606.ENSP00000325564,SYCN,134,Syncollin; Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity). 9606.ENSP00000325589,PTPRCAP,206,Protein tyrosine phosphatase receptor type C associated protein. 9606.ENSP00000325594,RUFY1,708,RUN and FYVE domain-containing protein 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking. 9606.ENSP00000325612,MED16,877,"Mediator of RNA polymerase II transcription subunit 16; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000325634,ZNF639,485,Zinc finger protein 639; Binds DNA and may function as a transcriptional repressor. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000325638,PRM3,103,"Protamine-3; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex (By similarity)." 9606.ENSP00000325655,CHCHD5,110,Coiled-coil-helix-coiled-coil-helix domain containing 5. 9606.ENSP00000325663,NFKBIZ,718,"NF-kappa-B inhibitor zeta; Involved in regulation of NF-kappa-B transcription factor complexes. Inhibits NF-kappa-B activity without affecting its nuclear translocation upon stimulation. Inhibits DNA-binding of RELA and NFKB1/p50, and of the NF-kappa-B p65-p50 heterodimer and the NF-kappa-B p50-p50 homodimer. Seems also to activate NF-kappa-B-mediated transcription. In vitro, upon association with NFKB1/p50 has transcriptional activation activity and, together with NFKB1/p50 and RELA, is recruited to LCN2 promoters. Promotes transcription of LCN2 and DEFB4. Is recruited to IL-6 promote [...] " 9606.ENSP00000325674,EXOC3L1,746,"Exocyst complex component 3-like protein; As part of the exocyst, may play a role in regulated exocytosis of insulin granules." 9606.ENSP00000325677,RNF40,1001,"E3 ubiquitin-protein ligase BRE1B; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradic [...] " 9606.ENSP00000325681,CCZ1,482,"CCZ1 homolog, vacuolar protein trafficking and biogenesis associated." 9606.ENSP00000325690,CARM1,608,"Histone-arginine methyltransferase CARM1; Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at 'Arg-17' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/TCF4 activa [...] " 9606.ENSP00000325708,CD37,281,Leukocyte antigen CD37; CD37 molecule. 9606.ENSP00000325738,TNP2,138,"Nuclear transition protein 2; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction." 9606.ENSP00000325748,STK25,426,"Serine/threonine-protein kinase 25; Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily." 9606.ENSP00000325775,GJC3,279,"Gap junction gamma-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Gamma-type subfamily." 9606.ENSP00000325776,SERTM1,107,Serine rich and transmembrane domain containing 1. 9606.ENSP00000325785,SPECC1L,1117,Cytospin-A; Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration. 9606.ENSP00000325808,LRRN4CL,238,LRRN4 C-terminal-like protein; LRRN4 C-terminal like. 9606.ENSP00000325819,NR2F1,423,"COUP transcription factor 1; Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG." 9606.ENSP00000325822,CYP11B2,503,"Cytochrome P450 11B2, mitochondrial; A cytochrome P450 monooxygenase that catalyzes the biosynthesis of adrenal mineralocorticoid aldosterone. Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone/21- hydroxyprogesterone, namely 11-beta hydroxylation followed with two successive oxidations at C18 to yield 18-hydroxy and then 18-aldehyde derivatives, resulting in the formation of aldosterone. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-pro [...] " 9606.ENSP00000325827,SEC16A,2357,"Protein transport protein Sec16A; Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. Mediates the recruitment of MIA3/TANGO to ERES. Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell mem [...] " 9606.ENSP00000325836,DIRAS1,198,GTP-binding protein Di-Ras1; Displays low GTPase activity and exists predominantly in the GTP-bound form. 9606.ENSP00000325863,MRE11,708,"Double-strand break repair protein MRE11; Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or rest [...] " 9606.ENSP00000325868,ODF3,254,Outer dense fiber protein 3; Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. May help to maintain the passive elastic structures and elastic recoil of the sperm tail. 9606.ENSP00000325895,ANKDD1A,522,Ankyrin repeat and death domain containing 1A. 9606.ENSP00000325905,SRSF7,238,Serine/arginine-rich splicing factor 7; Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1- NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA- binding activity. RNA-binding is semi-sequence specific. 9606.ENSP00000325917,PCSK7,785,"Proprotein convertase subtilisin/kexin type 7; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway." 9606.ENSP00000325919,PSMG2,264,"Proteasome assembly chaperone 2; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization." 9606.ENSP00000325929,LNX2,690,Ligand of numb-protein X 2. 9606.ENSP00000325941,RIC8A,537,"Synembryn-A; Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)- alpha-GDP complex (By similarity). Also acts as an activator for G(q)- alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation." 9606.ENSP00000325954,CDHR3,885,Cadherin-related family member 3; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000325958,PTPMT1,201,"Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1; Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG) (By similarity). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle (By similarity). Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production [...] " 9606.ENSP00000325978,LRRC31,552,Leucine-rich repeat-containing protein 31; Leucine rich repeat containing 31. 9606.ENSP00000326003,PUS10,529,"Putative tRNA pseudouridine synthase Pus10; Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death." 9606.ENSP00000326018,PRX,1461,"Periaxin; Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. [...] " 9606.ENSP00000326022,FHL5,284,Four and a half LIM domains protein 5; May be involved in the regulation of spermatogenesis. Stimulates CREM transcriptional activity in a phosphorylation- independent manner. 9606.ENSP00000326031,PPP1CA,341,"Serine/threonine-protein phosphatase PP1-alpha catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin de [...] " 9606.ENSP00000326042,TUBA3D,450,"Detyrosinated tubulin alpha-3C chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000326052,COX14,57,"Cytochrome c oxidase assembly protein COX14; Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1." 9606.ENSP00000326063,TMEM39A,488,Transmembrane protein 39A; Belongs to the TMEM39 family. 9606.ENSP00000326070,SLC41A3,507,Solute carrier family 41 member 3. 9606.ENSP00000326095,RNF166,237,"E3 ubiquitin-protein ligase RNF166; E3 ubiquitin-protein ligase that promotes the ubiquitination of different substrates. In turn, participates in different biological processes including interferon production or autophagy. Plays a role in the activation of RNA virus-induced interferon-beta production by promoting the ubiquitination of TRAF3 and TRAF6. Plays also a role in the early recruitment of autophagy adapters to bacteria. Mediates 'Lys-29' and 'Lys-33'-linked ubiquitination of SQSTM1 leading to xenophagic targeting of bacteria and inhibition of their replication." 9606.ENSP00000326110,C5orf30,206,"Macrophage immunometabolism regulator; Regulates the macrophage function, by enhancing the resolution of inflammation and wound repair functions mediated by M2 macrophages. The regulation of macrophage function is, due at least in part, to its ability to inhibit glycolysis. May also play a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B. May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photorecept [...] " 9606.ENSP00000326119,PMAIP1,54,Phorbol-12-myristate-13-acetate-induced protein 1; Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1. Belongs to the PMAIP1 family. 9606.ENSP00000326128,LARP4B,738,La-related protein 4B; Stimulates mRNA translation. 9606.ENSP00000326159,KLK4,254,Kallikrein-4; Has a major role in enamel formation. Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity). 9606.ENSP00000326170,RFFL,363,"E3 ubiquitin-protein ligase rififylin; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates 'Lys-48'-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor ne [...] " 9606.ENSP00000326200,ZBTB11,1053,Zinc finger and BTB domain-containing protein 11; May be involved in transcriptional regulation. 9606.ENSP00000326219,DHRS4,278,"Dehydrogenase/reductase SDR family member 4; Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co-factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha- dicarbonyl compounds with aromatic rings, such as pyrimidine-4- aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4- hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity); Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000326227,GANC,914,Neutral alpha-glucosidase C; Has alpha-glucosidase activity. Belongs to the glycosyl hydrolase 31 family. 9606.ENSP00000326232,OR52D1,318,Olfactory receptor 52D1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000326238,CAPZA3,299,"F-actin-capping protein subunit alpha-3; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the morphogenesis of spermatid (By similarity)." 9606.ENSP00000326240,MYNN,610,Myoneurin. 9606.ENSP00000326244,TMEM151A,468,Transmembrane protein 151A. 9606.ENSP00000326247,SAMD9L,1584,Sterile alpha motif domain-containing protein 9-like; May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors. 9606.ENSP00000326249,ZNF454,522,Zinc finger protein 454; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000326253,RTBDN,261,Retbindin; Riboflavin-binding protein which might have a role in retinal flavin transport. 9606.ENSP00000326261,SRRM1,904,"Serine/arginine repetitive matrix protein 1; Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3'-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with lo [...] " 9606.ENSP00000326267,EFCAB11,163,EF-hand calcium-binding domain-containing protein 11; EF-hand calcium binding domain 11. 9606.ENSP00000326272,FOXL1,345,Forkhead box protein L1; Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity). 9606.ENSP00000326301,OR2G3,309,Olfactory receptor 2G3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000326305,SLC25A20,301,Mitochondrial carnitine/acylcarnitine carrier protein; Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. 9606.ENSP00000326309,DEFB124,71,Beta-defensin 124; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000326324,LRRC37A,1700,Leucine-rich repeat-containing protein 37A; Leucine rich repeat containing 37A. 9606.ENSP00000326340,ATG16L2,619,Autophagy-related protein 16-2; May play a role in autophagy. 9606.ENSP00000326342,ELMOD2,293,"ELMO domain-containing protein 2; Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses." 9606.ENSP00000326349,OR2G2,317,Olfactory receptor 2G2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000326366,PSEN1,467,"Presenilin-1 CTF subunit; Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity. Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Stimulates cell-cell adhesion via its interaction with CDH1; this stabili [...] " 9606.ENSP00000326381,EIF4A2,407,"Eukaryotic initiation factor 4A-II; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon; Belongs to the DEAD box helicase family. eIF4A subfamily." 9606.ENSP00000326407,CLEC1A,280,C-type lectin domain family 1 member A. 9606.ENSP00000326411,CWF19L1,538,CWF19-like protein 1; CWF19 like cell cycle control factor 1. 9606.ENSP00000326424,NADSYN1,706,Glutamine-dependent NAD(+) synthetase; Catalyzes the ATP-dependent amidation of deamido-NAD to form NAD. Uses L-glutamine as a nitrogen source. 9606.ENSP00000326432,CCR8,355,C-C chemokine receptor type 8; Receptor for the chemokine CCL1/SCYA1/I-309. May regulate monocyte chemotaxis and thymic cell line apoptosis. Alternative coreceptor with CD4 for HIV-1 infection. 9606.ENSP00000326445,SHISA3,238,Protein shisa-3 homolog; Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling. 9606.ENSP00000326491,ABHD1,405,Protein ABHD1; Abhydrolase domain containing 1; Belongs to the AB hydrolase superfamily. AB hydrolase 4 family. 9606.ENSP00000326519,PAGR1,254,"PAXIP1-associated glutamate-rich protein 1; Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex. However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switchin [...] " 9606.ENSP00000326531,THOC6,341,"THO complex subunit 6 homolog; Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap- dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essentia [...] " 9606.ENSP00000326550,TACC3,838,Transforming acidic coiled-coil-containing protein 3; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch- TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter- microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. May be involved in the control of cell [...] 9606.ENSP00000326563,KDM3B,1761,"Lysine-specific demethylase 3B; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity." 9606.ENSP00000326570,FKRP,495,"Fukutin-related protein; Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4- (phosphate-6-)mannose), a carbohydrate structure present in alpha- dystroglycan (DAG1). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O- mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1." 9606.ENSP00000326581,PEG3,1588,Paternally-expressed gene 3 protein; Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000326598,PRSS50,385,Probable threonine protease PRSS50; May be involved in proteolysis through its threonine endopeptidase activity; Belongs to the peptidase S1 family. 9606.ENSP00000326603,SMCHD1,2005,"Structural maintenance of chromosomes flexible hinge domain-containing protein 1; Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin. Recruited to inactivated chromosome X by Xist RNA and acts by mediating t [...] " 9606.ENSP00000326604,LMBR1,490,Limb region 1 protein homolog; Putative membrane receptor. 9606.ENSP00000326630,ZFPM1,1006,"Zinc finger protein ZFPM1; Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of som [...] " 9606.ENSP00000326649,HPS1,700,"Hermansky-Pudlak syndrome 1 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38." 9606.ENSP00000326652,FAM71F1,344,Protein FAM71F1; Family with sequence similarity 71 member F1. 9606.ENSP00000326671,SLC47A2,602,"Multidrug and toxin extrusion protein 2; Solute transporter for tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, N-methylnicotinamide, metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, and ganciclovir. Responsible for the secretion of cationic drugs across the brush border membranes; Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family." 9606.ENSP00000326693,SLC25A42,318,"Mitochondrial coenzyme A transporter SLC25A42; Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate." 9606.ENSP00000326706,PLEKHO2,490,Pleckstrin homology domain containing O2. 9606.ENSP00000326708,OVCH1,1134,Ovochymase-1; Ovochymase 1. 9606.ENSP00000326718,OR10A7,316,Olfactory receptor 10A7; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000326737,TNFRSF12A,129,Tumor necrosis factor receptor superfamily member 12A; Receptor for TNFSF12/TWEAK. Weak inducer of apoptosis in some cell types. Promotes angiogenesis and the proliferation of endothelial cells. May modulate cellular adhesion to matrix proteins. 9606.ENSP00000326759,LRIG3,1119,"Leucine-rich repeats and immunoglobulin-like domains protein 3; May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1 (By similarity)." 9606.ENSP00000326767,MED25,747,"Mediator of RNA polymerase II transcription subunit 25; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for RARA/RXRA-m [...] " 9606.ENSP00000326804,CUL1,776,"Cullin-1; Core component of multiple cullin-RING-based SCF (SKP1-CUL1- F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. In the SCF complex, serves as a rigid scaffold that organizes the SKP1- F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the [...] " 9606.ENSP00000326806,NCBP2,156,"Nuclear cap-binding protein subunit 2; Component of the cap-binding complex (CBC), which binds co- transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense- mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The C [...] " 9606.ENSP00000326813,YOD1,348,"Ubiquitin thioesterase OTU1; Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP's axial channel. Mediates deubiquitination of 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. A [...] " 9606.ENSP00000326817,LRRC57,239,Leucine-rich repeat-containing protein 57; Leucine rich repeat containing 57. 9606.ENSP00000326846,C14orf28,310,Uncharacterized protein C14orf28; Chromosome 14 open reading frame 28. 9606.ENSP00000326858,NT5DC1,455,5'-nucleotidase domain containing 1. 9606.ENSP00000326869,ORMDL1,153,ORM1-like protein 1; Negative regulator of sphingolipid synthesis. 9606.ENSP00000326879,C5orf22,442,UPF0489 protein C5orf22; Chromosome 5 open reading frame 22; Belongs to the UPF0489 family. 9606.ENSP00000326888,LIMS2,365,"LIM and senescent cell antigen-like-containing domain protein 2; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration." 9606.ENSP00000326933,SERTAD2,314,"SERTA domain-containing protein 2; Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. May act as coactivator as well as corepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2F consensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulating the expression of key genes involved in adipocyte lipolysis, thermogenesis and oxidative metabolism." 9606.ENSP00000326948,FTSJ1,329,Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. TRM7 subfamily. 9606.ENSP00000326981,IMP3,184,U3 small nucleolar ribonucleoprotein protein IMP3; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; Belongs to the universal ribosomal protein uS4 family. 9606.ENSP00000327009,CLIP4,705,CAP-Gly domain containing linker protein family member 4. 9606.ENSP00000327025,RORC,518,"Nuclear receptor ROR-gamma; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25- hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectiv [...] " 9606.ENSP00000327048,MAF,403,"Transcription factor Maf; Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up- regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T- cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 pr [...] " 9606.ENSP00000327054,LMNB2,620,"Lamin-B2; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin; Belongs to the intermediate filament family." 9606.ENSP00000327070,MDH2,338,"Malate dehydrogenase, mitochondrial; Malate dehydrogenase 2." 9606.ENSP00000327077,PCM1,2024,"Pericentriolar material 1 protein; Required for centrosome assembly and function. Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2. Required to anchor microtubules to the centrosome. Involved in the biogenesis of cilia. Belongs to the PCM1 family." 9606.ENSP00000327116,EHD3,535,"EH domain-containing protein 3; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes tubulation of endocytic membranes. Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology. Involved in the recycling of internalized D1 [...] " 9606.ENSP00000327143,ZNF354B,612,Zinc finger protein 354B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000327145,FLNC,2725,"Filamin-C; Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers." 9606.ENSP00000327168,PRR7,274,Proline-rich protein 7; Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN. Might play a redundant role in the regulation of T cell receptor signaling. Might promote apoptosis in T cells. 9606.ENSP00000327179,UTP4,686,"U3 small nucleolar RNA-associated protein 4 homolog; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre- ribosomal RNA transcription by RNA polymerase. May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV." 9606.ENSP00000327191,CCT6B,530,"T-complex protein 1 subunit zeta-2; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis." 9606.ENSP00000327197,SENP5,755,Sentrin-specific protease 5; Protease that catalyzes two essential functions in the SUMO pathway: processing of full-length SUMO3 to its mature form and deconjugation of SUMO2 and SUMO3 from targeted proteins. Has weak proteolytic activity against full-length SUMO1 or SUMO1 conjugates. Required for cell division. 9606.ENSP00000327213,NRIP1,1158,"Nuclear receptor-interacting protein 1; Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of ARNTL/BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC. Involved in the regulation of ovarian function (By similarity). Plays a role in renal development." 9606.ENSP00000327214,ATP13A2,1180,Cation-transporting ATPase 13A2; ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity. Required for a proper lysosomal and mitochondrial maintenance. Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post- translational levels. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. 9606.ENSP00000327234,TMCO5A,288,Transmembrane and coiled-coil domains 5A; Belongs to the TMCO5 family. 9606.ENSP00000327246,VIPR1,457,Vasoactive intestinal polypeptide receptor 1; This is a receptor for VIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The affinity is VIP = PACAP-27 > PACAP-38. 9606.ENSP00000327251,NOS2,1153,"Nitric oxide synthase, inducible; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on 'Cys-247' implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR [...] " 9606.ENSP00000327255,PPM1A,455,"Protein phosphatase 1A; Enzyme with a broad specificity. Negatively regulates TGF- beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-alpha- mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB." 9606.ENSP00000327268,NDUFV2,249,"NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)." 9606.ENSP00000327290,ITGA11,1188,Integrin alpha-11; Integrin alpha-11/beta-1 is a receptor for collagen. 9606.ENSP00000327323,THNSL2,484,"Threonine synthase-like 2; [Isoform 1]: Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity)." 9606.ENSP00000327336,BGN,368,Biglycan; May be involved in collagen fiber assembly. 9606.ENSP00000327344,IGIP,53,IgA-inducing protein homolog; Enhances IgA secretion from B-cells stimulated via CD40. 9606.ENSP00000327368,COL10A1,680,Collagen alpha-1(X) chain; Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage. 9606.ENSP00000327417,GPR39,453,"G-protein coupled receptor 39; Zn(2+) acts as an agonist. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated mainly through G(q)-alpha and G(12)/G(13) proteins. Involved in regulation of body weight, gastrointestinal mobility, hormone secretion and cell death (By similarity); Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000327431,HBG1,147,Hemoglobin subunit gamma 1. 9606.ENSP00000327436,SETD3,594,Actin-histidine N-methyltransferase; Protein-histidine N-methyltransferase that specifically mediates methylation of actin at 'His-73'. Histidine methylation of actin is required for smooth muscle contraction of the laboring uterus during delivery. Does not have protein-lysine N- methyltransferase activity and probably only catalyzes histidine methylation of actin. 9606.ENSP00000327440,BMP8A,402,Bone morphogenetic protein 8A; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT. 9606.ENSP00000327453,ACSM2B,577,"Acyl-coenzyme A synthetase ACSM2B, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate- containing xenobiotics, e.g. benzoate." 9606.ENSP00000327459,APOBEC3B,382,"DNA dC->dU-editing enzyme APOBEC-3B; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamin [...] " 9606.ENSP00000327467,SMDT1,107,"Essential MCU regulator, mitochondrial; Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria. Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU. Plays a central role in regulating the uniplex complex response to intracellular calcium signaling. Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling. Belon [...] " 9606.ENSP00000327468,KLHDC8B,354,"Kelch domain-containing protein 8B; Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis. Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells." 9606.ENSP00000327487,TSEN54,526,"tRNA-splicing endonuclease subunit Sen54; Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA bo [...] " 9606.ENSP00000327506,C16orf54,224,Transmembrane protein C16orf54; Chromosome 16 open reading frame 54. 9606.ENSP00000327509,STAC2,411,"SH3 and cysteine-rich domain-containing protein 2; Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C." 9606.ENSP00000327513,CSF1,554,"Processed macrophage colony-stimulating factor 1; Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male a [...] " 9606.ENSP00000327525,OR4F6,312,Olfactory receptor 4F6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000327533,LYG2,212,Lysozyme g-like protein 2; May act as a potent antibacterial protein that may play a role in the innate immunity; Belongs to the glycosyl hydrolase 23 family. 9606.ENSP00000327538,ZNF534,674,Zinc finger protein 534; May be involved in transcriptional regulation. 9606.ENSP00000327545,NPTXR,500,Neuronal pentraxin receptor; May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. 9606.ENSP00000327557,ACP7,438,"Acid phosphatase 7, tartrate resistant; Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family." 9606.ENSP00000327569,SLC22A10,541,Solute carrier family 22 member 10. 9606.ENSP00000327589,GLUD2,558,"Glutamate dehydrogenase 2, mitochondrial; Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission." 9606.ENSP00000327599,CLEC4G,293,"C-type lectin domain family 4 member G; Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro. (Microbial infection) Acts as a receptor for Ebolavirus. (Microbial infection) Acts as a receptor for Lassa virus and Lymphocytic choriomeningitis virus glycoprotein." 9606.ENSP00000327604,TRIM49,452,Tripartite motif containing 49; Belongs to the TRIM/RBCC family. 9606.ENSP00000327608,ADAMTSL5,471,ADAMTS-like protein 5; May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM). 9606.ENSP00000327611,KCNK12,430,Potassium channel subfamily K member 12; Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity). 9606.ENSP00000327650,VPS33B,617,"Vacuolar protein sorting-associated protein 33B; May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages. Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity. Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesic [...] " 9606.ENSP00000327675,LRRC14B,514,Leucine-rich repeat-containing protein 14B; Leucine rich repeat containing 14B; Belongs to the PRAME family. LRRC14 subfamily. 9606.ENSP00000327687,GRIK1,949,"Glutamate receptor ionotropic, kainate 1; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus." 9606.ENSP00000327694,AP2A2,940,"AP-2 complex subunit alpha-2; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold [...] " 9606.ENSP00000327724,TAS2R60,318,"Taste receptor type 2 member 60; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000327732,C7orf61,206,Uncharacterized protein C7orf61; Chromosome 7 open reading frame 61. 9606.ENSP00000327738,TRIML1,468,Probable E3 ubiquitin-protein ligase TRIML1; Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development. 9606.ENSP00000327758,NKX2-5,324,Homeobox protein Nkx-2.5; Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter. It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development. 9606.ENSP00000327760,CLASP2,458,CLIP-associating protein 2; Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at le [...] 9606.ENSP00000327763,NLRP10,655,"NACHT, LRR and PYD domains-containing protein 10; Inhibits autoprocessing of CASP1, CASP1-dependent IL1B secretion, PYCARD aggregation and PYCARD-mediated apoptosis but not apoptosis induced by FAS or BID. Displays anti- inflammatory activity. Required for immunity against C.albicans infection (By similarity). Involved in the innate immune response by contributing to proinflammatory cytokine release in response to invasive bacterial infection. Contributes to T-cell-mediated inflammatory responses in the skin (By similarity). Plays a role in protection against periodontitis through its [...] " 9606.ENSP00000327786,IZUMO1,350,Izumo sperm-egg fusion protein 1; Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand- receptor interaction probably does not act as a membrane 'fusogen'. 9606.ENSP00000327796,DCAF4L1,396,DDB1- and CUL4-associated factor 4-like protein 1; DDB1 and CUL4 associated factor 4 like 1. 9606.ENSP00000327801,P4HB,508,"Protein disulfide-isomerase; This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chape [...] " 9606.ENSP00000327821,XPOT,962,"Exportin-T; Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nucl [...] " 9606.ENSP00000327824,IFNLR1,520,"Interferon lambda receptor 1; The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. Determines the cell type specificity of the lambda interferon action. Shows a more restricted pattern of expression in the epithelial tissues thereby limiting responses to lambda interferons primarily to epithelial cells of the respiratory, gastrointestinal, [...] " 9606.ENSP00000327832,ATAT1,409,"Alpha-tubulin N-acetyltransferase 1; Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dyn [...] " 9606.ENSP00000327846,SH2D7,451,SH2 domain containing 7. 9606.ENSP00000327889,INTS5,1019,"Integrator complex subunit 5; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex." 9606.ENSP00000327890,IL3RA,378,Interleukin-3 receptor subunit alpha; This is a receptor for interleukin-3. 9606.ENSP00000327916,ACSM5,579,"Acyl-coenzyme A synthetase ACSM5, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000327943,SLC5A2,672,Sodium/glucose cotransporter 2; Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1. 9606.ENSP00000327950,C19orf71,209,Uncharacterized protein C19orf71; Chromosome 19 open reading frame 71. 9606.ENSP00000327959,TGIF1,401,"Homeobox protein TGIF1; Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activitie [...] " 9606.ENSP00000327968,SNAI3,292,Zinc finger protein SNAI3; Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5'- CAGGTG-3' and 5'-CACCTG-3' (By similarity). 9606.ENSP00000327975,DHRS7C,312,Dehydrogenase/reductase SDR family member 7C; Putative oxidoreductase. 9606.ENSP00000327994,TRIM50,487,"E3 ubiquitin-protein ligase TRIM50; E3 ubiquitin-protein ligase that ubiquitinates Beclin-1/BECN1 in a 'Lys-63'-dependent manner enhancing its binding to ULK1. In turn, promotes starvation-induced autophagy activation. Interacts also with p62/SQSTM1 protein and thereby induces the formation and the autophagy clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction; Belongs to the TRIM/RBCC family." 9606.ENSP00000328004,YAF2,204,"YY1-associated factor 2; Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates 'Lys-9' of histone H3, suggesting that it is involved in chromatin-remodeling." 9606.ENSP00000328016,TNFAIP8L3,292,"Tumor necrosis factor alpha-induced protein 8-like protein 3; Acts as a lipid transfer protein. Preferentially captures and shuttles two lipid second messengers, i.e., phosphatidylinositol 4,5- bisphosphate and phosphatidylinositol 3,4,5-trisphosphate and increases their levels in the plasma membrane. Additionally, may also function as a lipid-presenting protein to enhance the activity of the PI3K-AKT and MEK-ERK pathways. May act as a regulator of tumorigenesis through its activation of phospholipid signaling. Belongs to the TNFAIP8 family." 9606.ENSP00000328023,SRPRA,638,"Signal recognition particle receptor subunit alpha; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system." 9606.ENSP00000328036,DGAT2L6,337,Diacylglycerol O-acyltransferase 2-like protein 6; Diglyceride acyltransferase that uses fatty acyl-CoA as substrate. Particularly active with oleate as a substrate. Has no wax synthase activity to produce wax esters ; Belongs to the diacylglycerol acyltransferase family. 9606.ENSP00000328059,RLIM,624,E3 ubiquitin-protein ligase RLIM; E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of [...] 9606.ENSP00000328061,SPEM2,501,Uncharacterized protein SPEM2; SPEM family member 2. 9606.ENSP00000328069,C6orf58,330,Protein LEG1 homolog; May be involved in early liver development. 9606.ENSP00000328070,GLTPD2,291,Glycolipid transfer protein domain containing 2; Belongs to the GLTP family. 9606.ENSP00000328079,WDR53,358,WD repeat domain 53; Belongs to the WD repeat WDR53 family. 9606.ENSP00000328083,ARHGEF37,675,Rho guanine nucleotide exchange factor 37; May act as a guanine nucleotide exchange factor (GEF). 9606.ENSP00000328088,PAWR,340,"PRKC apoptosis WT1 regulator protein; Pro-apoptotic protein capable of selectively inducing apoptosis in cancer cells, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models. Induces apoptosis in certain cancer cells by activation of the Fas prodeath pathway and coparallel inhibition of NF-kappa-B transcriptional activity. Inhibits the transcriptional activation and augments the transcriptional repression mediated by WT1. Down-regulates the anti- apoptotic protein BCL2 via its interaction with WT1. Seems also to be a transcriptional repress [...] " 9606.ENSP00000328111,IL25,177,Interleukin-25; Induces activation of NF-kappa-B and stimulates production of the proinflammatory chemokine IL-8. Proinflammatory cytokine favoring Th2-type immune responses; Belongs to the IL-17 family. 9606.ENSP00000328118,MCF2L2,1114,Probable guanine nucleotide exchange factor MCF2L2; Probably functions as a guanine nucleotide exchange factor. Belongs to the MCF2 family. 9606.ENSP00000328133,IL20RB,311,"Interleukin-20 receptor subunit beta; The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL22RA1/IL20RB dimer is a receptor for IL20 and IL24." 9606.ENSP00000328137,MT1E,127,Metallothionein; Metallothioneins have a high content of cysteine residues that bind various heavy metals. 9606.ENSP00000328169,JAG2,1238,Protein jagged-2; Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity). 9606.ENSP00000328174,PIF1,707,"ATP-dependent DNA helicase PIF1; DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA [...] " 9606.ENSP00000328181,NOG,232,"Noggin; Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6." 9606.ENSP00000328182,CLN8,286,Protein CLN8; Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. 9606.ENSP00000328187,FBXO21,628,F-box only protein 21; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000328203,TRAIP,469,E3 ubiquitin-protein ligase TRAIP; E3 ubiquitin ligase acting as a negative regulator of innate immune signaling. Inhibits activation of NF-kappa-B mediated by TNF. Negatively regulates TLR3/4- and RIG-I-mediated IRF3 activation and subsequent IFNB1 production and cellular antiviral response by promoting 'Lys-48'-linked polyubiquitination of TNK1 leading to its proteasomal degradation (By similarity). Involved in response to genotoxic lesions during genome replication. Promotes H2AX and RPA2 phosphorylation after replication-associated DNA damage and assists fork progression at UV-indu [...] 9606.ENSP00000328207,TNFRSF18,255,Tumor necrosis factor receptor superfamily member 18; Receptor for TNFSF18. Seems to be involved in interactions between activated T-lymphocytes and endothelial cells and in the regulation of T-cell receptor-mediated cell death. Mediated NF-kappa-B activation via the TRAF2/NIK pathway. 9606.ENSP00000328215,OR56A4,365,Olfactory receptor 56A4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000328228,CDCA2,1023,"Cell division cycle-associated protein 2; Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates." 9606.ENSP00000328230,FFAR3,346,"Free fatty acid receptor 3; G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin- sensitive, G(i/o)-alpha f [...] " 9606.ENSP00000328232,ELOA3D,546,"Elongin-A3 member D; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex)." 9606.ENSP00000328236,KNTC1,2209,"Kinetochore-associated protein 1; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex." 9606.ENSP00000328245,ZNF71,489,Endothelial zinc finger protein induced by tumor necrosis factor alpha; May be involved in transcriptional regulation. 9606.ENSP00000328251,RIOX2,465,"Ribosomal oxygenase 2; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated 'Lys-9' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on 'His-39'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles. Belongs to the ROX family. MINA53 subfamily." 9606.ENSP00000328269,HMG20B,317,High mobility group 20B; Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters. 9606.ENSP00000328270,KRTAP4-6,205,Keratin associated protein 4-6. 9606.ENSP00000328277,B4GALNT4,1039,"N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'- diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans; Belongs to the chondroitin N- acetylgalactosaminyltransferase family." 9606.ENSP00000328287,RNF123,1314,E3 ubiquitin-protein ligase RNF123; Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Promotes the ubiquitination and proteasome- mediated degradation of CDKN1B which is the cyclin-dependent kinase inhibitor at the G0-G1 transition of the cell cycle. Functions also as an inhibitor of innate antiviral signaling mediated by DDX58 and IFIH1 independently of its E3 ligase activity. Interacts with the N-terminal CARD domains of DDX58 and IFIH1 and competes with the downstream adapter MAVS. 9606.ENSP00000328307,FAM47B,645,Protein FAM47B; Family with sequence similarity 47 member B; Belongs to the FAM47 family. 9606.ENSP00000328325,PTTG1IP,180,Pituitary tumor-transforming gene 1 protein-interacting protein; May facilitate PTTG1 nuclear translocation. 9606.ENSP00000328326,XKR4,650,XK-related protein 4; XK related 4. 9606.ENSP00000328327,ASB7,318,Ankyrin repeat and SOCS box protein 7; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000328335,SMIM10,83,Small integral membrane protein 10. 9606.ENSP00000328336,CEND1,149,Cell cycle exit and neuronal differentiation protein 1; Involved in neuronal differentiation. 9606.ENSP00000328340,RNF135,432,"E3 ubiquitin-protein ligase RNF135; E2-dependent E3 ubiquitin-protein ligase that functions as a RIG-I/DDX58 coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response. Together with the UBE2D3, UBE2N and UB2V1 E2 ligases, catalyzes the 'Lys-63'-linked polyubiquitination of RIG-I/DDX58 oligomerized on viral RNAs, an essential step in the activation of the RIG-I signaling pathway. Through a ubiquitin-independent parallel mechanism, which consists in bridging RIG-I/DDX58 filaments forming on longer viral RNAs, further activates th [...] " 9606.ENSP00000328347,FAM110C,321,Protein FAM110C; May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway. 9606.ENSP00000328358,KRT79,535,"Keratin, type II cytoskeletal 79; Keratin 79; Belongs to the intermediate filament family." 9606.ENSP00000328359,DEFA3,94,"Neutrophil defensin 2; Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane." 9606.ENSP00000328364,MAFA,353,Transcription factor MafA; Transcription factor that activates insulin gene expression. Acts synergistically with NEUROD1/BETA2 and PDX1. Binds the insulin enhancer C1/RIPE3b element. Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence. 9606.ENSP00000328397,VMO1,202,Vitelline membrane outer layer 1 homolog; Belongs to the VMO1 family. 9606.ENSP00000328402,OR6C76,312,Olfactory receptor 6C76; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000328412,PDE6G,87,"Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G- protein-mediated phototransduction in vertebrate rods and cones." 9606.ENSP00000328423,REC114,266,"Meiotic recombination protein REC114; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and MEI4, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis; Belongs to the REC114 family." 9606.ENSP00000328426,TASOR2,2430,Protein TASOR 2; Transcription activation suppressor family member 2; Belongs to the TASOR family. 9606.ENSP00000328444,KRTAP4-8,185,"Keratin-associated protein 4-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family." 9606.ENSP00000328472,S1PR5,398,Sphingosine 1-phosphate receptor 5; Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. Is coupled to both the G(i/0)alpha and G(12) subclass of heteromeric G-proteins (By similarity). May play a regulatory role in the transformation of radial glial cells into astrocytes and may affect proliferative activity of these cells. 9606.ENSP00000328478,CNGA2,664,Cyclic nucleotide-gated olfactory channel; Odorant signal transduction is probably mediated by a G- protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons; Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA2 subfamily. 9606.ENSP00000328484,H2AC14,128,"Histone H2A type 1-J; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000328487,CCDC87,849,"Coiled-coil domain-containing protein 87; Plays a role in spermatogenesis, where it is important for normal sperm head morphology. Also required for the acrosome reaction and thus normal male fertility; Belongs to the CCDC87 family." 9606.ENSP00000328511,KCNA4,653,"Potassium voltage-gated channel subfamily A member 4; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well [...] " 9606.ENSP00000328515,ZNF696,374,Zinc finger protein 696; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000328524,DENND5A,1287,"DENN domain-containing protein 5A; Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity)." 9606.ENSP00000328547,DNMT3B,853,"DNA (cytosine-5)-methyltransferase 3B; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by [...] " 9606.ENSP00000328551,RAB28,221,"Ras-related protein Rab-28; RAB28, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000328570,GLRX5,157,"Glutaredoxin-related protein 5, mitochondrial; Monothiol glutaredoxin involved in the biogenesis of iron- sulfur clusters. Involved in protein lipoylation, acting in the pathway that provides an iron-sulfur cluster to lipoate synthase. Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron- sulfur protein ACO1. May protect cells against apoptosis due to reactive oxygen species and oxidative stress (By similarity)." 9606.ENSP00000328596,SIX6,246,Homeobox protein SIX6; May be involved in eye development. 9606.ENSP00000328598,HOXD1,328,Homeobox protein Hox-D1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures; Belongs to the Antp homeobox family. Labial subfamily. 9606.ENSP00000328625,NRROS,692,"Transforming growth factor beta activator LRRC33; Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF- beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated fro [...] " 9606.ENSP00000328677,C2CD4C,421,C2 calcium-dependent domain-containing protein 4C; C2 calcium dependent domain containing 4C; Belongs to the C2CD4 family. 9606.ENSP00000328694,MOB2,268,MOB kinase activator 2; Stimulates the autophosphorylation and kinase activity of STK38 and STK38L; Belongs to the MOB1/phocein family. 9606.ENSP00000328698,CABCOCO1,208,Ciliary-associated calcium-binding coiled-coil protein 1; Calcium-binding protein. May be involved in the control of sperm flagellar movement. 9606.ENSP00000328708,RXFP3,469,Relaxin-3 receptor 1; Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation. 9606.ENSP00000328720,FOXK1,733,"Forkhead box protein K1; Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis, muscle cell differentiation and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context. Together with FOXK2, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysi [...] " 9606.ENSP00000328729,SELENOF,165,Selenoprotein F; May be involved in redox reactions associated with the formation of disulfide bonds (By similarity). May contribute to the quality control of protein folding in the endoplasmic reticulum. May regulate protein folding by enhancing the catalytic activity of UGGT1/UGCGL1 and UGGT2/UGCGL2. 9606.ENSP00000328768,PRR23B,265,Proline-rich protein 23B; Proline rich 23B; Belongs to the PRR23 family. 9606.ENSP00000328773,HEXIM1,359,"Protein HEXIM1; Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response a [...] " 9606.ENSP00000328777,EFNA5,228,"Ephrin-A5; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like memb [...] " 9606.ENSP00000328813,KCNH8,1107,"Potassium voltage-gated channel subfamily H member 8; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamily." 9606.ENSP00000328818,GPR132,380,"Probable G-protein coupled receptor 132; May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9-hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton-sensin [...] " 9606.ENSP00000328835,TOP1MT,601,"DNA topoisomerase I, mitochondrial; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, [...] " 9606.ENSP00000328848,RBM10,995,"RNA-binding protein 10; May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins." 9606.ENSP00000328854,NOC4L,516,Nucleolar complex associated 4 homolog; Belongs to the CBF/MAK21 family. 9606.ENSP00000328875,TRAK2,914,"Trafficking kinesin-binding protein 2; May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR; Belongs to the milton family." 9606.ENSP00000328878,OR52E6,313,Olfactory receptor 52E6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000328923,KANK3,821,KN motif and ankyrin repeat domain-containing protein 3; May be involved in the control of cytoskeleton formation by regulating actin polymerization. 9606.ENSP00000328928,HOXB4,251,Homeobox protein Hox-B4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000328938,AFMID,308,"Kynurenine formamidase; Catalyzes the hydrolysis of N-formyl-L-kynurenine to L- kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites." 9606.ENSP00000328940,SLX1B,275,"SLX1 homolog B, structure-specific endonuclease subunit." 9606.ENSP00000328968,SCN5A,2016,"Sodium channel protein type 5 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels. Belongs to the sodium chann [...] " 9606.ENSP00000328977,RPH3AL,315,"Rab effector Noc2; Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells." 9606.ENSP00000328983,CHST6,395,Carbohydrate sulfotransferase 6; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non- reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures; Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. 9606.ENSP00000328992,PAXBP1,917,PAX3- and PAX7-binding protein 1; Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (By similarity); Belongs to the GCF family. 9606.ENSP00000328998,TRAK1,953,"Trafficking kinesin-binding protein 1; Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors. Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes. TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria (By similarity). Belongs to the milton family." 9606.ENSP00000329002,HAX1,279,HCLS1-associated protein X-1; Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex. Slows down the rate of inactivation of KCNC3 channels. Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools. Belongs to the HAX1 family. 9606.ENSP00000329033,SLC25A18,315,Mitochondrial glutamate carrier 2; Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). 9606.ENSP00000329040,FAM174B,159,Membrane protein FAM174B; Essential for Golgi structural integrity. 9606.ENSP00000329056,OR4C46,309,Olfactory receptor 4C46; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000329093,TPH2,490,Tryptophan hydroxylase 2. 9606.ENSP00000329097,PHF6,365,PHD finger protein 6; Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. 9606.ENSP00000329102,LIN9,558,Protein lin-9 homolog; Acts as a tumor suppressor. Inhibits DNA synthesis. Its ability to inhibit oncogenic transformation is mediated through its association with RB1. Plays a role in the expression of genes required for the G1/S transition; Belongs to the lin-9 family. 9606.ENSP00000329106,BPY2,106,Basic charge Y-linked 2. 9606.ENSP00000329127,PRKCH,683,"Protein kinase C eta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentia [...] " 9606.ENSP00000329137,C1QTNF12,302,Adipolin fC1QTNF12; Insulin-sensitizing adipocyte-secreted protein (adipokine) that regulates glucose metabolism in liver and adipose tissue. Promotes glucose uptake in adipocytes and suppresses de novo glucose production in hepatocytes via the PI3K-Akt signaling pathway. Administration lead to reduction of blood glucose. Able to attenuate inflammation in fat tissue. 9606.ENSP00000329140,CREB3L2,520,"Processed cyclic AMP-responsive element-binding protein 3-like protein 2; Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific [...] " 9606.ENSP00000329153,OR6C70,312,Olfactory receptor 6C70; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000329158,CLRN1,245,Clarin-1; May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina; Belongs to the clarin family. 9606.ENSP00000329165,KRT36,467,"Keratin, type I cuticular Ha6; Keratin 36; Belongs to the intermediate filament family." 9606.ENSP00000329170,POU3F2,443,"POU domain, class 3, transcription factor 2; Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, ('GCAT') and ('TAAT'), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL [...] " 9606.ENSP00000329200,STAC3,364,"SH3 and cysteine-rich domain-containing protein 3; Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels. Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membran [...] " 9606.ENSP00000329213,SIVA1,175,Apoptosis regulatory protein Siva; Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl- x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis. 9606.ENSP00000329214,ST6GALNAC3,305,"Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. ST6GalNAcIII prefers glycolipids to glycoproteins (By similarity)." 9606.ENSP00000329219,FMNL1,1100,Formin-like protein 1; May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape; Belongs to the formin homology family. 9606.ENSP00000329243,KRT7,469,"Keratin, type II cytoskeletal 7; Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7). Belongs to the intermediate filament family." 9606.ENSP00000329264,ZNF662,452,Zinc finger protein 662; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000329287,SNN,88,Stannin; Plays a role in the toxic effects of organotins. Plays a role in endosomal maturation. 9606.ENSP00000329292,GKN2,184,Gastrokine-2; Gastrokine 2. 9606.ENSP00000329295,NXPH3,252,Neurexophilin-3; May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity); Belongs to the neurexophilin family. 9606.ENSP00000329312,IGLL1,213,Immunoglobulin lambda-like polypeptide 1; Critical for B-cell development. 9606.ENSP00000329318,TMEM121B,578,Transmembrane protein 121B. 9606.ENSP00000329357,SP1,785,"Transcription factor Sp1; Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Binds also the PDGFR-alpha G-box promoter. May have a role in modulating the cellular response to DNA da [...] " 9606.ENSP00000329360,CCDC137,289,Coiled-coil domain containing 137. 9606.ENSP00000329374,SERPINA7,415,Thyroxine-binding globulin; Major thyroid hormone transport protein in serum; Belongs to the serpin family. 9606.ENSP00000329380,GP1BA,652,"Platelet glycoprotein Ib alpha chain; GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium." 9606.ENSP00000329403,PCP4,62,"Calmodulin regulator protein PCP4; Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls. For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways. Belongs to the PCP4 family." 9606.ENSP00000329419,COPB2,906,"Coatomer subunit beta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also infl [...] " 9606.ENSP00000329452,SLC25A21,299,"Mitochondrial 2-oxodicarboxylate carrier; Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2- aminoadipate, oxaloacetate, and citrate; Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000329466,SIRT7,400,"NAD-dependent protein deacetylase sirtuin-7; NAD-dependent protein-lysine deacylase that can act both as a deacetylase or deacylase (desuccinylase, depropionylase and deglutarylase), depending on the context. Specifically mediates deacetylation of histone H3 at 'Lys-18' (H3K18Ac). In contrast to other histone deacetylases, displays strong preference for a specific histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors; SIRT7 thereby acts a [...] " 9606.ENSP00000329467,ENSP00000329467,313,G_PROTEIN_RECEP_F1_2 domain-containing protein. 9606.ENSP00000329471,KDELR1,212,ER lumen protein-retaining receptor 1; Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Belongs to the ERD2 family. 9606.ENSP00000329499,FAM187A,413,Ig-like V-type domain-containing protein FAM187A; Family with sequence similarity 187 member A. 9606.ENSP00000329507,CD300C,224,CMRF35-like molecule 6; CD300c molecule; Belongs to the CD300 family. 9606.ENSP00000329522,SPDYE4,237,Speedy protein E4; speedy/RINGO cell cycle regulator family member E4; Belongs to the Speedy/Ringo family. 9606.ENSP00000329548,TRARG1,177,"Trafficking regulator of GLUT4 1; Regulates insulin-mediated adipose tissue glucose uptake and transport by modulation of SLC2A4 recycling. Not required for SLC2A4 membrane fusion upon an initial stimulus, but rather is necessary for proper protein recycling during prolonged insulin stimulation." 9606.ENSP00000329557,TMEM89,159,Transmembrane protein 89. 9606.ENSP00000329558,GRPEL2,225,"GrpE protein homolog 2, mitochondrial; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity); Belongs to the GrpE family." 9606.ENSP00000329565,SPDYE3,549,Speedy protein E3; speedy/RINGO cell cycle regulator family member E3. 9606.ENSP00000329584,ODF3L1,274,Outer dense fiber of sperm tails 3 like 1; Belongs to the ODF3 family. 9606.ENSP00000329614,YBEY,167,Endoribonuclease YbeY; Single strand-specific metallo-endoribonuclease involved in rRNA maturation. 9606.ENSP00000329638,ZNF804B,1349,Zinc finger protein 804B. 9606.ENSP00000329647,ACTL10,245,Actin-like protein 10; Actin like 10; Belongs to the actin family. 9606.ENSP00000329654,GALNT17,598,"Polypeptide N-acetylgalactosaminyltransferase 17; May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000329662,H1-10,213,Histone H1x; Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. 9606.ENSP00000329668,SHC4,630,SHC-transforming protein 4; Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1. 9606.ENSP00000329684,GALR2,387,Galanin receptor type 2; Receptor for the hormone galanin and GALP. Receptor for the hormone spexin-1. The activity of this receptor is mediated by G proteins that activate the phospholipase C/protein kinase C pathway (via G(q)) and that inhibit adenylyl cyclase (via G(i)). 9606.ENSP00000329697,PLPP2,309,"Phospholipid phosphatase 2; Magnesium-independent phospholipid phosphatase that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, sphingosine 1-phosphate/S1P and ceramide 1-phosphate/C1P. Has no apparent extracellular phosphatase activity and therefore most probably acts intracellularly. Also acts on N-oleoyl ethanolamine phosphate/N-(9Z-octadecenoyl)-ethanolamine phosphate, a potential physiological compound. Through dephosphorylation of these bioactive lipid mediators produces new bioactiv [...] " 9606.ENSP00000329715,DRG1,367,"Developmentally-regulated GTP-binding protein 1; Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. Appears to have an intrinsic GTPase activity that is stimulated by ZC3H15/DFRP1 binding likely by increasing the affinity for the potassium ions. When hydroxylated at C-3 of 'Lys-22' by JMJD7, may bind to RNA and play a role in translation. Binds to microtubules and promotes microtubule polymerization and stability that are required for mitotic spindle assembly during prophase to anaphase transition. GTPase activity is not necessary for these mi [...] " 9606.ENSP00000329748,CPNE8,564,Copine-8; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes. Belongs to the copine family. 9606.ENSP00000329757,ATP6V0C,155,V-type proton ATPase 16 kDa proteolipid subunit; Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000329793,ZNF85,595,Zinc finger protein 85; May be a transcriptional repressor. 9606.ENSP00000329794,TCEAL7,100,Transcription elongation factor A protein-like 7; Plays a role in the negative regulation of NF-kappa-B signaling at the basal level by modulating transcriptional activity of NF-kappa-B on its target gene promoters. Associates with cyclin D1 promoter containing Myc E-box sequence and transcriptionally represses cyclin D1 expression. Regulates telomerase reverse transcriptase expression and telomerase activity in both ALT (alternative lengthening of telomeres)and telomerase-positive cell lines. 9606.ENSP00000329797,CADM1,471,"Cell adhesion molecule 1; Mediates homophilic cell-cell adhesion in a Ca(2+)- independent manner. Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner. Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells. Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. May contribute to the less invasive phenotypes of lepidic growth tumor cells. In mast cells, may mediate attach [...] " 9606.ENSP00000329803,ZAR1,424,Zygote arrest protein 1; Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity). 9606.ENSP00000329825,SPATA31A6,1343,Spermatogenesis-associated protein 31A6; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000329846,GALNT9,603,"Polypeptide N-acetylgalactosaminyltransferase 9; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000329858,TRMT12,448,tRNA wybutosine-synthesizing protein 2 homolog; S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S- adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86; Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family. 9606.ENSP00000329860,CCDC172,258,Coiled-coil domain containing 172. 9606.ENSP00000329869,TPO,933,Thyroid peroxidase; Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4). 9606.ENSP00000329880,PHACTR1,580,"Phosphatase and actin regulator 1; Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity. Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity)." 9606.ENSP00000329890,DEFA5,94,"Defensin-5; Has antimicrobial activity against Gram-negative and Gram- positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing." 9606.ENSP00000329904,IQCF2,164,IQ motif containing F2. 9606.ENSP00000329915,PSMG1,288,"Proteasome assembly chaperone 1; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization." 9606.ENSP00000329918,MEX3B,569,RNA-binding protein MEX3B; RNA-binding protein. May be involved in post-transcriptional regulatory mechanisms. 9606.ENSP00000329920,MCEMP1,187,Mast cell expressed membrane protein 1. 9606.ENSP00000329926,CALHM1,346,"Calcium homeostasis modulator protein 1; Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes (By similarity). Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways (By similarity). Together with CALHM3, forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells (TBCs) (By similarity). Acts both as a voltage-gat [...] " 9606.ENSP00000329932,LGALS9C,356,Galectin-9C; Binds galactosides. 9606.ENSP00000329933,PHF12,1004,PHD finger protein 12; Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part through the activity of an associated histone deacetylase (HDAC). May also repress transcription in a SIN3A-independent manner through recruitment of functional TLE5 complexes to DNA. 9606.ENSP00000329943,LRRC36,754,Leucine-rich repeat-containing protein 36; Leucine rich repeat containing 36. 9606.ENSP00000329967,TBK1,729,"Serine/threonine-protein kinase TBK1; Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB. In order to establish such an antiviral state, TBK1 form s [...] " 9606.ENSP00000329982,OR4F16,312,Olfactory receptor 4F3/4F16/4F29; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000329991,IFNL1,200,"Interferon lambda-1; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-sel [...] " 9606.ENSP00000329995,FAM186A,2351,Protein FAM186A; Family with sequence similarity 186 member A; Belongs to the FAM186 family. 9606.ENSP00000330031,PIWIL3,882,"Piwi-like protein 3; May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequen [...] " 9606.ENSP00000330032,UPP1,310,Uridine phosphorylase 1; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. 9606.ENSP00000330049,OR4Q3,313,Olfactory receptor 4Q3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000330051,MFSD6L,586,Major facilitator superfamily domain containing 6 like. 9606.ENSP00000330074,H1-5,226,"Histone H1.5; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity)." 9606.ENSP00000330075,OGFOD3,331,2-oxoglutarate and iron dependent oxygenase domain containing 3; Belongs to the OGFOD3 family. 9606.ENSP00000330098,FBXL6,539,F-box/LRR-repeat protein 6; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000330101,KRT76,638,"Keratin, type II cytoskeletal 2 oral; Probably contributes to terminal cornification. Belongs to the intermediate filament family." 9606.ENSP00000330148,GRID1,1009,"Glutamate receptor ionotropic, delta-1; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID1 subfamily." 9606.ENSP00000330188,RSRC2,434,Arginine and serine rich coiled-coil 2; Belongs to the RSRC2 family. 9606.ENSP00000330190,POU6F1,611,"POU domain, class 6, transcription factor 1; Transcription factor that binds preferentially to a variant of the octamer motif (5'-ATGATAAT-3')." 9606.ENSP00000330199,SLC6A17,727,"Sodium-dependent neutral amino acid transporter SLC6A17; Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity)." 9606.ENSP00000330200,BTNL9,535,Butyrophilin-like protein 9; Butyrophilin like 9; Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000330218,SOX1,391,Transcription factor SOX-1; Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity). 9606.ENSP00000330221,SPSB1,273,SPRY domain-containing SOCS box protein 1; Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2. Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5. 9606.ENSP00000330237,CASP9,416,Caspase-9 subunit p10; Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP); Belongs to the peptidase C14A family. 9606.ENSP00000330240,CCDC34,373,Coiled-coil domain containing 34. 9606.ENSP00000330247,NT5DC4,428,5'-nucleotidase domain containing 4; Belongs to the 5'(3')-deoxyribonucleotidase family. 9606.ENSP00000330269,RESP18,228,Regulated endocrine-specific protein 18; May play an important regulatory role in corticotrophs. 9606.ENSP00000330278,PLEKHH1,1364,"Pleckstrin homology, MyTH4 and FERM domain containing H1." 9606.ENSP00000330284,NPBWR1,328,"Neuropeptides B/W receptor type 1; Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals. Has a higher affinity for neuropeptide B." 9606.ENSP00000330289,TRAPPC6B,158,"Trafficking protein particle complex subunit 6B; Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic. Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable)." 9606.ENSP00000330338,OR52L1,329,Olfactory receptor 52L1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000330341,SOCS3,225,"Suppressor of cytokine signaling 3; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS3 is involved in negative regulation of cytokines that signal through the JAK/STAT pathway. Inhibits cytokine signal transduction by binding to tyrosine kinase receptors including gp130, LIF, erythropoietin, insulin, IL12, GCSF and leptin receptors. Binding to JAK2 inhibits its kinase activity. Suppresses fetal liver erythropoiesis. Regulates onset and maintenance of allergic responses mediated by T-helper type 2 cells. Regulates IL [...] " 9606.ENSP00000330349,DDX41,622,Probable ATP-dependent RNA helicase DDX41; Probable ATP-dependent RNA helicase. Is required during post- transcriptional gene expression. May be involved in pre-mRNA splicing. Belongs to the DEAD box helicase family. DDX41 subfamily. 9606.ENSP00000330361,C8orf33,229,UPF0488 protein C8orf33; Chromosome 8 open reading frame 33; Belongs to the UPF0488 family. 9606.ENSP00000330381,WDR5B,330,WD repeat-containing protein 5B; May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex; Belongs to the WD repeat WDR5/wds family. 9606.ENSP00000330382,PDGFB,241,"Platelet-derived growth factor subunit B; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers wit [...] " 9606.ENSP00000330389,PTRHD1,140,peptidyl-tRNA hydrolase domain containing 1. 9606.ENSP00000330391,SPRR3,169,Small proline-rich protein 3; Cross-linked envelope protein of keratinocytes. 9606.ENSP00000330393,LEPR,1165,"Leptin receptor; Receptor for hormone LEP/leptin (Probable). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite- regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones (By similarity). In the periphery, increases basal metabolism, influences [...] " 9606.ENSP00000330426,C1QTNF8,252,Complement C1q tumor necrosis factor-related protein 8; May play a role as ligand of RXFP1. 9606.ENSP00000330432,FAM83F,500,Protein FAM83F; Family with sequence similarity 83 member F. 9606.ENSP00000330433,TM2D3,247,TM2 domain containing 3. 9606.ENSP00000330442,PLB1,1458,"Phospholipase B1, membrane-associated; Membrane-associated phospholipase. Exhibits a calcium- independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity)." 9606.ENSP00000330460,DDX59,619,Probable ATP-dependent RNA helicase DDX59; DEAD-box helicase 59. 9606.ENSP00000330475,TMPRSS11B,416,Transmembrane protease serine 11B; Serine protease. 9606.ENSP00000330484,AMY1B,511,Amylase alpha 1B; Belongs to the glycosyl hydrolase 13 family. 9606.ENSP00000330488,CXorf38,319,Uncharacterized protein CXorf38; Chromosome X open reading frame 38. 9606.ENSP00000330523,CTHRC1,243,Collagen triple helix repeat-containing protein 1; May act as a negative regulator of collagen matrix deposition. 9606.ENSP00000330572,MAPK8IP2,824,"C-Jun-amino-terminal kinase-interacting protein 2; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP2 inhibits IL1 beta-induced apoptosis in insulin-secreting cells. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity)." 9606.ENSP00000330587,MT1H,61,Metallothionein-1H; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family. 9606.ENSP00000330601,HHIPL1,782,HHIP-like protein 1; HHIP like 1; Belongs to the HHIP family. 9606.ENSP00000330606,HS3ST4,456,"Heparan sulfate glucosamine 3-O-sulfotransferase 4; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (By similarity)." 9606.ENSP00000330612,MRGPRG,289,"Mas-related G-protein coupled receptor member G; Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity); Belongs to the G-protein coupled receptor 1 family. Mas subfamily." 9606.ENSP00000330631,RTN4RL1,441,"Reticulon-4 receptor-like 1; Cell surface receptor. Plays a functionally redundant role in postnatal brain development and in regulating axon regeneration in the adult central nervous system. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG. Plays a role in inhibiting neurite outgrowth and axon regeneration via its binding to neuronal chondroitin sulfate proteoglycans. Binds heparin (By similarity). Like other family members, plays a [...] " 9606.ENSP00000330633,CNTN2,1040,"Contactin-2; In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion." 9606.ENSP00000330658,PAPPA,1627,"Pappalysin-1; Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF. Belongs to the peptidase M43B family." 9606.ENSP00000330694,NSMCE3,304,"Non-structural maintenance of chromosomes element 3 homolog; Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML b [...] " 9606.ENSP00000330696,P2RX7,595,"P2X purinoceptor 7; Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells." 9606.ENSP00000330720,KRTAP11-1,163,"Keratin-associated protein 11-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family." 9606.ENSP00000330730,COA5,74,Cytochrome c oxidase assembly factor 5; Involved in an early step of the mitochondrial complex IV assembly process. 9606.ENSP00000330737,NDUFA12,145,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000330746,KRTAP20-2,65,"Keratin-associated protein 20-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 20 family." 9606.ENSP00000330753,BRWD1,2320,Bromodomain and WD repeat-containing protein 1; May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. 9606.ENSP00000330808,OTOL1,477,"Otolin-1; Collagen-like protein specifically expressed in the inner ear, which provides an organic scaffold for otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Acts as a scaffold for biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OC90, modulates calcite crystal morphology and growth kinetics; Belongs to the OTOL1 family." 9606.ENSP00000330825,IFITM1,125,"Interferon-induced transmembrane protein 1; IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-m [...] " 9606.ENSP00000330838,ZNF775,537,Zinc finger protein 775; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000330842,RGPD6,1765,RANBP2 like and GRIP domain containing 6. 9606.ENSP00000330862,OPCML,345,Opioid-binding protein/cell adhesion molecule; Binds opioids in the presence of acidic lipids; probably involved in cell contact; Belongs to the immunoglobulin superfamily. IgLON family. 9606.ENSP00000330875,FANCF,374,Fanconi anemia group F protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity). 9606.ENSP00000330878,KPNA7,516,Importin subunit alpha-8; Functions in nuclear protein import; Belongs to the importin alpha family. 9606.ENSP00000330898,POLR2J2,115,DNA-directed RNA polymerase II subunit RPB11-b1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). 9606.ENSP00000330904,OR2T34,318,Olfactory receptor 2T34; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000330918,PGP,321,"Glycerol-3-phosphate phosphatase; Glycerol-3-phosphate phosphatase hydrolyzing glycerol-3- phosphate into glycerol. Thereby, regulates the cellular levels of glycerol-3-phosphate a metabolic intermediate of glucose, lipid and energy metabolism. Was also shown to have a 2-phosphoglycolate phosphatase activity and a tyrosine-protein phosphatase activity. However, their physiological relevance is unclear. In vitro, has also a phosphatase activity toward ADP, ATP, GDP and GTP (By similarity)." 9606.ENSP00000330945,TMED9,235,"Transmembrane emp24 domain-containing protein 9; Appears to be involved in vesicular protein trafficking, mainly in the early secretory pathway. In COPI vesicle-mediated retrograde transport involved in the coatomer recruitment to membranes of the early secretory pathway. Increases coatomer-dependent activity of ARFGAP2. Thought to play a crucial role in the specific retention of p24 complexes in cis-Golgi membranes; specifically contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. May be involved in organization of intracellular membranes, such as of t [...] " 9606.ENSP00000330959,IL1R2,398,"Interleukin-1 receptor type 2, membrane form; Non-signaling receptor for IL1A, IL1B and IL1RN. Reduces IL1B activities. Serves as a decoy receptor by competetive binding to IL1B and preventing its binding to IL1R1. Also modulates cellular response through non-signaling association with IL1RAP after binding to IL1B. IL1R2 (membrane and secreted forms) preferentially binds IL1B and poorly IL1A and IL1RN. The secreted IL1R2 recruits secreted IL1RAP with high affinity; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors." 9606.ENSP00000331012,C10orf120,335,Uncharacterized protein C10orf120; Chromosome 10 open reading frame 120. 9606.ENSP00000331019,RPS27L,84,Ribosomal protein S27 like; Belongs to the eukaryotic ribosomal protein eS27 family. 9606.ENSP00000331040,OLIG2,323,"Oligodendrocyte transcription factor 2; Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Functions together with ZNF488 to promote oligodendrocyte differentiation. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Antagonist of V2 interneuron and of NKX2-2-induced V3 interneuron development." 9606.ENSP00000331044,ENKUR,256,Enkurin; Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel. 9606.ENSP00000331062,VSTM4,320,V-set and transmembrane domain-containing protein 4; Peptide Lv enhances L-type voltage-gated calcium channel (L- VGCC) currents in retinal photoreceptors. 9606.ENSP00000331065,PPP1R27,154,Protein phosphatase 1 regulatory subunit 27; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. 9606.ENSP00000331086,ODF4,257,"Outer dense fiber protein 4; Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton." 9606.ENSP00000331087,TSSC4,329,Protein TSSC4; Tumor suppressing subtransferable candidate 4. 9606.ENSP00000331103,IP6K2,426,Inositol hexakisphosphate kinase 2; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). 9606.ENSP00000331106,PEX26,305,"Peroxisome assembly protein 26; Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence." 9606.ENSP00000331111,ZNRD1,126,DNA-directed RNA polymerase I subunit RPA12; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. 9606.ENSP00000331127,BOLA2,152,bolA family member 2. 9606.ENSP00000331152,MXI1,295,Max-interacting protein 1; Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX. 9606.ENSP00000331167,LMNTD2,634,Lamin tail domain containing 2. 9606.ENSP00000331172,CD8B,243,T-cell surface glycoprotein CD8 beta chain; CD8b molecule. 9606.ENSP00000331201,HGS,777,"Hepatocyte growth factor-regulated tyrosine kinase substrate; Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin- coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (E [...] " 9606.ENSP00000331209,C11orf54,315,Ester hydrolase C11orf54; Exhibits ester hydrolase activity on the substrate p- nitrophenyl acetate. 9606.ENSP00000331210,BCAN,911,Brevican core protein; May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between hyaluronan (HA) and brain proteoglycans; Belongs to the aggrecan/versican proteoglycan family. 9606.ENSP00000331211,RBM43,357,RNA binding motif protein 43. 9606.ENSP00000331242,KREMEN1,492,"Kremen protein 1; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta- catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate [...] " 9606.ENSP00000331258,POMK,350,"Protein O-mannose kinase; Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)- beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4- (phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only [...] " 9606.ENSP00000331268,ANKRD45,266,Ankyrin repeat domain 45. 9606.ENSP00000331298,UBALD2,164,UBA-like domain-containing protein 2; UBA like domain containing 2; Belongs to the UBALD family. 9606.ENSP00000331302,ELOA2,753,"Elongin-A2; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A2 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex)." 9606.ENSP00000331305,TOB2,344,Protein Tob2; Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases; Belongs to the BTG family. 9606.ENSP00000331310,MORF4L1,362,"Mortality factor 4-like protein 1; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and repl [...] " 9606.ENSP00000331313,GNB1L,327,G protein subunit beta 1 like. 9606.ENSP00000331342,RAB11FIP1,1283,Rab11 family-interacting protein 1; A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis. 9606.ENSP00000331358,GAST,101,Big gastrin; Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine. 9606.ENSP00000331368,SERPINB8,374,Serpin B8; Has an important role in epithelial desmosome-mediated cell- cell adhesion; Belongs to the serpin family. Ov-serpin subfamily. 9606.ENSP00000331369,BOLA3,107,BolA-like protein 3; Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 ; Belongs to the BolA/IbaG family. 9606.ENSP00000331376,SERHL2,314,Serine hydrolase-like protein 2; Probable serine hydrolase. May be related to cell muscle hypertrophy. 9606.ENSP00000331385,KIAA0825,324,Uncharacterized protein KIAA0825; KIAA0825. 9606.ENSP00000331397,FAM43B,329,Protein FAM43B; Family with sequence similarity 43 member B; Belongs to the FAM43 family. 9606.ENSP00000331411,FBLN7,439,Fibulin-7; An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation. 9606.ENSP00000331435,MBD3L5,208,methyl-CpG binding domain protein 3 like 5. 9606.ENSP00000331462,ZNF704,412,Zinc finger protein 704; Transcription factor which binds to RE2 sequence elements in the MYOD1 enhancer. 9606.ENSP00000331465,ZNF84,738,Zinc finger protein 84; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000331470,DBX2,339,Homeobox protein DBX2; Developing brain homeobox 2. 9606.ENSP00000331474,SYNDIG1L,238,Synapse differentiation-inducing gene protein 1-like; Synapse differentiation inducing 1 like. 9606.ENSP00000331479,CYB5D1,228,Cytochrome b5 domain containing 1. 9606.ENSP00000331487,NPLOC4,608,"Nuclear protein localization protein 4 homolog; The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination [...] " 9606.ENSP00000331500,TEX19,164,"Testis-expressed protein 19; Required during spermatogenesis and placenta development, participating in the repression of retrotransposable elements and prevent their mobilization. Collaborates with the Piwi-interacting RNA (piRNA) pathway, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins. Interacts with Piwi proteins and directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer- independent mechanism and are primarily derived from transposons and other repeated sequence elemen [...] " 9606.ENSP00000331504,FES,822,"Tyrosine-protein kinase Fes/Fps; Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF [...] " 9606.ENSP00000331532,SPATA32,384,Spermatogenesis-associated protein 32; Spermatogenesis associated 32. 9606.ENSP00000331544,FBLN1,703,"Fibulin-1; Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a signi [...] " 9606.ENSP00000331545,OR1G1,313,Olfactory receptor 1G1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000331556,CYLC1,651,Cylicin-1; Possible architectural role during spermatogenesis. May be involved in spermatid differentiation. 9606.ENSP00000331577,ZNF397,534,Zinc finger protein 397; Isoform 3 acts as a DNA-dependent transcriptional repressor. 9606.ENSP00000331581,C11orf87,197,Uncharacterized protein C11orf87; Chromosome 11 open reading frame 87. 9606.ENSP00000331600,GPR173,373,"Probable G-protein coupled receptor 173; Is a receptor for the SMIM20 derived peptides Phoenixin-14 and Phoenixin-20 (By similarity). It mediates the Phoenixin-14 and Phoenixin-20 augmentation of gonadotropin-releasing hormone (GNRH) signaling in the hypothalamus and pituitary gland (By similarity). In the ovary, it mediates the effects of Phoenixin-14 and Phoenixin-20 induced granulosa cell proliferation during follicular growth." 9606.ENSP00000331602,PRKCD,676,"Protein kinase C delta type regulatory subunit; Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti- apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses. Nega [...] " 9606.ENSP00000331608,IRX3,501,"Iroquois-class homeodomain protein IRX-3; Transcription factor involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells. Acts as a regulator of energy metabolism." 9606.ENSP00000331614,IKZF1,519,"DNA-binding protein Ikaros; Transcription regulator of hematopoietic cell differentiation. Binds gamma-satellite DNA. Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus i [...] " 9606.ENSP00000331626,ZKSCAN2,967,Zinc finger protein with KRAB and SCAN domains 2; May be involved in transcriptional regulation. 9606.ENSP00000331636,CAPN12,719,Calpain-12; Calcium-regulated non-lysosomal thiol-protease. 9606.ENSP00000331640,TMEM186,213,Transmembrane protein 186. 9606.ENSP00000331643,PGBD2,592,piggyBac transposable element derived 2. 9606.ENSP00000331678,PKP3,797,Plakophilin-3; May play a role in junctional plaques; Belongs to the beta-catenin family. 9606.ENSP00000331681,DGCR6,220,Protein DGCR6; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches. 9606.ENSP00000331682,KLHL22,634,"Kelch-like protein 22; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. Monoubiquitination of PLK1 does not lead to PLK1 degradation. The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stim [...] " 9606.ENSP00000331691,C12orf60,245,Uncharacterized protein C12orf60; Chromosome 12 open reading frame 60. 9606.ENSP00000331704,XKR3,459,XK-related protein 3; XK related 3; Belongs to the XK family. 9606.ENSP00000331720,C16orf72,275,UPF0472 protein C16orf72; Chromosome 16 open reading frame 72. 9606.ENSP00000331727,KCNH7,1196,Potassium voltage-gated channel subfamily H member 7; Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily. 9606.ENSP00000331734,RIPPLY3,190,Protein ripply3; Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity). Belongs to the ripply family. 9606.ENSP00000331736,SELE,610,E-selectin; Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis; Belongs to the selectin/LECAM family. 9606.ENSP00000331741,HOXB2,356,Homeobox protein Hox-B2; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Belongs to the Antp homeobox family. Proboscipedia subfamily. 9606.ENSP00000331745,GDF3,364,Growth/differentiation factor 3; Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor TDGF1/Cripto (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto. Belongs to the TGF-beta family. 9606.ENSP00000331746,CALCA,141,Calcitonin; Calcitonin causes a rapid but short-lived drop in the level of calcium and phosphate in blood by promoting the incorporation of those ions in the bones. 9606.ENSP00000331748,RAB12,244,"Ras-related protein Rab-12; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By simi [...] " 9606.ENSP00000331791,TBX1,495,T-box transcription factor TBX1; Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). 9606.ENSP00000331823,OR5P2,322,Olfactory receptor 5P2; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000331831,GAS6,678,"Growth arrest-specific protein 6; Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses." 9606.ENSP00000331843,NPIPA1,350,Nuclear pore complex interacting protein family member A1. 9606.ENSP00000331845,PRR14L,2151,Protein PRR14L; Proline rich 14 like. 9606.ENSP00000331849,MRPL54,138,Mitochondrial ribosomal protein L54. 9606.ENSP00000331857,NLRP9,991,"NACHT, LRR and PYD domains-containing protein 9; As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell [...] " 9606.ENSP00000331867,TAS1R1,841,Taste receptor type 1 member 1; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. 9606.ENSP00000331879,PRMT3,531,Protein arginine N-methyltransferase 3; Methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in some proteins. 9606.ENSP00000331897,IDH2,452,"Isocitrate dehydrogenase [NADP], mitochondrial; Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex; Belongs to the isocitrate and isopropylmalate dehydrogenases family." 9606.ENSP00000331901,EEF1G,437,Elongation factor 1-gamma; Probably plays a role in anchoring the complex to other cellular components. 9606.ENSP00000331902,COL4A5,1691,"Collagen alpha-5(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen." 9606.ENSP00000331907,DHX34,1143,Probable ATP-dependent RNA helicase DHX34; Probable ATP-binding RNA helicase; Belongs to the DEAD box helicase family. DEAH subfamily. 9606.ENSP00000331915,RFLNB,144,Refilin-B; Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements. 9606.ENSP00000331927,ZNF789,425,Zinc finger protein 789; May be involved in transcriptional regulation. 9606.ENSP00000331944,AEN,325,"Apoptosis-enhancing nuclease; Exonuclease with activity against single- and double-stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single- stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis." 9606.ENSP00000331965,TLCD2,264,TLC domain-containing protein 2; Regulates the composition and fluidity of the plasma membrane. Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity. Does not appear to have any effect on LCPUFA synthesis. Belongs to the TLCD family. 9606.ENSP00000331983,CARMIL1,1371,"F-actin-uncapping protein LRRC16A; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments. Plays a role in lamellipodial protrusion formations and cell migration ; Belongs to the CARMIL family." 9606.ENSP00000332013,ZGPAT,531,"Zinc finger CCCH-type with G patch domain-containing protein; Transcription repressor that specifically binds the 5'- GGAG[GA]A[GA]A-3' consensus sequence. Represses transcription by recruiting the chromatin multiprotein complex NuRD to target promoters. Negatively regulates expression of EGFR, a gene involved in cell proliferation, survival and migration. Its ability to repress genes of the EGFR pathway suggest it may act as a tumor suppressor. Able to suppress breast carcinogenesis." 9606.ENSP00000332034,PROSER1,944,Proline and serine rich 1. 9606.ENSP00000332049,CD86,329,"T-lymphocyte activation antigen CD86; Receptor involved in the costimulatory signal essential for T-lymphocyte proliferation and interleukin-2 production, by binding CD28 or CTLA-4. May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T-cells within 24 hours after activation. Isoform 2 interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation." 9606.ENSP00000332062,SNX20,316,"Sorting nexin-20; May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion." 9606.ENSP00000332073,MGAT1,445,"Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans. Belongs to the glycosyltransferase 13 family." 9606.ENSP00000332103,NAA38,173,"N-alpha-acetyltransferase 38, NatC auxiliary subunit; Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues." 9606.ENSP00000332111,EFCAB13,973,EF-hand calcium-binding domain-containing protein 13; EF-hand calcium binding domain 13. 9606.ENSP00000332118,EPHB3,998,"Ephrin type-B receptor 3; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and [...] " 9606.ENSP00000332134,PRAMEF1,474,PRAME family member 1; Belongs to the PRAME family. 9606.ENSP00000332148,DZIP1L,767,Zinc finger protein DZIP1L; Involved in primary cilium formation. Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane ; Belongs to the DZIP C2H2-type zinc-finger protein family. 9606.ENSP00000332162,SRARP,169,Steroid receptor-associated and regulated protein; May regulate the transcriptional function of androgen and estrogen receptors. 9606.ENSP00000332163,SPRR4,79,Small proline-rich protein 4; Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification; Belongs to the cornifin (SPRR) family. 9606.ENSP00000332164,SLIT3,1530,"Slit homolog 3 protein; May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabout homolog receptors." 9606.ENSP00000332194,H2AC20,129,"Histone H2A type 2-C; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000332198,NOP10,64,"H/ACA ribonucleoprotein complex subunit 3; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...] " 9606.ENSP00000332208,RFX6,928,"DNA-binding protein RFX6; Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by [...] " 9606.ENSP00000332215,PSG3,428,Pregnancy specific beta-1-glycoprotein 3; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000332225,PMCH,165,"Neuropeptide-glutamic acid-isoleucine; MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation; Belongs to the melanin-concentrating hormone family." 9606.ENSP00000332247,ATP6V0A2,856,"V-type proton ATPase 116 kDa subunit a isoform 2; Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Belongs to the V-ATPase 116 kDa subunit family." 9606.ENSP00000332256,ALDH1A3,512,"Aldehyde dehydrogenase family 1 member A3; NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid. Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde. Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity)." 9606.ENSP00000332287,SYNGR1,233,Synaptogyrin-1; May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short- term and long-term synaptic plasticity (By similarity). Belongs to the synaptogyrin family. 9606.ENSP00000332288,TRIM61,209,Putative tripartite motif-containing protein 61; Tripartite motif containing 61. 9606.ENSP00000332293,ASCL2,193,Achaete-scute homolog 2; AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. 9606.ENSP00000332296,RARB,448,"Retinoic acid receptor beta; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. The RXRA/RARB heterodimer can act as a repressor on the DR1 element [...] " 9606.ENSP00000332325,ZNF703,590,"Zinc finger protein 703; Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development; Belongs to the Elbow/Noc family." 9606.ENSP00000332340,DDX28,540,Probable ATP-dependent RNA helicase DDX28; Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function. May be involved in RNA processing or transport. Has RNA and Mg(2+)- dependent ATPase activity. 9606.ENSP00000332353,PTCH1,1447,"Protein patched homolog 1; Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Belongs to the patched family." 9606.ENSP00000332371,COL7A1,2944,Collagen alpha-1(VII) chain; Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen. 9606.ENSP00000332389,BRICD5,228,BRICHOS domain containing 5. 9606.ENSP00000332404,TMIGD1,262,"Transmembrane and immunoglobulin domain-containing protein 1; May control cell-cell adhesion, cell migration and proliferation, cell morphology, and protects renal epithelial cells from oxidative cell injury to promote cell survival." 9606.ENSP00000332407,SDR42E1,393,"Short chain dehydrogenase/reductase family 42E, member 1." 9606.ENSP00000332413,BEST3,668,Bestrophin-3; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Belongs to the bestrophin family. 9606.ENSP00000332433,ZSCAN22,491,Zinc finger and SCAN domain-containing protein 22; May be involved in transcriptional regulation. 9606.ENSP00000332444,CSTF2T,616,Cleavage stimulation factor subunit 2 tau variant; May play a significant role in AAUAAA-independent mRNA polyadenylation in germ cells. Directly involved in the binding to pre- mRNAs (By similarity). 9606.ENSP00000332448,ADAT3,367,Probable inactive tRNA-specific adenosine deaminase-like protein 3; Adenosine deaminase tRNA specific 3; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT3 subfamily. 9606.ENSP00000332449,CRIP1,77,Cysteine-rich protein 1; Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein. 9606.ENSP00000332454,RIPK4,784,Receptor-interacting serine/threonine-protein kinase 4; Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation. 9606.ENSP00000332488,SPPL2C,684,Signal peptide peptidase-like 2C; Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane. 9606.ENSP00000332500,OR4N4,316,Olfactory receptor 4N4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000332504,CCR10,362,C-C chemokine receptor type 10; Receptor for chemokines SCYA27 and SCYA28. Subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-B cell line; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000332511,OLFML1,402,Olfactomedin-like protein 1; Olfactomedin like 1. 9606.ENSP00000332513,SH3BGR,239,SH3 domain-binding glutamic acid-rich protein; SH3 domain binding glutamate rich protein; Belongs to the SH3BGR family. 9606.ENSP00000332528,OTOP2,562,Proton channel OTOP2; Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes. Belongs to the otopetrin family. 9606.ENSP00000332530,RNLS,342,"Renalase; Catalyzes the oxidation of the less abundant 1,2-dihydro- beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta-NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its se [...] " 9606.ENSP00000332549,GRIN2A,1464,"Glutamate receptor ionotropic, NMDA 2A; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kineti [...] " 9606.ENSP00000332565,SULT4A1,284,"Sulfotransferase 4A1; Atypical sulfotransferase family member with very low affinity for 3'-phospho-5'-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p- nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS." 9606.ENSP00000332576,OSBP2,916,Oxysterol-binding protein 2; Binds 7-ketocholesterol. 9606.ENSP00000332591,NPY2R,381,"Neuropeptide Y receptor type 2; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PYY > NPY > PYY (3-36) > NPY (2-36) > [Ile-31, Gln-34] PP > [Leu-31, Pro-34] NPY > PP, [Pro-34] PYY and NPY free acid." 9606.ENSP00000332592,SPAG16,631,Sperm-associated antigen 16 protein; Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By similarity). 9606.ENSP00000332595,ZNF92,586,Zinc finger protein 92; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000332602,CTAG1B,180,Cancer/testis antigen 1B; Belongs to the CTAG/PCC1 family. 9606.ENSP00000332604,EIF3C,913,"Eukaryotic translation initiation factor 3 subunit C; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000332613,OAF,273,Out at first homolog; Belongs to the OAF family. 9606.ENSP00000332615,FAM169B,192,Protein FAM169B; Family with sequence similarity 169 member B; Belongs to the FAM169 family. 9606.ENSP00000332646,MFSD10,455,Major facilitator superfamily domain-containing protein 10; Confers cellular resistance to apoptosis induced by the non- steroidal anti-inflammatory drugs indomethacin and diclofenac. May act as an efflux pump; Belongs to the major facilitator superfamily. 9606.ENSP00000332656,ENPP7,458,Ectonucleotide pyrophosphatase/phosphodiesterase family member 7; Converts sphingomyelin to ceramide and phosphocholine. Has also phospholipase C activity and can cleave phosphocholine from palmitoyl lyso-phosphatidylcholine. Does not have nucleotide pyrophosphatase activity. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. 9606.ENSP00000332659,CCR4,360,"C-C chemokine receptor type 4; High affinity receptor for the C-C type chemokines CCL17/TARC, CCL22/MDC and CKLF isoform 1/CKLF1. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival." 9606.ENSP00000332679,CYP2A13,494,"Cytochrome P450 2A13; Exhibits a coumarin 7-hydroxylase activity. Active in the metabolic activation of hexamethylphosphoramide, N,N-dimethylaniline, 2'-methoxyacetophenone, N-nitrosomethylphenylamine, and the tobacco- specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Possesses phenacetin O-deethylation activity." 9606.ENSP00000332681,LRP2BP,347,LRP2-binding protein; May act as an adapter that regulates LRP2 function. 9606.ENSP00000332690,KRTAP6-1,71,"Keratin-associated protein 6-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000332706,PURA,322,Transcriptional activator protein Pur-alpha; This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination. 9606.ENSP00000332723,COLEC10,277,"Collectin-10; Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine. Acts as a chemoattractant, probably involved in the regulation of cell migration ; Belongs to the COLEC10/COLEC11 family." 9606.ENSP00000332737,UNC5A,842,Netrin receptor UNC5A; Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. Mediates axon repulsion of neuronal growth cones in the developing nervous system in response to netrin. Axon repulsion in growth cones may be mediated by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. 9606.ENSP00000332750,ZKSCAN8,578,Zinc finger protein with KRAB and SCAN domains 8; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000332756,ATP11C,1132,"Phospholipid-transporting ATPase IG; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. In the cell membrane of erythrocytes, it is required to maintain phosphatidylserine (PS) in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for [...] " 9606.ENSP00000332757,FUT10,479,"Alpha-(1,3)-fucosyltransferase 10; Probable fucosyltransferase; Belongs to the glycosyltransferase 10 family." 9606.ENSP00000332766,NPB,125,"Neuropeptide B-23; May be involved in the regulation of feeding, neuroendocrine system, memory, learning and in the afferent pain pathway." 9606.ENSP00000332771,CLCNKA,687,"Chloride channel protein ClC-Ka; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms; Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily." 9606.ENSP00000332772,YIPF7,280,Protein YIPF7; Yip1 domain family member 7; Belongs to the YIP1 family. 9606.ENSP00000332773,IGDCC3,814,Immunoglobulin superfamily DCC subclass member 3. 9606.ENSP00000332788,ANO9,782,"Anoctamin-9; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. Belongs to the anoctamin family." 9606.ENSP00000332790,H2AC21,130,"Histone H2A type 2-B; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000332791,KLHL15,604,"Kelch-like protein 15; Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex. Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits. Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through e [...] " 9606.ENSP00000332805,KRTAP8-1,63,"Keratin-associated protein 8-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 8 family." 9606.ENSP00000332806,EMILIN3,766,EMILIN-3; Elastin microfibril interfacer 3. 9606.ENSP00000332809,PCARE,1288,Photoreceptor cilium actin regulator; Plays an essential role for normal photoreceptor cell maintenance and vision. 9606.ENSP00000332812,PTGDR2,395,"Prostaglandin D2 receptor 2; Receptor for prostaglandin D2 (PGD2). Coupled to the G(i)- protein. Receptor activation may result in pertussis toxin-sensitive decreases in cAMP levels and Ca(2+) mobilization. PI3K signaling is also implicated in mediating PTGDR2 effects. PGD2 induced receptor internalization. CRTH2 internalization can be regulated by diverse kinases such as, PKC, PKA, GRK2, GPRK5/GRK5 and GRK6. Receptor activation is responsible, at least in part, in immune regulation and allergic/inflammation responses." 9606.ENSP00000332861,ZNF530,599,Zinc finger protein 530; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000332875,FAM166C,201,Protein FAM166C; Family with sequence similarity 166 member C; Belongs to the FAM166C family. 9606.ENSP00000332879,FLRT2,660,"Leucine-rich repeat transmembrane protein FLRT2; Functions in cell-cell adhesion, cell migration and axon guidance. Mediates cell-cell adhesion via its interactions with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. May play a role in the migration of cortical neurons during brain development via its interaction with UNC5D. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5D, and possibly also other UNC-5 family members. Plays a role in fibroblast growth factor-mediated signal [...] " 9606.ENSP00000332886,FREM3,2139,FRAS1-related extracellular matrix protein 3; Extracellular matrix protein which may play a role in cell adhesion. 9606.ENSP00000332887,UQCR10,63,"Cytochrome b-c1 complex subunit 9; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inn [...] " 9606.ENSP00000332900,ADGRG3,549,Adhesion G protein-coupled receptor G3; Orphan receptor that regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42. Regulates B-cell development (By similarity). Seems to signal through G-alpha(q)-proteins. 9606.ENSP00000332963,IZUMO1R,250,"Sperm-egg fusion protein Juno; Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate." 9606.ENSP00000332969,TRIM64B,449,Putative tripartite motif-containing protein 64B; Tripartite motif containing 64B; Belongs to the TRIM/RBCC family. 9606.ENSP00000332973,SMAD3,425,"Mothers against decapentaplegic homolog 3; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP- 1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and m [...] " 9606.ENSP00000332979,BACE2,518,"Beta-secretase 2; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells. Belongs to the peptidase A1 family." 9606.ENSP00000332983,WBP2NL,309,"Postacrosomal sheath WW domain-binding protein; May play a role in meotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization." 9606.ENSP00000333003,PRSS55,352,Serine protease 55; Probable serine protease. 9606.ENSP00000333012,SS18L1,396,"Calcium-responsive transactivator; Transcriptional activator which is required for calcium- dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is depho [...] " 9606.ENSP00000333018,TTC32,151,Tetratricopeptide repeat domain 32. 9606.ENSP00000333019,ADSS1,500,"Adenylosuccinate synthetase isozyme 1; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP." 9606.ENSP00000333024,PHF7,381,PHD finger protein 7; May play a role in spermatogenesis. 9606.ENSP00000333037,ACTRT3,372,Actin related protein T3. 9606.ENSP00000333041,C14orf180,177,Nutritionally-regulated adipose and cardiac enriched protein homolog; Chromosome 14 open reading frame 180. 9606.ENSP00000333097,FIGLA,219,"Factor in the germline alpha; Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E [...] " 9606.ENSP00000333142,PLA2G6,806,"85/88 kDa calcium-independent phospholipase A2; Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide- induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose- stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2- induced chemotaxis through regulation of F-actin polymerization at the pseudopods." 9606.ENSP00000333157,GH2,256,Chorionic somatomammotropin hormone 1 isoform 2; Growth hormone 2. 9606.ENSP00000333181,MARCHF11,402,E3 ubiquitin-protein ligase MARCHF11; E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids. 9606.ENSP00000333183,MBD3L3,208,methyl-CpG binding domain protein 3 like 3. 9606.ENSP00000333184,OR4F15,312,Olfactory receptor 4F15; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000333203,SERPINA5,406,Plasma serine protease inhibitor; Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and proinflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coa [...] 9606.ENSP00000333212,CYP2U1,544,"Cytochrome P450 2U1; A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH- ferrihemoprotein reductase). Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes. May downregulat [...] " 9606.ENSP00000333223,ZNF470,717,Zinc finger protein 470; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000333234,DEFB108B,73,Beta-defensin 108B; Has antibacterial activity. 9606.ENSP00000333262,INPP5J,1006,"Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A; Inositol 5-phosphatase, which converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4- phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4- trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity)." 9606.ENSP00000333266,UBA7,1012,"Ubiquitin-like modifier-activating enzyme 7; Activates ubiquitin by first adenylating with ATP its C- terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Catalyzes the ISGylation of influenza A virus NS1 protein." 9606.ENSP00000333275,NR2C1,603,"Nuclear receptor subfamily 2 group C member 1; Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiatio [...] " 9606.ENSP00000333277,H3C13,136,"Histone H3.2; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000333283,FAAP100,881,"Fanconi anemia core complex-associated protein 100; Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed." 9606.ENSP00000333292,SPNS2,549,Protein spinster homolog 2; Acts a a crucial lysosphingolipid sphingosine 1-phosphate (S1P) transporter involved in S1P secretion and function. S1P is a bioactive signaling molecule that regulates many physiological processes important for the development and for the immune system. Regulates levels of S1P and the S1P gradient that exists between the high circulating concentrations of S1P and low tissue levels that control lymphocyte trafficking. 9606.ENSP00000333298,LAMP1,417,Lysosome-associated membrane glycoprotein 1; Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis. 9606.ENSP00000333300,HSD17B13,300,Hydroxysteroid 17-beta dehydrogenase 13. 9606.ENSP00000333310,SULT1C3,304,Sulfotransferase 1C3; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor and has low sulphotransferase activity towards various substrates with alcohol groups (in vitro). May catalyze the sulfate conjugation of xenobiotic compounds and endogenous substrates. 9606.ENSP00000333326,TUBA8,449,"Tubulin alpha-8 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000333329,USP17L2,530,"Ubiquitin carboxyl-terminal hydrolase 17; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetyl [...] " 9606.ENSP00000333350,JRKL,524,Jerky protein homolog-like; JRK like; Belongs to the tigger transposable element derived protein family. 9606.ENSP00000333358,RNASE10,216,Inactive ribonuclease-like protein 10; Secreted proximal epididymal protein required for post- testicular sperm maturation and male fertility. May be involved in sperm adhesion to the egg zona pellucida. Does not have ribonuclease activity (By similarity). 9606.ENSP00000333363,DNAH8,4707,"Dynein heavy chain 8, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity)." 9606.ENSP00000333374,CCDC60,550,Coiled-coil domain containing 60. 9606.ENSP00000333376,USP45,814,Ubiquitin carboxyl-terminal hydrolase 45; May be involved in the maintenance of photoreceptor function. 9606.ENSP00000333395,ARSI,569,"Arylsulfatase I; Displays arylsulfatase activity at neutral pH, when co- expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts." 9606.ENSP00000333401,MRPL40,206,Mitochondrial ribosomal protein L40; Belongs to the mitochondrion-specific ribosomal protein mL40 family. 9606.ENSP00000333433,SKA2,121,"Spindle and kinetochore-associated protein 2; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a [...] " 9606.ENSP00000333441,TREX2,236,Three prime repair exonuclease 2; Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA repair. 9606.ENSP00000333487,MAGEA2B,314,Melanoma-associated antigen 2; Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal d [...] 9606.ENSP00000333490,URAD,173,Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase; Catalyzes the stereoselective decarboxylation of 2-oxo-4- hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin. 9606.ENSP00000333496,KCND2,630,"Potassium voltage-gated channel subfamily D member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action pote [...] " 9606.ENSP00000333519,SLC24A3,644,Sodium/potassium/calcium exchanger 3; Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). 9606.ENSP00000333534,CYP2F1,491,"Cytochrome P450 2F1; May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine. Belongs to the cytochrome P450 family." 9606.ENSP00000333539,MIPOL1,442,Mirror-image polydactyly 1. 9606.ENSP00000333547,RAB11B,218,"Ras-related protein Rab-11B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The small Rab GTPase RAB11B plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regul [...] " 9606.ENSP00000333551,PLPBP,275,"Pyridoxal phosphate homeostasis protein; Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'- phosphate (PLP), the active form of vitamin B6." 9606.ENSP00000333591,SLC35D3,416,Solute carrier family 35 member D3; May play a role in hemostasis as a regulator of the biosynthesis of platelet-dense granules; Belongs to the TPT transporter family. SLC35D subfamily. 9606.ENSP00000333593,NXPH4,308,Neurexophilin-4; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. Belongs to the neurexophilin family. 9606.ENSP00000333633,MTA1,715,"Metastasis-associated protein MTA1; Transcriptional coregulator which can act as both a transcriptional corepressor and coactivator. As a part of the histone- deacetylase multiprotein complex (NuRD), regulates transcription of its targets by modifying the acetylation status of the target chromatin and cofactor accessibility to the target DNA. In conjunction with other components of NuRD, acts as a transcriptional corepressor of BRCA1, ESR1, TFF1 and CDKN1A. Acts as a transcriptional coactivator of BCAS3, PAX5 and SUMO2, independent of the NuRD complex. Stimulates the expression of WNT1 [...] " 9606.ENSP00000333639,IFNL2,200,"Interferon lambda-2; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-sel [...] " 9606.ENSP00000333640,EYA2,538,"Eyes absent homolog 2; Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in transcription regulat [...] " 9606.ENSP00000333657,MX2,715,Interferon-induced GTP-binding protein Mx2; Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression. 9606.ENSP00000333660,ZNF571,609,Zinc finger protein 571; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000333664,ACAA1,424,"3-ketoacyl-CoA thiolase, peroxisomal; acetyl-CoA acyltransferase 1; Belongs to the thiolase-like superfamily. Thiolase family." 9606.ENSP00000333666,ADI1,179,"1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase; Catalyzes the formation of formate and 2-keto-4- methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non- permissive cell line." 9606.ENSP00000333667,SHMT2,504,"Serine hydroxymethyltransferase, mitochondrial; Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis. Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA. Also required for mitochondrial tran [...] " 9606.ENSP00000333680,NFAM1,270,"NFAT activation molecule 1; May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking." 9606.ENSP00000333685,MAPK11,364,"Mitogen-activated protein kinase 11; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MA [...] " 9606.ENSP00000333697,TMEM179B,219,Transmembrane protein 179B; Belongs to the TMEM179 family. 9606.ENSP00000333724,OR6X1,312,Olfactory receptor 6X1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000333725,ZNF26,533,Zinc finger protein 26; May be involved in transcriptional regulation. 9606.ENSP00000333735,NPAP1,1156,Nuclear pore-associated protein 1; May be involved in spermatogenesis. 9606.ENSP00000333769,BSG,385,"Basigin; Plays an important role in targeting the monocarboxylate transporters SLC16A1, SLC16A3, SLC16A8, SLC16A11 and SLC16A12 to the plasma membrane. Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes. (Microbial infection) Erythrocyte receptor for P.falciparum RH5 which is essential for erythrocyte invasion by the merozoite stage of P.falciparum [...] " 9606.ENSP00000333776,ZNF479,524,Zinc finger protein 479; May be involved in transcriptional regulation. 9606.ENSP00000333779,EVI2B,448,Protein EVI2B; Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells. 9606.ENSP00000333800,MRGPRX2,330,"Mas-related G-protein coupled receptor member X2; Mast cell-specific receptor for basic secretagogues, i.e. cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core. Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo-allergic reactions characterized by histamine release, inflammation and airway contraction (By similarity). Acts as a rece [...] " 9606.ENSP00000333802,ZNF599,588,Zinc finger protein 599; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000333813,ALG12,488,"Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation; Belongs to the glycosyltransferase 22 family." 9606.ENSP00000333821,MC2R,297,Adrenocorticotropic hormone receptor; Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP). Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000333833,CMTM4,234,"CKLF-like MARVEL transmembrane domain-containing protein 4; Acts as a backup for CMTM6 to regulate plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. May protect PD- L1/CD274 from being polyubiquitinated and targeted for degradation. Belongs to the chemokine-like factor family." 9606.ENSP00000333836,FIGN,759,"Fidgetin; ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chr [...] " 9606.ENSP00000333837,MRPL12,198,"39S ribosomal protein L12, mitochondrial; Associates with mitochondrial RNA polymerase to activate transcription; Belongs to the bacterial ribosomal protein bL12 family." 9606.ENSP00000333845,C11orf88,196,UPF0722 protein C11orf88. 9606.ENSP00000333887,KRTAP22-1,48,"Keratin-associated protein 22-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000333896,RPS6KA4,772,"Ribosomal protein S6 kinase alpha-4; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional activity in response to T [...] " 9606.ENSP00000333900,OIT3,545,Oncoprotein-induced transcript 3 protein; May be involved in hepatocellular function and development. 9606.ENSP00000333915,CFAP73,308,Cilia- and flagella-associated protein 73; May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. Belongs to the CFAP73 family. 9606.ENSP00000333917,DUSP18,188,"Dual specificity protein phosphatase 18; Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP)." 9606.ENSP00000333919,BTLA,289,"B- and T-lymphocyte attenuator; Inhibitory receptor on lymphocytes that negatively regulates antigen receptor signaling via PTPN6/SHP-1 and PTPN11/SHP-2. May interact in cis (on the same cell) or in trans (on other cells) with TNFRSF14. In cis interactions, appears to play an immune regulatory role inhibiting in trans interactions in naive T cells to maintain a resting state. In trans interactions, can predominate during adaptive immune response to provide survival signals to effector T cells." 9606.ENSP00000333920,TTF1,905,"Transcription termination factor 1; Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity." 9606.ENSP00000333926,ABCC5,1437,Multidrug resistance-associated protein 5; Acts as a multispecific organic anion pump which can transport nucleotide analogs; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 9606.ENSP00000333934,TRMT11,463,tRNA (guanine(10)-N2)-methyltransferase homolog; Catalytic subunit of an S-adenosyl-L-methionine-dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs; Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM11 methyltransferase family. 9606.ENSP00000333938,NEXN,675,Nexilin; Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity. 9606.ENSP00000333942,KIF9,790,Kinesin-like protein KIF9; Kinesin family member 9. 9606.ENSP00000333946,COQ6,468,"Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial; FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-hexaprenyl-4-hydroxybenzoic acid (HHB) to 3- hexaprenyl-4,5-dihydroxybenzoic acid (DHHB). The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6 (By similarity). Is able to perform the deamination reaction at C4 of 3-hexaprenyl-4-amino-5- hydroxybenzoic acid (HHAB) to produce DHHB when expressed in yeast cells [...] " 9606.ENSP00000333947,CHST15,561,"Carbohydrate sulfotransferase 15; Sulfotransferase that transfers sulfate from 3'- phosphoadenosine 5'-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non-reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B-cell receptor involved in BCR ligation-mediated early activation t [...] " 9606.ENSP00000333948,RPS19BP1,136,"Active regulator of SIRT1; Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity. Belongs to the AROS family." 9606.ENSP00000333952,LCE5A,118,Late cornified envelope protein 5A; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family. 9606.ENSP00000333956,SELENOV,346,Selenoprotein V; May be involved in a redox-related process. 9606.ENSP00000333980,ZNF749,778,Zinc finger protein 749; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000333982,NDEL1,345,"Nuclear distribution protein nudE-like 1; Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripe [...] " 9606.ENSP00000333984,TRDN,729,"Triadin; Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats." 9606.ENSP00000333993,KRTAP17-1,105,"Keratin-associated protein 17-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334002,HAP1,619,Huntingtin-associated protein 1; Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via associati [...] 9606.ENSP00000334003,INTU,942,"Protein inturned; Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity ef [...] " 9606.ENSP00000334008,PARVA,372,"Alpha-parvin; Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and dire [...] " 9606.ENSP00000334037,EMC10,262,"ER membrane protein complex subunit 10; Promotes angiogenesis and tissue repair in the heart after myocardial infarction. Stimulates cardiac endothelial cell migration and outgrowth via the activation of p38 MAPK, PAK and MAPK2 signaling pathways." 9606.ENSP00000334040,RSBN1L,846,Lysine-specific demethylase RSBN1L; Lysine-specific demethylase that specifically demethylates methylated lysine residues of proteins; Belongs to the round spermatid basic protein 1 family. 9606.ENSP00000334042,TAC4,113,"Endokinin-A/B; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin-C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility." 9606.ENSP00000334044,UBL4B,174,Ubiquitin-like protein 4B; Ubiquitin like 4B. 9606.ENSP00000334050,TAS2R42,314,"Taste receptor type 2 member 42; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)." 9606.ENSP00000334051,GNAL,458,"Guanine nucleotide-binding protein G(olf) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters." 9606.ENSP00000334068,OR13C8,320,Olfactory receptor 13C8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334072,TMEM212,194,Transmembrane protein 212. 9606.ENSP00000334100,EXOC7,735,"Exocyst complex component 7; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity); Belongs to the EXO70 family." 9606.ENSP00000334113,DHRSX,330,Dehydrogenase/reductase SDR family member on chromosome X; Involved in the positive regulation of starvation-induced autophagy ; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000334115,OR10T2,314,Olfactory receptor 10T2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334122,FGF3,239,"Fibroblast growth factor 3; Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development; Belongs to the heparin-binding growth factors family." 9606.ENSP00000334128,CYP27C1,372,"Cytochrome P450 27C1; Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4-didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all-trans retinoic acid. Belongs to the cytochrome P450 family." 9606.ENSP00000334134,RGS9BP,235,"Regulator of G-protein signaling 9-binding protein; Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protectin [...] " 9606.ENSP00000334140,KLHDC10,442,Kelch domain-containing protein 10; Participates in the oxidative stress-induced cell death through MAP3K5 activation. Inhibits PPP5C phosphatase activity on MAP3K5. 9606.ENSP00000334145,F3,295,Tissue factor; Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. The [TF:VIIa] complex activates factors IX or X by specific limited proteolysis. TF plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade. 9606.ENSP00000334148,WDR25,544,WD repeat domain 25. 9606.ENSP00000334153,RFTN1,578,"Raftlin; Involved in protein trafficking via association with clathrin and AP2 complex. Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages; and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production. Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion (By similarity). [...] " 9606.ENSP00000334181,KDM4D,523,"Lysine-specific demethylase 4D; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys- 20'. Demethylates both di- and trimethylated H3 'Lys-9' residue, while it has no activity on monomethylated residues. Demethylation of Lys residue generates formaldehyde and succinate." 9606.ENSP00000334186,VWCE,955,Von Willebrand factor C and EGF domain-containing protein; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma. 9606.ENSP00000334187,LCE1F,118,Late cornified envelope protein 1F; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000334197,KRTAP10-11,298,"Keratin-associated protein 10-11; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family." 9606.ENSP00000334198,CACNA1H,2353,"Voltage-dependent T-type calcium channel subunit alpha-1H; Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons. In t [...] " 9606.ENSP00000334216,ATP4B,291,Potassium-transporting ATPase subunit beta; Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity. 9606.ENSP00000334223,SLC36A2,483,Proton-coupled amino acid transporter 2; Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity); Belongs to the amino acid/polyamine transporter 2 family. 9606.ENSP00000334246,CYP4Z1,505,Cytochrome P450 family 4 subfamily Z member 1. 9606.ENSP00000334267,C5orf38,138,Protein CEI; Chromosome 5 open reading frame 38. 9606.ENSP00000334276,UGT2B28,529,"UDP-glucuronosyltransferase 2B28; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme has glucuronidating capacity with steroid substrates such as 5-beta-androstane 3-alpha,17-beta-diol, estradiol, ADT, eugenol and bile acids. Only isoform 1 seems to be active." 9606.ENSP00000334287,KRTAP21-2,83,"Keratin-associated protein 21-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334289,C9orf85,157,Uncharacterized protein C9orf85; Chromosome 9 open reading frame 85. 9606.ENSP00000334294,TCFL5,500,Transcription factor-like 5 protein; Putative transcription factor. Isoform 3 may play a role in early spermatogenesis. 9606.ENSP00000334300,ACTL7A,435,Actin-like protein 7A; Actin like 7A; Belongs to the actin family. 9606.ENSP00000334308,SYNE3,975,"Nesprin-3; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is re [...] " 9606.ENSP00000334314,EML1,834,"Echinoderm microtubule-associated protein-like 1; Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se; Belongs to the WD repeat EMAP family." 9606.ENSP00000334319,PCLO,5142,"Protein piccolo; Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (By similarity). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). O [...] " 9606.ENSP00000334329,UNC5B,945,Netrin receptor UNC5B; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Functions as netrin receptor that negatively regulates vascular branching during angiogenesis. Mediates retraction of tip cell filopodia on endothelial growth cones in response to netrin (By similarity). It also acts as a dependence receptor required for apoptosis induction when not ass [...] 9606.ENSP00000334330,DEFB105A,78,Beta-defensin 105; Has antibacterial activity. 9606.ENSP00000334364,DEFB106B,65,Beta-defensin 106; Has antibacterial activity. Acts as a ligand for C-C chemokine receptor CCR2. Belongs to the beta-defensin family. 9606.ENSP00000334373,KPNA4,521,"Importin subunit alpha-3; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are [...] " 9606.ENSP00000334374,SLITRK2,845,SLIT and NTRK-like protein 2; It is involved in synaptogenesis and promotes excitatory synapse differentiation. Suppresses neurite outgrowth (By similarity). 9606.ENSP00000334379,C2CD3,2353,"C2 domain-containing protein 3; Component of the centrioles that acts as a positive regulator of centriole elongation. Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation. Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3." 9606.ENSP00000334382,HOMER1,354,"Homer protein homolog 1; Postsynaptic density scaffolding protein. Binds and cross- links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER- associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Isoform 3 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic meta [...] " 9606.ENSP00000334393,OR4F5,305,Olfactory receptor 4F5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334410,PRAMEF14,474,PRAME family member 14. 9606.ENSP00000334415,FAM183A,134,Protein FAM183A; Family with sequence similarity 183 member A; Belongs to the FAM183 family. 9606.ENSP00000334418,OR4C12,309,Olfactory receptor 4C12; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334430,FAM9C,166,Protein FAM9C; Family with sequence similarity 9 member C. 9606.ENSP00000334437,NUDT17,328,Nucleoside diphosphate-linked moiety X motif 17; Probably mediates the hydrolysis of some nucleoside diphosphate derivatives; Belongs to the Nudix hydrolase family. 9606.ENSP00000334441,OR10J5,309,Olfactory receptor 10J5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334448,GNG2,71,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction (By similarity)." 9606.ENSP00000334452,OR13F1,319,Olfactory receptor 13F1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334456,OR5D14,314,Olfactory receptor 5D14; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334463,LYPD6,171,Ly6/PLAUR domain-containing protein 6; Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain. Inhibits nicotine-induced Ca(2+) influx through nAChRs. Acts as a positive regulator of Wnt/beta-catenin signaling (By similarity). 9606.ENSP00000334472,FOXE3,319,"Forkhead box protein E3; Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle. During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye." 9606.ENSP00000334474,ZMIZ1,1067,Zinc finger MIZ domain-containing protein 1; Acts as transcriptional coactivator. Increases ligand- dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation. Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex. Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity). 9606.ENSP00000334501,DMRTC1B,192,Doublesex- and mab-3-related transcription factor C1; DMRT like family C1B; Belongs to the DMRT family. 9606.ENSP00000334538,SREK1,624,"Splicing regulatory glutamine/lysine-rich protein 1; Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity)." 9606.ENSP00000334547,TAL2,108,T-cell acute lymphocytic leukemia protein 2; TAL bHLH transcription factor 2. 9606.ENSP00000334560,KRTAP6-2,62,"Keratin-associated protein 6-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334564,POLR3C,534,"DNA-directed RNA polymerase III subunit RPC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during i [...] " 9606.ENSP00000334592,CYP2R1,501,"Vitamin D 25-hydroxylase; Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3)." 9606.ENSP00000334611,TMPRSS11A,421,Transmembrane protease serine 11A; Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest. 9606.ENSP00000334642,PDZD8,1154,"PDZ domain-containing protein 8; Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes. PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer. In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons. Plays an indirect role in the regulation of cell morphology and cytoskeletal organization. May inhibit herpes simplex virus 1 infection at an early stage." 9606.ENSP00000334644,LCE3C,94,"Late cornified envelope protein 3C; A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens." 9606.ENSP00000334650,KCNK18,384,"Potassium channel subfamily K member 18; Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3- 3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring [...] " 9606.ENSP00000334657,TRIM46,759,"Tripartite motif-containing protein 46; Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon. Required for the uniform orientation and maintenance of the parallel microtubule fascicles, which are important for efficient cargo delivery and trafficking in axons. Thereby also required for proper axon specification, the establishment of neuronal polarity and proper neuronal migration; Belongs to the TRIM/RBCC family." 9606.ENSP00000334665,FSCN2,516,"Fascin-2; Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis." 9606.ENSP00000334675,ERCC6L,1250,DNA excision repair protein ERCC-6-like; DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin. Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase. Functions as ATP-dependent DNA translocase. Can promote Holliday junction branch migration (in vitro). 9606.ENSP00000334681,DEFB107A,70,Beta-defensin 107; Has antibacterial activity. 9606.ENSP00000334685,ZNF568,644,"Zinc finger protein 568; Has transcriptional repression activity, partially through the recruitment of the corepressor TRIM28 but has also repression activity independently of this interaction. Essential during embryonic development, where it acts as direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance p [...] " 9606.ENSP00000334696,KRTAP19-7,63,"Keratin-associated protein 19-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334714,IGFN1,3708,Immunoglobulin like and fibronectin type III domain containing 1. 9606.ENSP00000334767,CCDC84,332,Coiled-coil domain-containing protein 84. 9606.ENSP00000334785,TESC,214,"Calcineurin B homologous protein 3; Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the pho [...] " 9606.ENSP00000334798,KRT26,468,"Keratin, type I cytoskeletal 26; Keratin 26." 9606.ENSP00000334801,DHRS4L2,232,Dehydrogenase/reductase SDR family member 4-like 2; Probable oxidoreductase. 9606.ENSP00000334805,H1-7,255,"Testis-specific H1 histone; Essential for normal spermatogenesis and male fertility. Required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm chromatin and the subsequent production of functional sperm. Binds both double-stranded and single- stranded DNA, ATP and protamine-1." 9606.ENSP00000334808,USP16,823,"Ubiquitin carboxyl-terminal hydrolase 16; Specifically deubiquitinates 'Lys-120' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at 'Ser-11' of histone H3 (H3S10ph), and is required for chromosome segregation when cells enter into mitosis. In resting B- and T-lymphocytes, phosphorylation by AURKB leads to enhance its activity, thereby maintaining transcription in resting lymphocytes. Regulates Hox gene expression via histone H2A deubiqu [...] " 9606.ENSP00000334813,RAX,346,Retinal homeobox protein Rx; Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE- 1/Ret 1) in the photoreceptor cell-specific arrestin promoter. 9606.ENSP00000334834,KRTAP13-4,160,"Keratin-associated protein 13-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family." 9606.ENSP00000334836,BMP2K,1161,BMP-2-inducible protein kinase; May be involved in osteoblast differentiation; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. 9606.ENSP00000334844,TMEM216,148,Transmembrane protein 216; Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. 9606.ENSP00000334849,TMEM104,496,Transmembrane protein 104; Belongs to the TMEM104 family. 9606.ENSP00000334851,RGS7BP,257,"Regulator of G-protein signaling 7-binding protein; Regulator of G protein-coupled receptor (GPCR) signaling. Regulatory subunit of the R7-Gbeta5 complexes that acts by controlling the subcellular location of the R7-Gbeta5 complexes. When palmitoylated, it targets the R7-Gbeta5 complexes to the plasma membrane, leading to inhibit G protein alpha subunits. When it is unpalmitoylated, the R7-Gbeta5 complexes undergo a nuclear/cytoplasmic shuttling. May also act by controlling the proteolytic stability of R7 proteins, probably by protecting them from degradation." 9606.ENSP00000334853,ZNF555,628,Zinc finger protein 555; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000334854,ZACN,412,Zinc-activated ligand-gated ion channel; Zinc-activated ligand-gated ion channel. 9606.ENSP00000334866,KRTAP15-1,137,"Keratin-associated protein 15-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334869,LCE1A,110,Late cornified envelope protein 1A; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000334872,MT1F,61,Metallothionein-1F; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family. 9606.ENSP00000334876,GRK1,563,"Rhodopsin kinase GRK1; Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade. This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity)." 9606.ENSP00000334879,SOWAHB,793,Ankyrin repeat domain-containing protein SOWAHB; Sosondowah ankyrin repeat domain family member B; Belongs to the SOWAH family. 9606.ENSP00000334910,PDE2A,941,"cGMP-dependent 3',5'-cyclic phosphodiesterase; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Plays an important role in growth and invasion of malignant melanoma cells (e.g. pseudomyxoma peritonei (PMP) cell line)." 9606.ENSP00000334922,KRTAP9-4,154,"Keratin-associated protein 9-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334928,PTPRB,2215,"Receptor-type tyrosine-protein phosphatase beta; Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growt [...] " 9606.ENSP00000334934,OR9Q1,310,Olfactory receptor 9Q1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000334938,UPK3B,276,Putative postmeiotic segregation increased 2-like protein 11; Uroplakin 3B. 9606.ENSP00000334940,GGN,652,Gametogenetin; May be involved in spermatogenesis. 9606.ENSP00000334941,PTPRU,1446,Receptor-type tyrosine-protein phosphatase U; Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis; Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. 9606.ENSP00000334952,ADGRA3,1321,Adhesion G protein-coupled receptor A3; Orphan receptor that may have a role in planar cell polarity pathway; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000334958,CARMIL2,1435,"Capping protein, Arp2/3 and myosin-I linker protein 2; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization. Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations. Involved as well in cell migration and invadopodia formation during woun [...] " 9606.ENSP00000334974,C3orf70,250,UPF0524 protein C3orf70; May play a role in neuronal and neurobehavioral development. 9606.ENSP00000334985,KRTAP19-5,72,"Keratin-associated protein 19-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000334996,CCIN,588,Calicin; Possible morphogenetic cytoskeletal element in spermiogenic differentiation. 9606.ENSP00000334998,MT1B,61,Metallothionein-1B; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. 9606.ENSP00000335006,LCE3A,89,"Late cornified envelope protein 3A; A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens ; Belongs to the LCE family." 9606.ENSP00000335008,SPIN2B,258,"Spindlin-2B; Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors. Exhibits H3K4me3-binding activity." 9606.ENSP00000335017,PRR30,412,Proline-rich protein 30; Proline rich 30. 9606.ENSP00000335024,SERPINA11,422,Serpin family A member 11. 9606.ENSP00000335025,OR5D18,313,Olfactory receptor 5D18; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000335029,RASA3,834,Ras GTPase-activating protein 3; Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor. 9606.ENSP00000335038,VSTM2B,285,V-set and transmembrane domain containing 2B. 9606.ENSP00000335040,NIBAN3,697,Niban apoptosis regulator 3; Belongs to the Niban family. 9606.ENSP00000335042,ZNF486,463,Zinc finger protein 486; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000335044,ARID2,1835,AT-rich interactive domain-containing protein 2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes. 9606.ENSP00000335055,WASF3,502,Wiskott-Aldrich syndrome protein family member 3; Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. 9606.ENSP00000335060,HPDL,371,4-hydroxyphenylpyruvate dioxygenase-like protein; May have dioxygenase activity; Belongs to the 4HPPD family. 9606.ENSP00000335062,PDCD1,288,"Programmed cell death protein 1; Inhibitory receptor on antigen activated T-cells that plays a critical role in induction and maintenance of immune tolerance to self. Delivers inhibitory signals upon binding to ligands CD274/PDCD1L1 and CD273/PDCD1LG2. Following T-cell receptor (TCR) engagement, PDCD1 associates with CD3-TCR in the immunological synapse and directly inhibits T-cell activation (By similarity). Suppresses T-cell activation through the recruitment of PTPN11/SHP-2: following ligand-binding, PDCD1 is phosphorylated within the ITSM motif, leading to the recruitment of the pr [...] " 9606.ENSP00000335074,GHRL,117,"Appetite-regulating hormone; Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation." 9606.ENSP00000335076,EDARADD,215,Ectodysplasin-A receptor-associated adapter protein; Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B. 9606.ENSP00000335082,FAM91A1,838,Protein FAM91A1; As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1. 9606.ENSP00000335091,ZNRF1,227,"E3 ubiquitin-protein ligase ZNRF1; E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 f [...] " 9606.ENSP00000335094,TMEM17,198,"Transmembrane protein 17; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity); Belongs to the TMEM17 family." 9606.ENSP00000335147,ANKRD37,158,Ankyrin repeat domain 37. 9606.ENSP00000335153,HSP90AA1,854,"Heat shock protein HSP 90-alpha; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a ra [...] " 9606.ENSP00000335156,ADGRD2,972,Adhesion G-protein coupled receptor D2; Orphan receptor; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000335158,GPR142,462,Probable G-protein coupled receptor 142; Orphan receptor. 9606.ENSP00000335191,TBX10,385,T-box transcription factor TBX10; Probable transcriptional regulator involved in developmental processes. 9606.ENSP00000335193,VPS39,886,"Vam6/Vps39-like protein; Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2- dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation." 9606.ENSP00000335196,GLDN,551,"Gliomedin shedded ectodomain; Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of [...] " 9606.ENSP00000335201,BCDIN3D,292,"RNA 5'-monophosphate methyltransferase; O-methyltransferase that specifically monomethylates 5'- monophosphate of cytoplasmic histidyl tRNA, acting as a capping enzyme. Less efficiently, also methylates the 5' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing. The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre- miRNAs by DICER1. Able to mediate methylation of pre-miR-145, as well as other pre-miRNAs. There is some controversy about the methylation [...] " 9606.ENSP00000335203,ATP5IF1,106,"ATPase inhibitor, mitochondrial; Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron i [...] " 9606.ENSP00000335246,ENTPD5,428,"Ectonucleoside triphosphate diphosphohydrolase 5; Uridine diphosphatase (UDPase) that promotes protein N- glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thia [...] " 9606.ENSP00000335247,STARD10,291,START domain-containing protein 10; May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes. 9606.ENSP00000335255,ANGPTL5,388,Angiopoietin-related protein 5; Angiopoietin like 5. 9606.ENSP00000335261,TMLHE,421,"Trimethyllysine dioxygenase, mitochondrial; Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML)." 9606.ENSP00000335281,DEFB105B,78,Defensin beta 105B. 9606.ENSP00000335285,C1QL4,238,Complement C1q-like protein 4; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity). 9606.ENSP00000335292,SLC51B,128,"Organic solute transporter subunit beta; Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids. Modulates SLC51A glycosylation, membrane trafficking and stability activities." 9606.ENSP00000335304,DLST,453,2-oxoglutarate dehydrogenase E2 component (dihydrolipoamide succinyltransferase); Dihydrolipoamide succinyltransferase (E2) component of the 2- oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl- CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone s [...] 9606.ENSP00000335306,DPPA4,304,Developmental pluripotency-associated protein 4; May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage. 9606.ENSP00000335307,DEFB106A,65,Defensin beta 106A. 9606.ENSP00000335320,BCL9L,1499,B-cell CLL/lymphoma 9-like protein; Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity); Belongs to the BCL9 family. 9606.ENSP00000335321,SF3B1,1304,"Splicing factor 3B subunit 1; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity). May also be involved [...] " 9606.ENSP00000335325,CCDC73,1079,Coiled-coil domain containing 73. 9606.ENSP00000335357,CDKN3,212,Cyclin-dependent kinase inhibitor 3; May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at 'Thr-160' in a cyclin-dependent manner. 9606.ENSP00000335358,LCE3B,95,"Late cornified envelope protein 3B; A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens." 9606.ENSP00000335371,TRAPPC11,1133,Trafficking protein particle complex subunit 11; Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. 9606.ENSP00000335382,DEFB128,93,Beta-defensin 128; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000335384,ZPBP2,338,Zona pellucida-binding protein 2; Is implicated in sperm-oocyte interaction during fertilization. 9606.ENSP00000335392,SPATA12,190,Spermatogenesis-associated protein 12; Spermatogenesis associated 12. 9606.ENSP00000335397,RTN4RL2,420,"Reticulon-4 receptor-like 2; Cell surface receptor that plays a functionally redundant role in the inhibition of neurite outgrowth mediated by MAG (By similarity). Plays a functionally redundant role in postnatal brain development. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Does not seem to play a significant role in regulating axon regeneration in the adult central nervous system. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG (By similarity). Like other family members, pl [...] " 9606.ENSP00000335437,ZNF20,532,Zinc finger protein 20; May be involved in transcriptional regulation. 9606.ENSP00000335444,NME9,330,Thioredoxin domain-containing protein 6; May be a regulator of microtubule physiology; Belongs to the NDK family. 9606.ENSP00000335463,KNL1,2342,"Kinetochore scaffold 1; Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore." 9606.ENSP00000335481,EMID1,443,EMI domain containing 1. 9606.ENSP00000335493,FOXD2,495,Forkhead box protein D2; Probable transcription factor involved in embryogenesis and somatogenesis. 9606.ENSP00000335500,C7orf57,295,Uncharacterized protein C7orf57; Chromosome 7 open reading frame 57. 9606.ENSP00000335503,KRTAP20-1,56,"Keratin-associated protein 20-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 20 family." 9606.ENSP00000335538,DEFB131A,70,"Beta-defensin 131A; Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion ; Belongs to the beta-defensin family." 9606.ENSP00000335557,SLX4IP,408,SLX4 interacting protein. 9606.ENSP00000335560,ARHGEF25,619,Rho guanine nucleotide exchange factor 25; May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity). 9606.ENSP00000335565,KRTAP10-8,259,"Keratin-associated protein 10-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family." 9606.ENSP00000335566,KRTAP21-1,79,"Keratin-associated protein 21-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000335567,KRTAP19-4,84,"Keratin-associated protein 19-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 19 family." 9606.ENSP00000335575,OR1J2,313,Olfactory receptor 1J2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000335578,ARGFX,315,Arginine-fifty homeobox; Putative transcription factor. 9606.ENSP00000335595,TCP11L1,509,T-complex protein 11-like protein 1; T-complex 11 like 1. 9606.ENSP00000335605,CMTM7,175,CKLF like MARVEL transmembrane domain containing 7. 9606.ENSP00000335612,SPATA21,469,Spermatogenesis-associated protein 21; Involved in the differentiation of haploid spermatids. 9606.ENSP00000335614,PPFIA3,1194,"Liprin-alpha-3; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates." 9606.ENSP00000335615,BTBD7,1132,"BTB/POZ domain-containing protein 7; Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell- scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity)." 9606.ENSP00000335620,GSTA1,222,"Glutathione S-transferase A1, N-terminally processed; Glutathione S-transferase that catalyzes the nucleophilic attack of the sulfur atom of glutathione on the electrophilic groups of a wide range of exogenous and endogenous compounds (Probable). Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2). It also catalyzes the isomerization of D5-androstene-3,17-dione (AD) into D4-androstene- 3,17-dione and may therefore play an important role in hormone biosynthesis. Through its glutathione-dependent peroxidase activity toward the f [...] " 9606.ENSP00000335623,VSIG10L,867,V-set and immunoglobulin domain containing 10 like. 9606.ENSP00000335628,SPDYA,313,"Speedy protein A; Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2. Contributes to CDK2 activation without promoting CDK2 phosphorylation, by inducing a conformation change of the CDK2 T-loop that obstructs the substrate- binding cleft prior to kinase activation. Mediates cell survival during the DNA damage process through activation of CDK2. Belongs to the Speedy/Ringo family." 9606.ENSP00000335632,CHP1,195,"Calcineurin B homologous protein 1; Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane- type Na(+)/H(+) ex [...] " 9606.ENSP00000335636,NAA20,178,"N-alpha-acetyltransferase 20; Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration; Belongs to the acetyltransferase family. ARD1 subfamily." 9606.ENSP00000335651,FSD2,749,Fibronectin type III and SPRY domain containing 2. 9606.ENSP00000335655,FMNL3,1027,"Formin-like protein 3; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement; Belongs to the formin homology family." 9606.ENSP00000335660,KRTAP19-2,52,"Keratin-associated protein 19-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 19 family." 9606.ENSP00000335675,PRELID2,189,PRELI domain containing 2. 9606.ENSP00000335677,FOXK2,660,"Forkhead box protein K2; Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'- GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context. Together with FOXK1, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2 [...] " 9606.ENSP00000335808,PSME3IP1,254,"PSME3-interacting protein; Promotes the association of the proteasome activator complex subunit PSME3 with the 20S proteasome and regulates its activity. Inhibits PSME3-mediated degradation of some proteasome substrates, probably by affecting their diffusion rate into the catalytic chamber of the proteasome. Also inhibits the interaction of PSME3 with COIL, inhibits accumulation of PSME3 in Cajal bodies and positively regulates the number of Cajal bodies in the nucleus." 9606.ENSP00000336127,TTC7B,843,"Tetratricopeptide repeat protein 7B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions." 9606.ENSP00000336524,CEP63,703,"Centrosomal protein of 63 kDa; Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to [...] " 9606.ENSP00000336528,NR1I2,473,"Nuclear receptor subfamily 1 group I member 2; Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds [...] " 9606.ENSP00000336571,CLDN2,230,"Claudin-2; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000336587,CDR2L,465,Cerebellar degeneration related protein 2 like. 9606.ENSP00000336606,RAD54B,910,DNA repair and recombination protein RAD54B; Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group; Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000336655,STRADA,431,"STE20-related kinase adapter protein alpha; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation." 9606.ENSP00000336661,LRRC71,559,Leucine-rich repeat-containing protein 71; Leucine rich repeat containing 71. 9606.ENSP00000336666,AP1S1,158,AP-1 complex subunit sigma-1A; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. 9606.ENSP00000336687,CBX3,183,"Chromobox protein homolog 3; Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. May contribute to the association of the heterochromatin with the inner nuclear membrane through its interaction with lamin B receptor (LBR). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation, mediates the [...] " 9606.ENSP00000336693,ABHD12B,362,Protein ABHD12B; Abhydrolase domain containing 12B; Belongs to the serine esterase family. 9606.ENSP00000336701,RAD51C,376,"DNA repair protein RAD51 homolog 3; Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD21 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1- BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the int [...] " 9606.ENSP00000336702,EIF5A,184,"Eukaryotic translation initiation factor 5A-1; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF-alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an import [...] " 9606.ENSP00000336712,TNPO1,898,"Transportin-1; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis [...] " 9606.ENSP00000336721,LARP1,1019,"La-related protein 1; RNA-binding protein that regulates the translation of specific target mRNA species downstream of the mTORC1 complex, in function of growth signals and nutrient availability. Interacts on the one hand with the 3' poly-A tails that are present in all mRNA molecules, and on the other hand with the 7-methylguanosine cap structure of mRNAs containing a 5' terminal oligopyrimidine (5'TOP) motif, which is present in mRNAs encoding ribosomal proteins and several components of the translation machinery. The interaction with the 5' end of mRNAs containing a 5'TOP motif lead [...] " 9606.ENSP00000336724,TBC1D22A,517,TBC1 domain family member 22A; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000336729,GALNT16,558,"Polypeptide N-acetylgalactosaminyltransferase 16; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000336733,ST6GALNAC4,302,"N-acetylgalactosaminide alpha-2,6-sialyltransferase (sialyltransferase 7D); Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. Prefers glycoproteins to glycolipids (By similarity)." 9606.ENSP00000336740,LIMK1,647,"LIM domain kinase 1; Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways. Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop. LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin-2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton. In [...] " 9606.ENSP00000336741,DHX15,795,"Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA. In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. Belongs to the DEAD box helicase family. DEAH subfamily. DDX15/PRP43 sub-subfamily." 9606.ENSP00000336747,HIP1,1037,Huntingtin-interacting protein 1; Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)- mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases [...] 9606.ENSP00000336750,SUPT7L,414,"SPT7 like, STAGA complex subunit gamma." 9606.ENSP00000336752,FIP1L1,594,"Pre-mRNA 3'-end-processing factor FIP1; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex." 9606.ENSP00000336762,ANG,147,"Angiogenin; Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo." 9606.ENSP00000336769,KIR2DL1,348,Killer cell immunoglobulin-like receptor 2DL1; Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis; Belongs to the immunoglobulin superfamily. 9606.ENSP00000336775,SYNM,1565,"Synemin; Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells." 9606.ENSP00000336783,TNRC6C,1726,Trinucleotide repeat-containing gene 6C protein; Plays a role in RNA-mediated gene silencing by micro-RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes. 9606.ENSP00000336790,ATF4,351,"Cyclic AMP-dependent transcription factor ATF-4; Transcriptional activator. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Cooperates with FOXO1 in osteoblasts to regulate glucose homeostasis through suppression of beta-cell production and decrease in insulin production (By similarity). It binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I. Regulates the induction of DDIT3/CHOP and asparagine synthetase (ASNS) in response to endoplasmic reticulum (ER) stress. In concert wit [...] " 9606.ENSP00000336799,TUBA1B,451,"Detyrosinated tubulin alpha-1B chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000336800,KLHL25,589,Kelch-like protein 25; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for translational homeostasis. The BCR(KLHL25) ubiquitin ligase complex acts by mediating ubiquitination of hypophosphorylated EIF4EBP1 (4E-BP1): ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) probably serves as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. The BCR(KLHL25) complex does not target EIF4EBP1 (4E-BP1) when it is hyperphosphorylated or associated with eIF4E. 9606.ENSP00000336817,LUZP2,346,Leucine zipper protein 2. 9606.ENSP00000336829,FGG,453,"Fibrinogen gamma chain; Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re- epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhan [...] " 9606.ENSP00000336831,PLS1,629,Plastin-1; Actin-bundling protein in the absence of calcium. 9606.ENSP00000336842,ACTR8,624,"Actin-related protein 8; Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize; Belongs to the actin family. ARP8 subfamily." 9606.ENSP00000336861,IQCH,1027,IQ domain-containing protein H; May play a regulatory role in spermatogenesis. 9606.ENSP00000336866,RBBP9,186,Serine hydrolase RBBP9; Serine hydrolase whose substrates have not been identified yet. May negatively regulate basal or autocrine TGF-beta signaling by suppressing SMAD2-SMAD3 phosphorylation. May play a role in the transformation process due to its capacity to confer resistance to the growth-inhibitory effects of TGF-beta through interaction with RB1 and the subsequent displacement of E2F1. 9606.ENSP00000336868,CENPA,140,Histone H3-like centromeric protein A; Histone H3-like nucleosomal protein that is specifically found in centromeric nucleosomes. Replaces conventional H3 in the nucleosome core of centromeric chromatin at the inner plate of the kinetochore. The presence of CENPA subtly modifies the nucleosome structure and the way DNA is wrapped around the nucleosome and gives rise to protruding DNA ends that are less well-ordered and rigid compared to nucleosomes containing histone H3. May serve as an epigenetic mark that propagates centromere identity through replication and cell division. Required [...] 9606.ENSP00000336887,SLC39A9,307,Zinc transporter ZIP9; May act as a zinc-influx transporter. 9606.ENSP00000336894,NAB1,487,NGFI-A-binding protein 1; Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. 9606.ENSP00000336914,FGD3,725,"FYVE, RhoGEF and PH domain-containing protein 3; Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity)." 9606.ENSP00000336923,ARHGAP10,786,Rho GTPase-activating protein 10; GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity). 9606.ENSP00000336931,PNRC1,327,Proline-rich nuclear receptor coactivator 1; Nuclear receptor coactivator. May play a role in signal transduction. 9606.ENSP00000336994,CLPTM1,669,Cleft lip and palate transmembrane protein 1; May play a role in T-cell development; Belongs to the CLPTM1 family. 9606.ENSP00000337014,HJV,426,Hemojuvelin; Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis. Belongs to the repulsive guidance molecule (RGM) family. 9606.ENSP00000337040,UNC119,240,"Protein unc-119 homolog A; Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Proba [...] " 9606.ENSP00000337053,SEL1L,794,"Protein sel-1 homolog 1; Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling." 9606.ENSP00000337060,NME1,177,"Nucleoside diphosphate kinase A; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein-coupled receptor endocytosis, and gene expression. Required for n [...] " 9606.ENSP00000337065,CXCL14,111,"C-X-C motif chemokine 14; Potent chemoattractant for neutrophils, and weaker for dendritic cells. Not chemotactic for T-cells, B-cells, monocytes, natural killer cells or granulocytes. Does not inhibit proliferation of myeloid progenitors in colony formation assays." 9606.ENSP00000337081,ZNF112,913,Zinc finger protein 112; May be involved in transcriptional regulation. 9606.ENSP00000337088,MEN1,615,"Menin; Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the [...] " 9606.ENSP00000337103,CHAT,748,Choline O-acetyltransferase; Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Belongs to the carnitine/choline acetyltransferase family. 9606.ENSP00000337122,ZNF354A,605,Zinc finger protein 354A; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000337128,EDN3,238,Endothelin-3; Endothelins are endothelium-derived vasoconstrictor peptides. 9606.ENSP00000337133,SERPINA9,435,Serpin A9; Protease inhibitor that inhibits trypsin and trypsin-like serine proteases (in vitro). Inhibits plasmin and thrombin with lower efficiency (in vitro). 9606.ENSP00000337146,ENOX2,610,Protein disulfide-thiol oxidoreductase; May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock. 9606.ENSP00000337168,EPB41L1,881,"Band 4.1-like protein 1; May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases." 9606.ENSP00000337180,AZIN1,448,"Antizyme inhibitor 1; Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding. Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production." 9606.ENSP00000337194,PRPF4B,1007,Serine/threonine-protein kinase PRP4 homolog; Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. 9606.ENSP00000337224,LRAT,230,"Lecithin retinol acyltransferase; Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis- retinaldehyde which is the chromophore for rhodopsin and t [...] " 9606.ENSP00000337226,CDCA4,241,Cell division cycle-associated protein 4; May participate in the regulation of cell proliferation through the E2F/RB pathway. May be involved in molecular regulation of hematopoietic stem cells and progenitor cell lineage commitment and differentiation (By similarity). 9606.ENSP00000337261,ARHGEF1,927,"Rho guanine nucleotide exchange factor 1; Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation." 9606.ENSP00000337289,CENPQ,268,"Centromere protein Q; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Plays an important role in chromosome congression and in the recruitment of CENP-O complex (which comprises CENPO, CENPP, CENPQ and CENPU), CENPE and PLK1 to the kinetochores. Belongs to the CENP-Q/OKP1 family." 9606.ENSP00000337332,SIRT6,355,NAD-dependent protein deacetylase sirtuin-6; NAD-dependent protein deacetylase. Has deacetylase activity towards histone H3K9Ac and H3K56Ac. Modulates acetylation of histone H3 in telomeric chromatin during the S-phase of the cell cycle. Deacetylates histone H3K9Ac at NF-kappa-B target promoters and may down-regulate the expression of a subset of NF-kappa-B target genes. Acts as a corepressor of the transcription factor HIF1A to control the expression of multiple glycolytic genes to regulate glucose homeostasis. Required for genomic stability. Regulates the production of TNF protein. H [...] 9606.ENSP00000337335,SLC22A8,542,"Solute carrier family 22 member 8; Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone-3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA). Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family." 9606.ENSP00000337353,TDP1,608,"Tyrosyl-DNA phosphodiesterase 1; DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead- end complexes between DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3'-phosphoglycolates on protruding 3' ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strand DNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the [...] " 9606.ENSP00000337354,LIPA,399,Lysosomal acid lipase/cholesteryl ester hydrolase; Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor- mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation; Belongs to the AB hydrolase superfamily. Lipase family. 9606.ENSP00000337358,HDHD5,423,Haloacid dehalogenase like hydrolase domain containing 5. 9606.ENSP00000337368,ZNF224,707,"Zinc finger protein 224; May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells. Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000337383,NLRP3,1036,"NACHT, LRR and PYD domains-containing protein 3; As the sensor component of the NLRP3 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP3, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP3 inflammasome is also required for HMGB1 secretion. The active cytokin [...] " 9606.ENSP00000337386,ZFP36L1,338,"mRNA decay activator protein ZFP36L1; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA- binding adapter protein to communicate signaling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE- mediate [...] " 9606.ENSP00000337393,UXT,169,"Protein UXT; Involved in gene transcription regulation. Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription. Together with URI1, associates with chromatin to the NKX3-1 promoter region. Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm. May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity. Potential component of mitochondrial-associated LRPPRC, a multidomain orga [...] " 9606.ENSP00000337425,HYAL3,417,"Hyaluronidase-3; Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro." 9606.ENSP00000337432,IL17F,163,"Interleukin-17F; Ligand for IL17RA and IL17RC. The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC. Involved in stimulating the production of other cytokines such as IL6, IL8 and CSF2, and in regulation of cartilage matrix turnover. Also involved in stimulating the proliferation of peripheral blood mononuclear cells and T-cells and in inhibition of angiogenesis. Plays a role in the induction of neutrophilia in the lungs and in the exacerbation of antigen-induced pulmonary allergic inflammation (By similarity). Belongs to the I [...] " 9606.ENSP00000337439,DACT1,836,"Dapper homolog 1; Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane l [...] " 9606.ENSP00000337443,NXN,435,"Nucleoredoxin; Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity). Belongs to the nucleoredoxin family." 9606.ENSP00000337445,ELAC2,826,"Zinc phosphodiesterase ELAC protein 2; Zinc phosphodiesterase, which displays mitochondrial tRNA 3'- processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA." 9606.ENSP00000337446,STARD3,445,"StAR-related lipid transfer protein 3; Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes. Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB. Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes. May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membr [...] " 9606.ENSP00000337450,CYP3A7,503,"Cytochrome P450 3A7; A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins during embryogenesis. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH-- hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes 3beta- hydroxyandrost-5-en-17-one (dehydroepiandrosterone, DHEA), a precursor in the biosynthesis of androgen and estrogen steroid hormones. Exhibits high cataly [...] " 9606.ENSP00000337451,EPHA3,983,"Ephrin type-A receptor 3; Receptor tyrosine kinase which binds promiscuously membrane- bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in ca [...] " 9606.ENSP00000337452,NIPA1,329,"Magnesium transporter NIPA1; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity); Belongs to the NIPA family." 9606.ENSP00000337466,WFDC10B,89,Protein WFDC10B; WAP four-disulfide core domain 10B. 9606.ENSP00000337473,ZNF324B,544,Zinc finger protein 324B; May be involved in transcriptional regulation. 9606.ENSP00000337477,SINHCAF,221,"SIN3-HDAC complex-associated factor; Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway. Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming (By sim [...] " 9606.ENSP00000337478,ARL17A,177,"ADP-ribosylation factor-like protein 17; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity)." 9606.ENSP00000337500,PCGF5,256,"Polycomb group RING finger protein 5; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity. Plays a redundant role with PCGF3 as part of a PRC1-like complex that mediates mono [...] " 9606.ENSP00000337501,NRIP2,281,Nuclear receptor-interacting protein 2; Down-regulates transcriptional activation by nuclear receptors such as NR1F2. 9606.ENSP00000337510,FBXO40,709,F-box only protein 40; Probable substrate-recognition component of the SCF (SKP1- CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis. 9606.ENSP00000337512,CMTR2,770,Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG- capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs. 9606.ENSP00000337513,SRA1,236,Steroid receptor RNA activator 1; Functional RNA which acts as a transcriptional coactivator that selectively enhances steroid receptor-mediated transactivation ligand-independently through a mechanism involving the modulating N- terminal domain (AF-1) of steroid receptors. Also mediates transcriptional coactivation of steroid receptors ligand-dependently through the steroid-binding domain (AF-2). Enhances cellular proliferation and differentiation and promotes apoptosis in vivo. May play a role in tumorigenesis. Belongs to the SRA1 family. 9606.ENSP00000337555,ZNF548,545,Zinc finger protein 548; May be involved in transcriptional regulation. 9606.ENSP00000337572,DGKH,1220,Diacylglycerol kinase eta; Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization. 9606.ENSP00000337587,GGTLC1,225,Gamma-glutamyltransferase light chain 1. 9606.ENSP00000337598,LIMS1,387,"LIM and senescent cell antigen-like-containing domain protein 1; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation." 9606.ENSP00000337618,NIPA2,360,Magnesium transporter NIPA2; Acts as a selective Mg(2+) transporter; Belongs to the NIPA family. 9606.ENSP00000337623,RNASEH2B,312,"Ribonuclease H2 subunit B; Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes." 9606.ENSP00000337632,SARNP,210,"SAP domain-containing ribonucleoprotein; Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre- mRNA. TREX is [...] " 9606.ENSP00000337641,PPP2R5E,467,"Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; Belongs to the phosphatase 2A regulatory subunit B56 family." 9606.ENSP00000337675,EBAG9,213,Receptor-binding cancer antigen expressed on SiSo cells; May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases. 9606.ENSP00000337688,SEC62,399,"Translocation protein SEC62; Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen." 9606.ENSP00000337691,MAPK15,544,"Mitogen-activated protein kinase 15; Atypical MAPK protein that regulates several process such as autophagy, ciliogenesis, protein trafficking/secretion and genome integrity, in a kinase activity-dependent manner. Controls both, basal and starvation-induced autophagy throught its interaction with GABARAP, MAP1LC3B and GABARAPL1 leading to autophagosome formation, SQSTM1 degradation and reduced MAP1LC3B inhibitory phosphorylation. Regulates primary cilium formation and the localization of ciliary proteins involved in cilium structure, transport, and signaling. Prevents the relocation of [...] " 9606.ENSP00000337701,PNPLA2,504,"Patatin-like phospholipase domain-containing protein 2; Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion." 9606.ENSP00000337731,CIDEB,219,Cell death activator CIDE-B; Activates apoptosis. 9606.ENSP00000337732,RUNDC3B,473,RUN domain containing 3B. 9606.ENSP00000337733,KLK5,293,Kallikrein-5; May be involved in desquamation; Belongs to the peptidase S1 family. Kallikrein subfamily. 9606.ENSP00000337746,ISYNA1,558,Inositol-3-phosphate synthase 1; Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1- phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds. 9606.ENSP00000337797,PIDD1,910,"P53-induced death domain-containing protein 1; Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis. Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis. Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B." 9606.ENSP00000337804,SPAG17,2223,"Sperm-associated antigen 17; Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts." 9606.ENSP00000337816,MMP25,562,Matrix metalloproteinase-25; May activate progelatinase A. 9606.ENSP00000337838,RTN4,1192,"Reticulon-4; Required to induce the formation and stabilization of endoplasmic reticulum (ER) tubules. They regulate membrane morphogenesis in the ER by promoting tubular ER production. They influence nuclear envelope expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins. However each isoform have specific functions mainly depending on their tissue expression specificities (Probable). [Isoform B]: Mainly function in endothelial cells and vascular smooth muscle cells, is also involved in immune system regulation (Probable). Modulator of vas [...] " 9606.ENSP00000337850,KPTN,436,"KICSTOR complex protein kaptin; As part of the KICSTOR complex functions in the amino acid- sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose." 9606.ENSP00000337852,ZNF576,170,Zinc finger protein 576; May be involved in transcriptional regulation. 9606.ENSP00000337854,HEXD,585,Hexosaminidase D; Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N- acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates. 9606.ENSP00000337862,OVOL1,267,Putative transcription factor Ovo-like 1; Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity). 9606.ENSP00000337889,MXD4,209,Max dimerization protein 4; Transcriptional repressor. Binds with MAX to form a sequence- specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity). 9606.ENSP00000337907,MPP7,576,MAGUK p55 subfamily member 7; Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact; Belongs to the MAGUK family. 9606.ENSP00000337946,PACRG,296,"Parkin coregulated gene protein; Suppresses cell death induced by accumulation of unfolded Pael receptor (Pael-R, a substrate of Parkin). Facilitates the formation of inclusions consisting of Pael-R, molecular chaperones, protein degradation molecules and itself when proteasome is inhibited. May play an important role in the formation of Lewy bodies and protection of dopaminergic neurons against Parkinson disease." 9606.ENSP00000337949,HTR7,479,"5-hydroxytryptamine receptor 7; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase." 9606.ENSP00000337972,GDPD5,605,"Glycerophosphodiester phosphodiesterase domain-containing protein 5; Glycerophosphodiester phosphodiesterase that promotes neurite formation and drives spinal motor neuron differentiation (By similarity). Mediates the cleavage of glycosylphosphatidylinositol (GPI) anchor of target proteins: removes the GPI-anchor of RECK, leading to release RECK from the plasma membrane (By similarity). May contribute to the osmotic regulation of cellular glycerophosphocholine (By similarity)." 9606.ENSP00000337976,SUV39H1,423,"Histone-lysine N-methyltransferase SUV39H1; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also requir [...] " 9606.ENSP00000337991,SPTY2D1,685,"Protein SPT2 homolog; Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin. Required for normal chromatin refolding in the coding region of transcribed genes, and for the suppression of spurious transcription. Binds DNA and histones and promotes nucleosome assembly (in vitro). Facilitates formation of tetrameric histone complexes containing histone H3 and H4. Modulates RNA polymerase 1-mediated transcription (By similarity). Binds DNA, with a preference for branched DNA species, such as Y-form DNA and Holli [...] " 9606.ENSP00000337998,NCKAP5L,1334,Nck-associated protein 5-like; Regulates microtubule organization and stabilization. Promotes microtubule growth and bundling formation and stabilizes microtubules by increasing intense acetylation of microtubules. Both tubulin-binding and homodimer formation are required for NCKAP5L-mediated microtubule bundle formation. 9606.ENSP00000338010,IL21R,538,Interleukin-21 receptor; This is a receptor for interleukin-21. 9606.ENSP00000338013,CCDC183,534,Coiled-coil domain containing 183. 9606.ENSP00000338019,DNAJB2,324,"DnaJ homolog subfamily B member 2; Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family. In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins. Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes. Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein deg [...] " 9606.ENSP00000338030,STARD7,370,"StAR-related lipid transfer protein 7, mitochondrial; May play a protective role in mucosal tissues by preventing exaggerated allergic responses." 9606.ENSP00000338034,SPRYD4,207,SPRY domain containing 4. 9606.ENSP00000338039,PSMF1,271,Proteasome inhibitor PI31 subunit; Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28. Belongs to the proteasome inhibitor PI31 family. 9606.ENSP00000338057,MRPL30,161,Mitochondrial ribosomal protein L30. 9606.ENSP00000338082,HBG2,147,"Hemoglobin subunit gamma-2; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains." 9606.ENSP00000338093,TARS3,802,"Threonine--tRNA ligase 2, cytoplasmic; Catalyzes the attachment of threonine to tRNA(Thr) in a two- step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post- transfer stage; Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000338127,TESK1,626,Dual specificity testis-specific protein kinase 1; Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Probably plays a central role at and after the meiotic phase of spermatogenesis (By similarity). 9606.ENSP00000338130,KLRD1,179,Natural killer cells antigen CD94; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. 9606.ENSP00000338157,ZBTB16,673,Zinc finger and BTB domain-containing protein 16; Acts as a transcriptional repressor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate- recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins ; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000338164,TMEM217,229,Transmembrane protein 217. 9606.ENSP00000338165,TMEM39B,492,Transmembrane protein 39B; Belongs to the TMEM39 family. 9606.ENSP00000338171,SKAP1,359,Src kinase-associated phosphoprotein 1; Positively regulates T-cell receptor signaling by enhancing the MAP kinase pathway. Required for optimal conjugation between T- cells and antigen-presenting cells by promoting the clustering of integrin ITGAL on the surface of T-cells. May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells. Belongs to the SKAP family. 9606.ENSP00000338173,PUM2,1064,"Pumilio homolog 2; Sequence-specific RNA-binding protein that acts as a post- transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'- UGUANAUA-3', that is related to the Nanos Response Element (NRE) (,. Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation- independent repression by promoting accessibility of miRNAs. Acts as a pos [...] " 9606.ENSP00000338185,PLCB1,1216,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes." 9606.ENSP00000338186,EED,466,"Polycomb protein EED; Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED- EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two ep [...] " 9606.ENSP00000338191,SNTB2,540,Beta-2-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN. 9606.ENSP00000338207,LMO1,156,Rhombotin-1; May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors. 9606.ENSP00000338217,ZNF532,1301,Zinc finger protein 532; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000338235,MTDH,582,"Protein LYRIC; Downregulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance." 9606.ENSP00000338258,CDC42EP4,356,"Cdc42 effector protein 4; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation, when overexpressed in fibroblasts; Belongs to the BORG/CEP family." 9606.ENSP00000338260,APOL4,351,Apolipoprotein L4; May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity). 9606.ENSP00000338272,HEY1,308,"Hairy/enhancer-of-split related with YRPW motif protein 1; Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses tra [...] " 9606.ENSP00000338276,CRISP1,249,Cysteine-rich secretory protein 1; May have a role in sperm-egg fusion and maturation; Belongs to the CRISP family. 9606.ENSP00000338283,NPAS2,824,"Neuronal PAS domain-containing protein 2; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, [...] " 9606.ENSP00000338290,GZF1,711,GDNF-inducible zinc finger protein 1; Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression. 9606.ENSP00000338330,PAQR6,351,"Membrane progestin receptor delta; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(s) mediated pathway. Involved in neurosteroid inhibition of apoptosis. May be involved in regulating rapid P4 signaling in the nervous system. Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone. Belongs to the ADIPOR family." 9606.ENSP00000338343,SGCD,290,"Delta-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix." 9606.ENSP00000338348,UBE2G2,165,Ubiquitin-conjugating enzyme E2 G2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'- linked polyubiquitination. Involved in endoplasmic reticulum-associated degradation (ERAD). 9606.ENSP00000338352,NUDT4,181,"Diphosphoinositol polyphosphate phosphohydrolase NUDT4B; Cleaves a beta-phosphate from the diphosphate groups in PP- InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5- phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA; Belongs to the Nudix hydrolase fami [...] " 9606.ENSP00000338369,CELA3B,270,Chymotrypsin-like elastase family member 3B; Efficient protease with alanine specificity but only little elastolytic activity. 9606.ENSP00000338389,MRPL35,188,Mitochondrial ribosomal protein L35. 9606.ENSP00000338413,UBA1,1058,"Ubiquitin-like modifier-activating enzyme 1; Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system. Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites." 9606.ENSP00000338487,MGAT4B,563,"Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B; Glycosyltransferase that participates in the transfer of N- acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Has lower affinities for donors or acceptors than MGAT4A, suggesting that, under physiological conditions, it is not the main contributor in N-glycan biosynthesis." 9606.ENSP00000338512,AGTPBP1,1278,"Cytosolic carboxypeptidase 1; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5." 9606.ENSP00000338532,FAM53B,422,Protein FAM53B; Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization. 9606.ENSP00000338533,TTC33,262,Tetratricopeptide repeat domain 33. 9606.ENSP00000338562,STX3,289,Syntaxin-3; Potentially involved in docking of synaptic vesicles at presynaptic active zones. 9606.ENSP00000338572,ZNF212,495,Zinc finger protein 212; May be involved in transcriptional regulation. 9606.ENSP00000338607,THEM6,208,Protein THEM6; Thioesterase superfamily member 6. 9606.ENSP00000338613,CRYGN,182,Crystallin gamma N. 9606.ENSP00000338624,TASP1,420,"Threonine aspartase subunit alpha; Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early HOXA gene cluster. Belongs to the Ntn-hydrolase family." 9606.ENSP00000338627,SLC6A16,736,Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5; Solute carrier family 6 member 16. 9606.ENSP00000338629,RERE,1566,"Arginine-glutamic acid dipeptide repeats protein; Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death." 9606.ENSP00000338641,PWWP3B,696,PWWP domain-containing DNA repair factor 3B; PWWP domain containing 3B; Belongs to the PWWP3A family. 9606.ENSP00000338648,MS4A4A,239,Membrane-spanning 4-domains subfamily A member 4A; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000338671,RHOBTB1,696,Rho-related BTB domain-containing protein 1; Rho related BTB domain containing 1. 9606.ENSP00000338673,CDK10,360,Cyclin-dependent kinase 10; Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells). Involved in the regulation of actin cytoskeleton organization through the phosphorylation of actin dynamics regulators such as PKN2. Is a negative regulator of ciliogenesis through phosphorylation of PKN2 and promotion of RhoA signaling ; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. 9606.ENSP00000338703,UGP2,508,UTP--glucose-1-phosphate uridylyltransferase; Plays a central role as a glucosyl donor in cellular metabolic pathways; Belongs to the UDPGP type 1 family. 9606.ENSP00000338727,LRRFIP2,721,"Leucine-rich repeat flightless-interacting protein 2; May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding; Belongs to the LRRFIP family." 9606.ENSP00000338728,CCDC88A,1870,"Girdin; Bifunctional modulator of guanine nucleotide-binding proteins (G proteins). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha subunits. Also acts as a guanine nucleotide dissociation inhibitor for guanine nucleotide- binding protein G(s) subunit alpha GNAS. Essential for cell migration. Interacts in complex with G(i) alpha subunits with the EGFR receptor, retaining EGFR at the cell membrane following ligand stimulation and promoting EGFR signaling which triggers cell migration. Binding to Gi-alph [...] " 9606.ENSP00000338766,NPHP3,1330,Nephrocystin-3; Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. 9606.ENSP00000338769,ASAP3,903,"Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3; Promotes cell proliferation." 9606.ENSP00000338770,ZNF420,688,Zinc finger protein 420; May be involved in transcriptional regulation. 9606.ENSP00000338777,AP3S2,193,"AP-3 complex subunit sigma-2; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals." 9606.ENSP00000338783,CHST5,411,"Carbohydrate sulfotransferase 5; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues and O- linked sugars of mucin-type acceptors. Acts on the non-reducing terminal GlcNAc of short carbohydrate substrates. However, it does not transfer sulfate to longer carbohydrate substrates that have poly-N- acetyllactosamine structures. Has no activity toward keratan. Not involved in generating HEV-expressed ligands for SELL. Its substrate specificity may be in [...] " 9606.ENSP00000338785,STARD13,1113,"StAR-related lipid transfer protein 13; GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells." 9606.ENSP00000338788,ZC3H15,426,Zinc finger CCCH domain-containing protein 15; Protects DRG1 from proteolytic degradation. Stimulates DRG1 GTPase activity likely by increasing the affinity for the potassium ions. 9606.ENSP00000338796,SSX2,223,SSX family member 2. 9606.ENSP00000338806,NFAT5,1549,"Nuclear factor of activated T-cells 5; Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes. Mediates the transcriptional response to hypertonicity. Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17. Binds the DNA consensus sequence 5'-[ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3'." 9606.ENSP00000338807,ZBTB49,765,Zinc finger and BTB domain-containing protein 49; Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription. [Isoform 3]: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000338812,C1QTNF6,278,Complement C1q tumor necrosis factor-related protein 6; C1q and TNF related 6. 9606.ENSP00000338814,BAG5,488,"BAG family molecular chaperone regulator 5; Inhibits both auto-ubiquitination of PRKN and ubiquitination of target proteins by PRKN (By similarity). May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding." 9606.ENSP00000338844,SEC23B,767,"Protein transport protein Sec23B; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex." 9606.ENSP00000338860,ZNF444,327,Zinc finger protein 444; Transcriptional regulator. Binds to the 5'-flanking critical region of the SCARF1 promoter; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000338862,BRIX1,353,Ribosome biogenesis protein BRX1 homolog; Required for biogenesis of the 60S ribosomal subunit. 9606.ENSP00000338864,RASGRP2,609,"RAS guanyl-releasing protein 2; Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway." 9606.ENSP00000338885,C2CD2L,707,"Phospholipid transfer protein C2CD2L; Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane. It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling. Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers. In response to elevati [...] " 9606.ENSP00000338887,LRRC8D,858,"Volume-regulated anion channel subunit LRRC8D; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel [...] " 9606.ENSP00000338927,ZNF385A,386,"Zinc finger protein 385A; RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3'-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3'- UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p [...] " 9606.ENSP00000338934,EZR,586,"Ezrin; Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis." 9606.ENSP00000338964,GGT7,662,Glutathione hydrolase 7 heavy chain; Cleaves glutathione conjugates; Belongs to the gamma-glutamyltransferase family. 9606.ENSP00000338967,ARHGAP6,974,Rho GTPase-activating protein 6; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology. 9606.ENSP00000338988,PRELID3A,172,"PRELI domain containing protein 3A; In vitro, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space. Phosphatidic acid import is required for cardiolipin (CL) synthesis in the mitochondrial inner membrane; Belongs to the slowmo family." 9606.ENSP00000338990,ATG101,218,"Autophagy-related protein 101; Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation. Belongs to the ATG101 family." 9606.ENSP00000339001,TUBB,444,"Tubulin beta chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000339004,FOXG1,489,Forkhead box protein G1; Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon. 9606.ENSP00000339017,ATAD1,361,"ATPase family AAA domain-containing protein 1; ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity)." 9606.ENSP00000339030,ZFP91,570,"E3 ubiquitin-protein ligase ZFP91; Atypical E3 ubiquitin-protein ligase that mediates 'Lys-63'- linked ubiquitination of MAP3K14/NIK, leading to stabilize and activate MAP3K14/NIK. It thereby acts as an activator of the non-canonical NF- kappa-B2/NFKB2 pathway. May also play an important role in cell proliferation and/or anti-apoptosis; Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000339063,EEF1A1,462,"Elongation factor 1-alpha 1; This protein promotes the GTP-dependent binding of aminoacyl- tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily." 9606.ENSP00000339067,FGFBP3,258,"Fibroblast growth factor-binding protein 3; Heparin-binding protein which binds to FGF2, prevents binding of FGF2 to heparin and probably inhibits immobilization of FGF2 on extracellular matrix glycosaminoglycans, allowing its release and subsequent activation of FGFR signaling which leads to increased vascular permeability." 9606.ENSP00000339090,RBMX2,322,"RNA-binding motif protein, X-linked 2; Involved in pre-mRNA splicing as component of the activated spliceosome; Belongs to the IST3 family." 9606.ENSP00000339109,ANAPC1,1944,"Anaphase-promoting complex subunit 1; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC1 family." 9606.ENSP00000339115,ESPNL,1005,Espin-like protein; Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing. 9606.ENSP00000339136,ERAS,233,GTPase ERas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the tumor-like growth properties of embryonic stem cells (By similarity); Belongs to the small GTPase superfamily. Ras family. 9606.ENSP00000339145,RRP1B,758,Ribosomal RNA processing protein 1 homolog B; Positively regulates DNA damage-induced apoptosis by acting as a transcriptional coactivator of proapoptotic target genes of the transcriptional activator E2F1. Likely to play a role in ribosome biogenesis by targeting serine/threonine protein phosphatase PP1 to the nucleolus. Involved in regulation of mRNA splicing (By similarity). Inhibits SIPA1 GTPase activity (By similarity). Involved in regulating expression of extracellular matrix genes (By similarity). Associates with chromatin and may play a role in modulating chromatin structure. 9606.ENSP00000339157,CPM,443,"Carboxypeptidase M; Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins; Belongs to the peptidase M14 family." 9606.ENSP00000339161,AIDA,306,"Axin interactor, dorsalization-associated protein; Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin- independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity)." 9606.ENSP00000339179,TSSK4,338,Testis-specific serine/threonine-protein kinase 4; Serine/threonine kinase which is involved in male germ cell development and in mature sperm function (By similarity). May be involved in the Cre/Creb signaling pathway (By similarity). Phosphorylates CREB1 on 'Ser-133' in vitro and can stimulate Cre/Creb pathway in cells. Phosphorylates CREM on 'Ser-116' in vitro (By similarity). Phosphorylates ODF2 on 'Ser-95' (By similarity). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. 9606.ENSP00000339182,ATP13A4,1196,ATPase 13A4. 9606.ENSP00000339186,GRAP2,330,GRB2-related adapter protein 2; Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc. 9606.ENSP00000339191,CAV1,178,Caveolin-1; May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recrui [...] 9606.ENSP00000339208,DPP8,898,Dipeptidyl peptidase 8; Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2. 9606.ENSP00000339238,KRTAP24-1,254,"Keratin-associated protein 24-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family." 9606.ENSP00000339250,DPPA3,159,"Developmental pluripotency-associated protein 3; Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) o [...] " 9606.ENSP00000339251,KRTDAP,99,Keratinocyte differentiation-associated protein; May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic skin morphogenesis. 9606.ENSP00000339260,SLC6A13,602,"Sodium- and chloride-dependent GABA transporter 2; Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport." 9606.ENSP00000339280,CCDC30,783,Coiled-coil domain containing 30; Belongs to the prefoldin subunit beta family. 9606.ENSP00000339299,TRIO,3097,"Triple functional domain protein; Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases. Involved in coordinating actin remodeling, which is necessary for cell migration and growth. In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA- selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity)." 9606.ENSP00000339314,ZNF70,446,Zinc finger protein 70; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000339324,SMIM15,74,Small integral membrane protein 15. 9606.ENSP00000339328,PLAUR,335,Urokinase plasminogen activator surface receptor; Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form. 9606.ENSP00000339340,KCTD21,260,"BTB/POZ domain-containing protein KCTD21; Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB)." 9606.ENSP00000339356,KLRG2,409,Killer cell lectin like receptor G2. 9606.ENSP00000339374,LGALS12,337,Galectin-12; Binds lactose. May participate in the apoptosis of adipocytes. 9606.ENSP00000339381,RGS12,1447,"Regulator of G-protein signaling 12; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP- bound form." 9606.ENSP00000339389,OTUD6A,288,"OTU domain-containing protein 6A; Deubiquitinating enzyme that hydrolyzes 'Lys-27'-, 'Lys- 29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains." 9606.ENSP00000339390,CDH26,832,"Cadherin-like protein 26; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Ligand for integrins alpha-E/beta-7, ITGAE:ITGAB7, alpha-4/beta-7, ITGA4:ITGAB7 and alpha-4/beta-1, ITGA4:ITGAB1 through which modulates CD4(+) T cells activation." 9606.ENSP00000339398,HLA-DQA1,255,"Major histocompatibility complex, class II, DQ alpha 1; Belongs to the MHC class II family." 9606.ENSP00000339404,ASCC1,400,"Activating signal cointegrator 1 complex subunit 1; Plays a role in DNA damage repair as component of the ASCC complex. Part of the ASC-1 complex that enhances NF- kappa-B, SRF and AP1 transactivation. In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction." 9606.ENSP00000339405,TP53TG3B,124,TP53-target gene 3 protein; May play a significant role in p53/TP53-mediating signaling pathway. 9606.ENSP00000339435,SRR,340,Serine racemase; Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine. 9606.ENSP00000339449,CFAP52,620,Cilia- and flagella-associated protein 52; May play a role in cell growth and/or survival. Belongs to the CFAP52 family. 9606.ENSP00000339467,RHOG,191,"Rho-related GTP-binding protein RhoG; Required for the formation of membrane ruffles during macropinocytosis. Plays a role in cell migration and is required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB and ARHGEF26/SGEF, which induces cytoskeleton rearrangements and promotes bacterial entry. Belongs to the small GTPase superfamily. Rho family." 9606.ENSP00000339477,ICOSLG,309,Ig-like domain-containing protein; Inducible T cell costimulator ligand. 9606.ENSP00000339479,NT5C2,561,Cytosolic purine 5'-nucleotidase; May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides. 9606.ENSP00000339484,ZFAND4,727,Zinc finger AN1-type containing 4. 9606.ENSP00000339495,NELFB,628,"Negative elongation factor B; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. May be able to induce chromatin unfolding. Essential for early embryogenesis; plays an important role in maintaining the undifferentiated state of embryonic stem cells (ESCs) by preventing unscheduled expression of developmental genes (By similarity). Plays a key role in establi [...] " 9606.ENSP00000339511,H2AP,117,Huntingtin-interacting protein M; H2A.P histone. 9606.ENSP00000339524,DFFB,362,DNA fragmentation factor subunit beta; Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology. 9606.ENSP00000339527,FOXO3,673,"Forkhead box protein O3; Transcriptional activator that recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy. Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins (By similarity). Triggers apoptosis in the absence of survival factors, including neuronal cell death upon [...] " 9606.ENSP00000339532,THUMPD3,507,THUMP domain containing 3. 9606.ENSP00000339566,H1-2,213,"Histone H1.2; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity)." 9606.ENSP00000339577,RHD,493,Rh blood group D antigen; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. 9606.ENSP00000339585,ZNF449,518,Zinc finger protein 449; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000339587,GSDME,496,"Gasdermin-E, C-terminal; Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53." 9606.ENSP00000339613,POFUT2,429,"GDP-fucose protein O-fucosyltransferase 2; Catalyzes the reaction that attaches fucose through an O- glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and [...] " 9606.ENSP00000339621,LCN6,163,Epididymal-specific lipocalin-6; May play a role in male fertility. 9606.ENSP00000339626,SLC35E4,350,Solute carrier family 35 member E4; Putative transporter. 9606.ENSP00000339634,KIR2DL4,342,"Killer cell immunoglobulin-like receptor 2DL4; Receptor for non-classical major histocompatibility class Ib HLA-G molecules. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M). In decidual NK cells, binds peptide-bound HLA-G-B2M complex and triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy. May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD [...] " 9606.ENSP00000339637,BRAT1,821,"BRCA1-associated ATM activator 1; Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress. Plays a role in regulating mitochondrial function and cell proliferation. Required for protein stability of MTOR and MTOR- related proteins, and cell cycle progress by growth factors." 9606.ENSP00000339659,TRIM2,771,Tripartite motif-containing protein 2; UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance; Belongs to the TRIM/RBCC family. 9606.ENSP00000339692,RASSF4,321,Ras association domain-containing protein 4; Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest. 9606.ENSP00000339720,NDUFA4,81,"Cytochrome c oxidase subunit NDUFA4; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport [...] " 9606.ENSP00000339723,CIR1,450,Corepressor interacting with RBPJ 1; May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repression of transcription. 9606.ENSP00000339726,OR14I1,311,Olfactory receptor 14I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000339730,THBS4,961,"Thrombospondin-4; Adhesive glycoprotein that mediates cell-to-cell and cell-to- matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via it [...] " 9606.ENSP00000339754,ARL4C,201,"ADP-ribosylation factor-like protein 4C; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in th [...] " 9606.ENSP00000339764,PRDM8,689,"PR domain zinc finger protein 8; Probable histone methyltransferase, preferentially acting on 'Lys-9' of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity); Belongs to the class V-like SAM-binding methyltrans [...] " 9606.ENSP00000339767,ZNF433,673,Zinc finger protein 433; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000339787,ACSL4,711,"Long-chain-fatty-acid--CoA ligase 4; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially activates arachidonate and eicosapentaenoate as substrates. Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose- stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion. Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000339795,RPL7,248,60S ribosomal protein L7; Component of the large ribosomal subunit. Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs. 9606.ENSP00000339801,IDS,550,Iduronate 2-sulfatase 14 kDa chain; Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate. 9606.ENSP00000339802,ANKRD34B,514,Ankyrin repeat domain 34B; Belongs to the ANKRD34 family. 9606.ENSP00000339804,TSLP,159,"Thymic stromal lymphopoietin; [Isoform 1]: Cytokine that induces the release of T-cell- attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells." 9606.ENSP00000339813,TPST2,377,"Protein-tyrosine sulfotransferase 2; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate." 9606.ENSP00000339823,ZNF546,836,Zinc finger protein 546; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000339824,FGFR3,808,"Fibroblast growth factor receptor 3; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Ph [...] " 9606.ENSP00000339826,PIK3AP1,805,"Phosphoinositide 3-kinase adapter protein 1; Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3- kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll- like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival o [...] " 9606.ENSP00000339830,TMEM220,160,Transmembrane protein 220. 9606.ENSP00000339834,SNRNP48,339,U11/U12 small nuclear ribonucleoprotein 48 kDa protein; Likely involved in U12-type 5' splice site recognition. 9606.ENSP00000339835,H3-5,135,"Histone H3.3C; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Hominid-specific H3.5/H3F3C preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes." 9606.ENSP00000339844,MRPL43,235,Mitochondrial ribosomal protein L43. 9606.ENSP00000339850,DPYSL4,572,"Dihydropyrimidinase-related protein 4; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity); Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family." 9606.ENSP00000339867,CLCN1,988,Chloride channel protein 1; Voltage-gated chloride channel. Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. Belongs to the chloride channel (TC 2.A.49) family. ClC- 1/CLCN1 subfamily. 9606.ENSP00000339881,MIOS,875,"GATOR complex protein MIOS; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1." 9606.ENSP00000339883,LBR,615,"Delta(14)-sterol reductase LBR; Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane." 9606.ENSP00000339912,FLRT3,649,"Leucine-rich repeat transmembrane protein FLRT3; Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Media [...] " 9606.ENSP00000339916,LIMK2,686,LIM domain kinase 2; Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways. Involved in astral microtubule organization and mitotic spindle orientation during early stage of mitosis by mediating phosphorylation of TPPP. Displays serine/threonine-specific phosphorylation of myelin basic protein and histone (MBP) in vitro. 9606.ENSP00000339917,TAF9B,251,"Transcription initiation factor TFIID subunit 9B; Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription." 9606.ENSP00000339918,XRRA1,792,X-ray radiation resistance-associated protein 1; May be involved in the response of cells to X-ray radiation. 9606.ENSP00000339933,PKLR,574,Pyruvate kinase PKLR; Plays a key role in glycolysis. 9606.ENSP00000339971,MROH8,1069,Protein MROH8; Maestro heat like repeat family member 8. 9606.ENSP00000339973,TBC1D28,210,TBC1 domain family member 28. 9606.ENSP00000339976,TAF1A,450,"TATA box-binding protein-associated factor RNA polymerase I subunit A; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits." 9606.ENSP00000339992,MYB,761,Transcriptional activator Myb; Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells. 9606.ENSP00000340004,ZNF564,553,Zinc finger protein 564; May be involved in transcriptional regulation. 9606.ENSP00000340019,HSPD1,573,"60 kDa heat shock protein, mitochondrial; Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back- to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ri [...] " 9606.ENSP00000340083,KRCC1,259,Lysine rich coiled-coil 1. 9606.ENSP00000340088,THEG,379,Testicular haploid expressed gene protein; May be involved (but not essential) in spermatogenesis. 9606.ENSP00000340125,PPP1R17,155,Protein phosphatase 1 regulatory subunit 17; Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes. 9606.ENSP00000340132,ZNF383,475,"Zinc finger protein 383; May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways." 9606.ENSP00000340176,RBPMS,219,"RNA-binding protein with multiple splicing; Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C-terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins. Binds to poly(A) RNA." 9606.ENSP00000340200,GLYAT,296,"Glycine N-acyltransferase; Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N- acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid." 9606.ENSP00000340211,CORO1B,489,Coronin-1B; Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity). 9606.ENSP00000340212,TMEM202,273,Transmembrane protein 202. 9606.ENSP00000340220,C7orf26,449,Uncharacterized protein C7orf26; Chromosome 7 open reading frame 26. 9606.ENSP00000340226,LMX1A,382,"LIM homeobox transcription factor 1-alpha; Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity)." 9606.ENSP00000340243,SERINC3,473,"Serine incorporator 3; Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm. Belongs to the TDE1 family." 9606.ENSP00000340271,TAF3,929,Transcription initiation factor TFIID subunit 3; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Required in complex with TBPL2 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process. 9606.ENSP00000340278,PARK7,189,"Protein/nucleic acid deglycase DJ-1; Protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals. Thus, functions as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminoca [...] " 9606.ENSP00000340279,SSX2IP,614,"Afadin- and alpha-actinin-binding protein; Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin- catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha- actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via [...] " 9606.ENSP00000340292,DLK1,383,Protein delta homolog 1; May have a role in neuroendocrine differentiation. 9606.ENSP00000340296,ACSM6,480,"Acyl-coenzyme A synthetase ACSM6, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000340299,ZDHHC1,485,Probable palmitoyltransferase ZDHHC1; Zinc finger DHHC-type containing 1; Belongs to the DHHC palmitoyltransferase family. 9606.ENSP00000340305,UBE2V1,170,Ubiquitin conjugating enzyme E2 V1. 9606.ENSP00000340328,NYX,481,Nyctalopin. 9606.ENSP00000340329,CAPRIN1,709,"Caprin-1; May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. Binds directly and selectively to MYC and CCND2 RNAs. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs." 9606.ENSP00000340330,KAT5,546,"Histone acetyltransferase KAT5; Catalytic subunit of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replica [...] " 9606.ENSP00000340347,TCF7,384,"Transcription factor 7; Transcriptional activator involved in T-cell lymphocyte differentiation. Necessary for the survival of CD4(+) CD8(+) immature thymocytes. Isoforms lacking the N-terminal CTNNB1 binding domain cannot fulfill this role. Binds to the T-lymphocyte-specific enhancer element (5'-WWCAAAG-3') found in the promoter of the CD3E gene. May also act as feedback transcriptional repressor of CTNNB1 and TCF7L2 target genes. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7 and CTNNB1." 9606.ENSP00000340361,ACVR2B,512,"Activin receptor type-2B; Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to [...] " 9606.ENSP00000340373,DYRK1A,763,Dual specificity tyrosine-phosphorylation-regulated kinase 1A; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in tu [...] 9606.ENSP00000340402,SLC15A5,579,Solute carrier family 15 member 5; Proton oligopeptide cotransporter. 9606.ENSP00000340409,SMPD1,631,"Sphingomyelin phosphodiesterase; Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity; Belongs to the acid sphingomyelinase family." 9606.ENSP00000340427,ERMP1,904,"Endoplasmic reticulum metallopeptidase 1; Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures. Belongs to the peptidase M28 family." 9606.ENSP00000340434,RTL6,239,Retrotransposon Gag like 6. 9606.ENSP00000340445,SAXO2,398,Stabilizer of axonemal microtubules 2. 9606.ENSP00000340454,RAP1GDS1,608,"Rap1 GTPase-GDP dissociation stimulator 1; Stimulates GDP/GTP exchange reaction of a group of small GTP- binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein." 9606.ENSP00000340466,GANAB,966,"Neutral alpha-glucosidase AB; Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia ; Belongs to the glycosyl hydrolase 31 family." 9606.ENSP00000340467,CARMIL3,1372,Capping protein regulator and myosin 1 linker 3; Belongs to the CARMIL family. 9606.ENSP00000340474,EXD3,876,Exonuclease mut-7 homolog; Possesses 3'-5' exoribonuclease activity. Required for 3'-end trimming of AGO1-bound miRNAs (By similarity); Belongs to the mut-7 family. 9606.ENSP00000340494,ZNF395,513,Zinc finger protein 395; Plays a role in papillomavirus genes transcription. 9606.ENSP00000340505,SENP8,212,Sentrin-specific protease 8; Protease that catalyzes two essential functions in the NEDD8 pathway: processing of full-length NEDD8 to its mature form and deconjugation of NEDD8 from targeted proteins such as cullins or p53. 9606.ENSP00000340507,TRIM24,1050,"Transcription intermediary factor 1-alpha; Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity. Promotes ubiquitination and proteasomal degradation of p53/TP53. Plays a role in the regulation of cell proliferation and apoptosis, at least in part via its effects on p53/TP5 [...] " 9606.ENSP00000340510,PPL,1756,Periplakin; Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling. Belongs to the plakin or cytolinker family. 9606.ENSP00000340514,ZNF14,642,Zinc finger protein 14; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000340519,LRRC37B,947,Leucine-rich repeat-containing protein 37B; Leucine rich repeat containing 37B. 9606.ENSP00000340526,UTS2B,119,Urotensin-2B; Potent vasoconstrictor; Belongs to the urotensin-2 family. 9606.ENSP00000340546,KRTAP4-5,181,"Keratin-associated protein 4-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000340568,COX8C,72,"Cytochrome c oxidase subunit 8C, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...] " 9606.ENSP00000340578,RASSF6,369,"Ras association domain-containing protein 6; Involved in the induction of apoptosis, through both caspase- dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B (By similarity)." 9606.ENSP00000340590,RTL4,310,"Retrotransposon Gag-like protein 4; Involved in cognitive function in the brain, possibly via the noradrenergic system." 9606.ENSP00000340594,SYDE2,1194,Rho GTPase-activating protein SYDE2; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000340596,UBE3B,1068,Ubiquitin-protein ligase E3B; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. 9606.ENSP00000340608,SGK2,427,"Serine/threonine-protein kinase Sgk2; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up-regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase." 9606.ENSP00000340609,DUPD1,220,"Dual specificity phosphatase DUPD1; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate. Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000340610,POTEH,545,POTE ankyrin domain family member H. 9606.ENSP00000340644,TERB2,220,"Telomere repeats-binding bouquet formation protein 2; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1- TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures an [...] " 9606.ENSP00000340648,HUWE1,4374,"E3 ubiquitin-protein ligase HUWE1; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and pro [...] " 9606.ENSP00000340660,ELSPBP1,223,Epididymal sperm-binding protein 1; Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity); Belongs to the seminal plasma protein family. 9606.ENSP00000340668,TMEM248,314,Transmembrane protein 248. 9606.ENSP00000340672,ARMCX3,379,"Armadillo repeat-containing X-linked protein 3; Regulates mitochondrial aggregation and transport in axons in living neurons. May link mitochondria to the TRAK2-kinesin motor complex via its interaction with Miro and TRAK2. Mitochondrial distribution and dynamics is regulated through ARMCX3 protein degradation, which is promoted by PCK and negatively regulated by WNT1. Enhances the SOX10-mediated transactivation of the neuronal acetylcholine receptor subunit alpha-3 and beta-4 subunit gene promoters; Belongs to the eutherian X-chromosome-specific Armcx family." 9606.ENSP00000340677,WNT8B,351,"Protein Wnt-8b; Ligand for members of the frizzled family of seven transmembrane receptors. May play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus." 9606.ENSP00000340683,ZNF823,610,Zinc finger protein 823; May be involved in transcriptional regulation. 9606.ENSP00000340684,MAOA,527,"Amine oxidase [flavin-containing] A; Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine." 9606.ENSP00000340688,ADGRL1,1474,"Adhesion G protein-coupled receptor L1; Calcium-independent receptor of high affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity)." 9606.ENSP00000340691,EIF4EBP1,118,"Eukaryotic translation initiation factor 4E-binding protein 1; Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways." 9606.ENSP00000340736,GYG1,350,"Glycogenin-1; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily." 9606.ENSP00000340748,OR13H1,308,Olfactory receptor 13H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000340776,CFAP65,1925,Cilia- and flagella-associated protein 65; May play a role in sperm motility. Belongs to the CFAP65 family. 9606.ENSP00000340796,ZNF326,582,"DBIRD complex subunit ZNF326; Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. May play a role in neuronal differentiation and is able to bind DNA and activate expression in vitro." 9606.ENSP00000340811,GJB5,273,"Gap junction beta-5 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000340820,MAPT,776,"Microtubule-associated protein tau; Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its st [...] " 9606.ENSP00000340823,GTF2F2,249,General transcription factor IIF subunit 2; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA-helicase activity. 9606.ENSP00000340836,OSTF1,214,"Osteoclast-stimulating factor 1; Induces bone resorption, acting probably through a signaling cascade which results in the secretion of factor(s) enhancing osteoclast formation and activity." 9606.ENSP00000340839,ZC3H12B,836,Probable ribonuclease ZC3H12B; May function as RNase and regulate the levels of target RNA species. 9606.ENSP00000340841,ZNF621,439,Zinc finger protein 621; May be involved in transcriptional regulation. 9606.ENSP00000340864,C1QTNF1,281,Complement C1q tumor necrosis factor-related protein 1; C1q and TNF related 1. 9606.ENSP00000340874,MEF2C,483,"Myocyte-specific enhancer factor 2C; Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex [...] " 9606.ENSP00000340883,SMARCB1,394,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; Core component of the BAF (hSWI/SNF) complex. This ATP- dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric struct [...] " 9606.ENSP00000340887,C5orf47,176,Uncharacterized protein C5orf47; Chromosome 5 open reading frame 47. 9606.ENSP00000340896,ASH2L,628,"Set1/Ash2 histone methyltransferase complex subunit ASH2; Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis. In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B." 9606.ENSP00000340900,MIA3,1907,Transport and Golgi organization protein 1 homolog; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein s [...] 9606.ENSP00000340913,TRPC6,931,"Short transient receptor potential channel 6; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion; Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily." 9606.ENSP00000340914,SYT3,590,Synaptotagmin-3; Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain. Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). Plays a role in dendrite formation by melanocytes. 9606.ENSP00000340935,DMP1,513,"Dentin matrix acidic phosphoprotein 1; May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast- specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite." 9606.ENSP00000340939,CLDN18,261,"Claudin-18; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000340943,CRHR2,438,"Corticotropin-releasing factor receptor 2; G-protein coupled receptor for CRH (corticotropin-releasing factor), UCN (urocortin), UCN2 and UCN3. Has high affinity for UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels." 9606.ENSP00000340954,CNBD2,572,Cyclic nucleotide-binding domain-containing protein 2; Essential for male fertility. Plays an important role in spermatogenesis and regulates sperm motility by controlling the development of the flagellar bending of sperm. 9606.ENSP00000340975,SOWAHD,315,Ankyrin repeat domain-containing protein SOWAHD; Sosondowah ankyrin repeat domain family member D; Belongs to the SOWAH family. 9606.ENSP00000340979,RNF175,328,Ring finger protein 175. 9606.ENSP00000340982,SPAG8,501,"Sperm-associated antigen 8; Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5- regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis. May play a role in fertility and microtubule formation through interaction with RANBP9." 9606.ENSP00000340983,LRRC25,305,Leucine-rich repeat-containing protein 25; Plays a role in the inhibition of RLR-mediated type I interferon signaling pathway by targeting DDX58/RIG-I for autophagic degradation. Interacts specifically with ISG15-associated DDX58 to promote interaction between DDX58 and the autophagic cargo receptor p62/SQSTM1 to mediate DDX58 degradation via selective autophagy. Plays also a role in the inhibition of NF-kappa-B signaling pathway and inflammatory response by promoting the degradation of p65/RELA. 9606.ENSP00000340988,LDLRAD2,272,Low density lipoprotein receptor class A domain containing 2. 9606.ENSP00000340989,SFN,248,"14-3-3 protein sigma; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53; Belongs to the 14-3-3 family." 9606.ENSP00000340998,NTN4,628,"Netrin-4; May play an important role in neural, kidney and vascular development. Promotes neurite elongation from olfactory bulb explants." 9606.ENSP00000341013,AMTN,209,"Amelotin; Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis." 9606.ENSP00000341021,NANOS2,138,"Nanos homolog 2; Plays a key role in the sexual differentiation of germ cells by promoting the male fate but suppressing the female fate. Represses the female fate pathways by suppressing meiosis, which in turn results in the promotion of the male fate. Maintains the suppression of meiosis by preventing STRA8 expression, which is required for premeiotic DNA replication, after CYP26B1 is decreased. Regulates the localization of the CCR4-NOT deadenylation complex to P-bodies and plays a role in recruiting the complex to trigger the degradation of mRNAs involved in meiosis. Required for t [...] " 9606.ENSP00000341030,CSN2,226,Beta-casein; Important role in determination of the surface properties of the casein micelles; Belongs to the beta-casein family. 9606.ENSP00000341031,TPRG1,275,Tumor protein p63 regulated 1; Belongs to the TPRG1 family. 9606.ENSP00000341032,WNT7B,349,Protein Wnt-7b; Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta- catenin signaling pathway. Required for normal fusion of the chorion and the allantois during placenta development (By similarity). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation. 9606.ENSP00000341044,ACACB,2458,"Acetyl-CoA carboxylase 2; Mitochondrial enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism. Catalyzes a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA. Through the production of malonyl-CoA that allosterically inhibits carnitine palmitoyltransferase 1 at the mitochondria, negatively regulates fatty acid oxidation (By similarity). Together with its cytoso [...] " 9606.ENSP00000341045,UGT2B15,530,"UDP-glucuronosyltransferase 2B15; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7- hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens; Belongs to the UDP-glycosyltransferase family." 9606.ENSP00000341051,CLEC18B,455,C-type lectin domain family 18 member B; Binds polysaccharides in a Ca(2+)-independent manner (By similarity). 9606.ENSP00000341071,ARHGEF3,558,Rho guanine nucleotide exchange factor 3; Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases. 9606.ENSP00000341082,MRPL20,149,Mitochondrial ribosomal protein L20. 9606.ENSP00000341083,NPR2,1047,Atrial natriuretic peptide receptor 2; Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth. 9606.ENSP00000341094,H2AC7,130,"Histone H2A type 1-D; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000341108,HMX2,273,Homeobox protein HMX2; Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development; Belongs to the HMX homeobox family. 9606.ENSP00000341117,SDSL,329,Serine dehydratase-like; Has low serine dehydratase and threonine dehydratase activity. 9606.ENSP00000341139,C3orf62,267,Uncharacterized protein C3orf62; Chromosome 3 open reading frame 62. 9606.ENSP00000341141,SIGLEC1,1709,"Sialoadhesin; Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis." 9606.ENSP00000341159,CERKL,558,Ceramide kinase-like protein; Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. 9606.ENSP00000341165,ZNF772,489,Zinc finger protein 772; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000341170,PTN,168,"Pleiotrophin; Secreted growth factor that mediates its signal through cell- surface proteoglycan and non-proteoglycan receptors. Binds cell-surface proteoglycan receptor via their chondroitin sulfate (CS) groups. Thereby regulates many processes like cell proliferation, cell survival, cell growth, cell differentiation and cell migration in several tissues namely neuron and bone. Also plays a role in synaptic plasticity and learning-related behavior by inhibiting long-term synaptic potentiation (By similarity). Binds PTPRZ1, leading to neutralization of the negative charges of the CS ch [...] " 9606.ENSP00000341171,MTSS2,747,"Protein MTSS 2; Involved in plasma membrane dynamics. Potentiated PDGF- mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation. May function in actin bundling ; Belongs to the MTSS family." 9606.ENSP00000341178,C15orf62,175,"Uncharacterized protein C15orf62, mitochondrial; Chromosome 15 open reading frame 62." 9606.ENSP00000341189,PTK2,1065,"Focal adhesion kinase 1; Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart development. Regulates axon growth and neuronal cell migration, axon branching and synapse formation; required f [...] " 9606.ENSP00000341198,NEO1,1461,"Neogenin; Multi-functional cell surface receptor regulating cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion, the interaction between NEO1/Neogenin and RGMa and RGMb induces a chemorepulsive response. Belongs to the immunoglobulin superfamily. DCC family." 9606.ENSP00000341206,CHST4,386,"Carbohydrate sulfotransferase 4; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within mucin-associated glycans that ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X on receptors SPN/CD43, GLYCAM1 and MADCAM1. Also involved in biosynthesis of SELL ligand recogni [...] " 9606.ENSP00000341208,STAT5A,794,"Signal transducer and activator of transcription 5A; Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL- induced transcription. Regulates the expression of milk proteins during lactation." 9606.ENSP00000341213,RAB5IF,143,RAB5 interacting factor. 9606.ENSP00000341214,H1-6,207,"Histone H1t; Testis-specific histone H1 that forms less compacted chromatin compared to other H1 histone subtypes. Formation of more relaxed chromatin may be required to promote chromatin architecture required for proper chromosome regulation during meiosis, such as homologous recombination. Histones H1 act as linkers that bind to nucleosomes and compact polynucleosomes into a higher-order chromatin configuration (Probable)." 9606.ENSP00000341236,ZNF695,515,Zinc finger protein 695; May be involved in transcriptional regulation. 9606.ENSP00000341243,RBPJL,517,"Recombining binding protein suppressor of hairless-like protein; Putative transcription factor, which cooperates with EBNA2 to activate transcription; Belongs to the Su(H) family." 9606.ENSP00000341247,GSPT2,628,"Eukaryotic peptide chain release factor GTP-binding subunit ERF3B; Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons." 9606.ENSP00000341268,TRADD,312,"Tumor necrosis factor receptor type 1-associated DEATH domain protein; The nuclear form acts as a tumor suppressor by preventing ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A by TRIP12: acts by interacting with TRIP12, leading to disrupt interaction between TRIP12 and isoform p19ARF/ARF of CDKN2A (By similarity). Adapter molecule for TNFRSF1A/TNFR1 that specifically associates with the cytoplasmic domain of activated TNFRSF1A/TNFR1 mediating its interaction with FADD. Overexpression of TRADD leads to two major TNF- induced responses, apoptosis and activation of NF-kappa-B." 9606.ENSP00000341280,JARID2,1246,"Protein Jumonji; Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, i [...] " 9606.ENSP00000341289,TUBB4B,445,"Tubulin beta-4B chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Belongs to the tubulin family." 9606.ENSP00000341292,WNK1,2634,"Serine/threonine-protein kinase WNK1; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thia [...] " 9606.ENSP00000341324,SRFBP1,429,Serum response factor-binding protein 1; May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity). 9606.ENSP00000341342,KLHL6,621,Kelch-like protein 6; Involved in B-lymphocyte antigen receptor signaling and germinal center formation. 9606.ENSP00000341346,TEKT1,418,Tektin-1; Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules; Belongs to the tektin family. 9606.ENSP00000341351,DCAF5,942,DDB1- and CUL4-associated factor 5; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000341361,RNF13,381,E3 ubiquitin-protein ligase RNF13; E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation. Involved in apoptosis regulation. Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA. 9606.ENSP00000341364,TMEM230,183,Transmembrane protein 230; Involved in trafficking and recycling of synaptic vesicles. Belongs to the TMEM134/TMEM230 family. 9606.ENSP00000341368,C6orf132,1188,Uncharacterized protein C6orf132; Chromosome 6 open reading frame 132. 9606.ENSP00000341382,SMC4,1288,"Structural maintenance of chromosomes protein 4; Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases." 9606.ENSP00000341412,PLET1,207,Placenta-expressed transcript 1 protein; Modulates leading keratinocyte migration and cellular adhesion to matrix proteins during a wound-healing response and promotes wound repair. May play a role during trichilemmal differentiation of the hair follicle (By similarity). 9606.ENSP00000341422,P4HTM,563,"Transmembrane prolyl 4-hydroxylase; Catalyzes the post-translational formation of 4- hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex." 9606.ENSP00000341442,SNTN,147,Sentan; May be a component of the linker structure that bridges the ciliary membrane and peripheral singlet microtubules. 9606.ENSP00000341483,RANBP3,567,"Ran-binding protein 3; Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export." 9606.ENSP00000341489,SYDE1,735,"Rho GTPase-activating protein SYDE1; GTPase activator for the Rho-type GTPases. As a GCM1 downstream effector, it is involved in placental development and positively regulates trophoblast cells migration. It regulates cytoskeletal remodeling by controlling the activity of Rho GTPases including RHOA, CDC42 and RAC1." 9606.ENSP00000341490,ISM2,571,Isthmin-2; Isthmin 2. 9606.ENSP00000341524,SEPTIN6,434,"Septin-6; Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family." 9606.ENSP00000341528,ZNF34,560,Zinc finger protein 34; May be involved in transcriptional regulation. 9606.ENSP00000341539,TCAIM,496,"T-cell activation inhibitor, mitochondrial; May regulate T-cell apoptosis." 9606.ENSP00000341549,KLHL33,533,Kelch-like protein 33; Kelch like family member 33. 9606.ENSP00000341550,SLC24A5,500,"Sodium/potassium/calcium exchanger 5; Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium- Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily." 9606.ENSP00000341551,SMAD4,552,"Mothers against decapentaplegic homolog 4; In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac- specific gene expression. Binds to SMAD binding elements (SBEs) (5'- GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By [...] " 9606.ENSP00000341562,B4GALNT1,533,"Beta-1,4 N-acetylgalactosaminyltransferase 1; Involved in the biosynthesis of gangliosides GM2, GD2 and GA2." 9606.ENSP00000341564,PAQR9,377,"Membrane progestin receptor epsilon; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(s) mediated pathway. May be involved in regulating rapid P4 signaling in the nervous system. Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone." 9606.ENSP00000341565,FAM111B,734,Protein FAM111B; Family with sequence similarity 111 member B; Belongs to the FAM111 family. 9606.ENSP00000341581,OR52B6,335,Olfactory receptor 52B6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000341597,FAM114A2,505,Protein FAM114A2; Family with sequence similarity 114 member A2; Belongs to the FAM114 family. 9606.ENSP00000341610,C15orf48,83,Normal mucosa of esophagus-specific gene 1 protein; Chromosome 15 open reading frame 48; Belongs to the complex I NDUFA4 subunit family. 9606.ENSP00000341625,CYB5A,134,Cytochrome b5; Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. 9606.ENSP00000341637,NCR3LG1,454,Natural cytotoxicity triggering receptor 3 ligand 1; Triggers NCR3-dependent natural killer cell activation. 9606.ENSP00000341657,THYN1,225,"Thymocyte nuclear protein 1; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC." 9606.ENSP00000341662,AGMO,445,Alkylglycerol monooxygenase; Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes. 9606.ENSP00000341677,TPD52L3,140,Tumor protein D55; TPD52 like 3; Belongs to the TPD52 family. 9606.ENSP00000341680,DTNBP1,351,"Dysbindin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role i [...] " 9606.ENSP00000341684,CCDC15,951,Coiled-coil domain containing 15. 9606.ENSP00000341743,ENSA,137,"Alpha-endosulfine; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents." 9606.ENSP00000341762,BSPH1,132,"Binder of sperm protein homolog 1; Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B." 9606.ENSP00000341765,SPATA16,569,"Spermatogenesis-associated protein 16; Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion." 9606.ENSP00000341779,PPP1CC,337,"Serine/threonine-protein phosphatase PP1-gamma catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density- asso [...] " 9606.ENSP00000341785,ADIPOR1,375,"Adiponectin receptor protein 1; Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism. Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity); Belongs to the ADIPOR family." 9606.ENSP00000341787,BTNL3,466,Butyrophilin-like protein 3; Butyrophilin like 3. 9606.ENSP00000341803,TCTEX1D4,221,Tctex1 domain containing 4. 9606.ENSP00000341805,PHF10,498,PHD finger protein 10; Involved in transcription activity regulation by chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. [...] 9606.ENSP00000341815,SOX18,384,"Transcription factor SOX-18; Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction [...] " 9606.ENSP00000341819,VWC2,325,Brorin; BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity). 9606.ENSP00000341821,FPR3,353,"N-formyl peptide receptor 3; Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system." 9606.ENSP00000341826,HNRNPA1,372,"Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection. May bind to specific miRNA hairpins. Binds to the IRES and thereby inhibits the translation of the apoptosis protease activating factor APAF1. (Microbial infection) Cleavage by Enterovirus 71 protease 3C results in increased translation of apoptosis protease activating factor APAF1, leading to apoptosis." 9606.ENSP00000341838,TNNI3,210,"Troponin I, cardiac muscle; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity." 9606.ENSP00000341843,ETV7,341,Transcription factor ETV7; Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity; Belongs to the ETS family. 9606.ENSP00000341874,RIOK3,519,Serine/threonine-protein kinase RIO3; Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3. Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling. Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway. May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of 2 [...] 9606.ENSP00000341885,RPS2,293,Ribosomal protein S2. 9606.ENSP00000341905,RASAL3,1011,RAS protein activator like-3; Functions as a Ras GTPase-activating protein. Plays an important role in the expansion and functions of natural killer T (NKT) cells in the liver by negatively regulating RAS activity and the down- stream ERK signaling pathway. 9606.ENSP00000341911,PALM,387,"Paralemmin-1; Involved in plasma membrane dynamics and cell process formation. Isoform 1 and isoform 2 are necessary for axonal and dendritic filopodia induction, for dendritic spine maturation and synapse formation in a palmitoylation-dependent manner." 9606.ENSP00000341914,PTCHD4,846,"Patched domain-containing protein 4; Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4- expressing cells; Belongs to the patched family." 9606.ENSP00000341940,CAV3,151,Caveolin-3; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae ; Belongs to the caveolin family. 9606.ENSP00000341942,ATP13A5,1218,ATPase 13A5; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. 9606.ENSP00000341944,LRRC66,880,Leucine-rich repeat-containing protein 66; Leucine rich repeat containing 66. 9606.ENSP00000341947,LIN54,749,"Protein lin-54 homolog; Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context. In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes. In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation. In the complex, acts as a DNA-binding protein that binds the promoter of CDK1 in a sequence- specific manner. Specifically recognizes the consens [...] " 9606.ENSP00000341957,TP53BP2,1134,"Apoptosis-stimulating of p53 protein 2; Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42." 9606.ENSP00000341961,FOXD4L3,417,Forkhead box D4 like 3. 9606.ENSP00000341963,RSC1A1,617,"Regulatory solute carrier protein family 1 member 1; Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network." 9606.ENSP00000341988,SPATA31D1,1576,Spermatogenesis-associated protein 31D1; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000341992,NANOS3,192,Nanos homolog 3; Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis. 9606.ENSP00000342002,ZNF93,620,"Zinc finger protein 93; Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognizes and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1. Not able to repress expression of all subtypes of L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or older subtypes nor at the most recently evolved L1PA2 and L1Hs. 50% of L1PA3 elements have lost the ZNF93-binding site, explaining why ZNF93 is not able to repress [...] " 9606.ENSP00000342007,CYP1A2,516,"Cytochrome P450 1A2; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta- estradiol (E2), namely 2-hydroxy E1 and [...] " 9606.ENSP00000342012,DMKN,476,Dermokine; May act as a soluble regulator of keratinocyte differentiation. 9606.ENSP00000342015,COX19,90,Cytochrome c oxidase assembly protein COX19; Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis. May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity). Belongs to the COX19 family. 9606.ENSP00000342019,ZNF189,626,Zinc finger protein 189; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000342023,FBXO38,1188,"F-box only protein 38; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity. Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival. May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without [...] " 9606.ENSP00000342026,PRDX6,224,"Peroxiredoxin-6; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. Also has phospholipase activity, and can therefore either reduce the oxidized sn-2 fatty acyl grup of phospholipids (peroxidase activity) or hydrolyze the sn-2 ester bond of phospholipids (phospholipase activity). These activities are dependent on binding to phospholipids at acidic pH and to oxidized phospholipds at cytosolic pH. Plays a role [...] " 9606.ENSP00000342056,CS,466,"Citrate synthase, mitochondrial; Citrate synthase; Belongs to the citrate synthase family." 9606.ENSP00000342082,SLPI,132,"Antileukoproteinase; Acid-stable proteinase inhibitor with strong affinities for trypsin, chymotrypsin, elastase, and cathepsin G. Modulates the inflammatory and immune responses after bacterial infection, and after infection by the intracellular parasite L.major. Down-regulates responses to bacterial lipopolysaccharide (LPS) (By similarity). Plays a role in regulating the activation of NF-kappa- B and inflammatory responses. Has antimicrobial activity against mycobacteria, but not against salmonella. Contributes to normal resistance against infection by M.tuberculosis. Required for no [...] " 9606.ENSP00000342097,OBP2A,228,Odorant binding protein 2A; Belongs to the calycin superfamily. Lipocalin family. 9606.ENSP00000342098,SPINT1,529,Kunitz-type protease inhibitor 1; Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14). 9606.ENSP00000342105,DYRK2,601,"Dual specificity tyrosine-phosphorylation-regulated kinase 2; Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosp [...] " 9606.ENSP00000342109,SERPINA12,414,Serpin A12; Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues. Belongs to the serpin family. 9606.ENSP00000342114,ICAM4,272,Intercellular adhesion molecule 4; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM4 is also a ligand for alpha- 4/beta-1 and alpha-V integrins. 9606.ENSP00000342118,HHIPL2,724,HHIP-like protein 2; HHIP like 2; Belongs to the HHIP family. 9606.ENSP00000342136,CREB3,371,"Processed cyclic AMP-responsive element-binding protein 3; Endoplasmic reticulum (ER)-bound sequence-specific transcription factor that directly binds DNA and activates transcription. Plays a role in the unfolded protein response (UPR), promoting cell survival versus ER stress-induced apoptotic cell death. Also involved in cell proliferation, migration and differentiation, tumor suppression and inflammatory gene expression. Acts as a positive regulator of LKN- 1/CCL15-induced chemotaxis signaling of leukocyte cell migration. Associates with chromatin to the HERPUD1 promoter. Also induc [...] " 9606.ENSP00000342137,NCCRP1,275,F-box only protein 50; Promotes cell proliferation. 9606.ENSP00000342143,PDZK1,519,"Na(+)/H(+) exchange regulatory cofactor NHE-RF3; A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resista [...] " 9606.ENSP00000342144,EVC2,1308,Limbin; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. 9606.ENSP00000342148,TMEM167B,74,Protein kish-B; Involved in the early part of the secretory pathway. Belongs to the KISH family. 9606.ENSP00000342156,NCR3,201,"Natural cytotoxicity triggering receptor 3; Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK cells cytotoxicity against tumor cells. Engagement of NCR3 by BAG6 also promotes myeloid dendritic cells (DC) maturation, both through killing DCs that did not acquire a mature phenotype, and inducing the release by NK cells of TNFA and IFNG which promote DC maturation." 9606.ENSP00000342162,TMEM221,291,Transmembrane protein 221. 9606.ENSP00000342169,TEX9,391,Testis-expressed protein 9; Testis expressed 9. 9606.ENSP00000342188,LRRIQ4,560,Leucine rich repeats and IQ motif containing 4. 9606.ENSP00000342197,BTNL8,500,Butyrophilin-like protein 8; May stimulate primary immune response. Acts on T-cell stimulated sub-optimally through the TCR/CD3 complex stimulating their proliferation and cytokine production; Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000342215,KIR2DL3,341,"Killer cell immunoglobulin-like receptor 2DL3; Receptor on natural killer (NK) cells for HLA-C alleles (HLA- Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis." 9606.ENSP00000342216,ABCA9,1624,ATP-binding cassette sub-family A member 9; May play a role in monocyte differentiation and lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family. 9606.ENSP00000342222,TRPV2,764,"Transient receptor potential cation channel subfamily V member 2; Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF- I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH." 9606.ENSP00000342235,ERBB4,1308,"Receptor tyrosine-protein kinase erbB-4; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal [...] " 9606.ENSP00000342240,XAGE5,108,X antigen family member 5; Belongs to the GAGE family. 9606.ENSP00000342254,C15orf61,157,Uncharacterized protein C15orf61; Chromosome 15 open reading frame 61. 9606.ENSP00000342262,NUP43,380,"Nucleoporin Nup43; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation." 9606.ENSP00000342267,SLC25A15,301,Mitochondrial ornithine transporter 1; Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline. The stoichiometry is close to 1:1 (By similarity). Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000342276,SNX18,628,"Sorting nexin-18; Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin- independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 lo [...] " 9606.ENSP00000342278,OAS2,719,"2'-5'-oligoadenylate synthase 2; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. Activated by detection of double stranded RNA (dsRNA): polymerizes higher oligomers of 2'-5'- oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNASEL) leading to its dimerization and subsequent activation. Activation of RNASEL leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antivi [...] " 9606.ENSP00000342295,ANKRD55,614,Ankyrin repeat domain 55. 9606.ENSP00000342307,FOXM1,801,Forkhead box protein M1; Transcriptional factor regulating the expression of cell cycle genes essential for DNA replication and mitosis. Plays a role in the control of cell proliferation. Plays also a role in DNA breaks repair participating in the DNA damage checkpoint response. 9606.ENSP00000342313,SAMD11,681,Sterile alpha motif domain-containing protein 11; May play a role in photoreceptor development. 9606.ENSP00000342322,TM7SF3,570,"Transmembrane 7 superfamily member 3; Involved in the inhibition of cytokine-induced death of pancreatic beta cells. Involved in the promotion of insulin secretion from pancreatic beta cells. Is a downstream transcriptional target of p53/TP53, and acts as a pro-survival homeostatic factor that attenuates the development of cellular stress. Maintains protein homeostasis and promotes cell survival through attenuation of endoplasmic reticulum (ER) stress and the subsequent induction of unfolded protein response (UPR)." 9606.ENSP00000342331,BORCS7,106,"BLOC-1-related complex subunit 7; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Belongs to the BORCS7 family." 9606.ENSP00000342336,FAM180A,173,Protein FAM180A; Family with sequence similarity 180 member A. 9606.ENSP00000342351,NRF1,522,"Nuclear respiratory factor 1; Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication." 9606.ENSP00000342356,OSTN,133,"Processed Osteocrin; Hormone that acts as a regulator of dendritic growth in the developing cerebral cortex in response to sensory experience. Induced in the brain following membrane depolarization and inhibits dendritic branching in neurons of the developing cortex. Probably acts by binding to natriuretic peptide receptor NPR3/NPR-C, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity); Belongs to the Osteocrin family." 9606.ENSP00000342374,SNRPD2,118,"Small nuclear ribonucleoprotein Sm D2; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome." 9606.ENSP00000342385,PTGES,152,Prostaglandin E synthase; Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2); Belongs to the MAPEG family. 9606.ENSP00000342392,MESP2,397,"Mesoderm posterior protein 2; Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together w [...] " 9606.ENSP00000342411,NRN1L,165,Neuritin-like protein; Neuritin 1 like. 9606.ENSP00000342434,BAZ1B,1483,"Tyrosine-protein kinase BAZ1B; Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates [...] " 9606.ENSP00000342448,OR5W2,310,Olfactory receptor 5W2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000342481,ATP9A,1047,Probable phospholipid-transporting ATPase IIA; ATPase phospholipid transporting 9A. 9606.ENSP00000342499,TSTD2,516,Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2; Thiosulfate sulfurtransferase like domain containing 2. 9606.ENSP00000342501,MFSD2B,504,Major facilitator superfamily domain-containing protein 2B; Cation-dependent lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets. Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Does not transport lysophosphatidylcholine (LPC) (By similarity). Belongs to the major facilitator superfamily. 9606.ENSP00000342502,PYCR2,320,"Pyrroline-5-carboxylate reductase 2; Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH. Involved in cellular response to oxidative stress. Belongs to the pyrroline-5-carboxylate reductase family." 9606.ENSP00000342510,CEP97,865,Centrosomal protein of 97 kDa; Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome. 9606.ENSP00000342512,C3orf33,294,Protein C3orf33; [Isoform 2]: Secreted protein may play a role in transcription regulation via the MAPK3/MAPK1 pathway through an unidentified receptor on the plasma membrane. 9606.ENSP00000342513,IFI6,138,"Interferon alpha-inducible protein 6; Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis. However, it has also been shown to have a pro-apoptotic activity. Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, which activation is required for entry of the virus into cells. Belongs to the IFI6/IFI27 family." 9606.ENSP00000342538,STMN4,216,Stathmin-4; Exhibits microtubule-destabilizing activity. 9606.ENSP00000342560,HRH3,445,Histamine H3 receptor; The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization. 9606.ENSP00000342570,TREML4,200,Trem-like transcript 4 protein; Positively regulates Toll-like receptor TLR7 signaling in macrophages. 9606.ENSP00000342576,FAM221A,298,Protein FAM221A; Family with sequence similarity 221 member A; Belongs to the FAM221 family. 9606.ENSP00000342604,FAM184A,1140,Protein FAM184A; Family with sequence similarity 184 member A. 9606.ENSP00000342609,ACER2,275,"Alkaline ceramidase 2; Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides. Saturated long-chain ceramides and unsaturated very long-chain ceramides [...] " 9606.ENSP00000342637,PDE4B,736,"cAMP-specific 3',5'-cyclic phosphodiesterase 4B; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents. Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily." 9606.ENSP00000342676,AURKAIP1,199,"Aurora kinase A-interacting protein; May act as a negative regulator of Aurora-A kinase, by down- regulation through proteasome-dependent degradation." 9606.ENSP00000342680,EZHIP,503,"EZH inhibitory protein; Inhibits PRC2/EED-EZH2 complex function thereby causing down- regulation of H3K27me3. In the PRC2/EED-EZH2 complex, interacts and inhibits EZH2 methyltransferase activity." 9606.ENSP00000342681,CD5,495,T-cell surface glycoprotein CD5; May act as a receptor in regulating T-cell proliferation. 9606.ENSP00000342699,CFAP36,367,Cilia- and flagella-associated protein 36; May act as an effector for ARL3; Belongs to the CFAP36 family. 9606.ENSP00000342710,KRT77,578,"Keratin, type II cytoskeletal 1b; Keratin 77." 9606.ENSP00000342755,RNF41,317,"E3 ubiquitin-protein ligase NRDP1; Acts as E3 ubiquitin-protein ligase and regulates the degradation of target proteins. Polyubiquitinates MYD88. Negatively regulates MYD88-dependent production of proinflammatory cytokines. Can promote TRIF-dependent production of type I interferon and inhibits infection with vesicular stomatitis virus (By similarity). Promotes also activation of TBK1 and IRF3. Involved in the ubiquitination of erythropoietin (EPO) and interleukin-3 (IL-3) receptors. Thus, through maintaining basal levels of cytokine receptors, RNF41 is involved in the control of hemat [...] " 9606.ENSP00000342778,PPM1G,546,"Protein phosphatase, Mg2+/Mn2+ dependent 1G." 9606.ENSP00000342790,FAM25A,89,Protein FAM25A; Family with sequence similarity 25 member A; Belongs to the FAM25 family. 9606.ENSP00000342793,PLD1,1074,"Phospholipase D1; Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity)." 9606.ENSP00000342805,FAIM,213,Fas apoptotic inhibitory molecule 1; Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells. Belongs to the FAIM1 family. 9606.ENSP00000342812,USP9Y,2555,"Probable ubiquitin carboxyl-terminal hydrolase FAF-Y; May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable co [...] " 9606.ENSP00000342818,ZNF669,464,Zinc finger protein 669; May be involved in transcriptional regulation. 9606.ENSP00000342828,NKX2-3,364,Homeobox protein Nkx-2.3; Transcription factor; Belongs to the NK-2 homeobox family. 9606.ENSP00000342832,YPEL1,119,Protein yippee-like 1; May play a role in epithelioid conversion of fibroblasts; Belongs to the yippee family. 9606.ENSP00000342836,OR6C74,312,Olfactory receptor 6C74; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000342840,LYSMD4,297,LysM and putative peptidoglycan-binding domain-containing protein 4; LysM domain containing 4. 9606.ENSP00000342848,NOXA1,483,"NADPH oxidase activator 1; Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3. Belongs to the NCF2/NOXA1 family." 9606.ENSP00000342850,SERPINA6,405,Corticosteroid-binding globulin; Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species. 9606.ENSP00000342858,FERMT2,687,"Fermitin family homolog 2; Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and ce [...] " 9606.ENSP00000342889,POLR2K,58,"DNA-directed RNA polymerases I, II, and III subunit RPABC4; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively." 9606.ENSP00000342924,MCPH1,835,Microcephalin; Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. 9606.ENSP00000342931,POU1F1,317,"Pituitary-specific positive transcription factor 1; Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'- TAAAT-3'. Activates growth hormone and prolactin genes ; Belongs to the POU transcription factor family. Class-1 subfamily." 9606.ENSP00000342938,UPK3BL1,263,Uroplakin-3b-like protein 1; Uroplakin 3B like 1. 9606.ENSP00000342952,ADCY2,1091,Adenylate cyclase type 2; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. 9606.ENSP00000342962,SERINC1,453,Serine incorporator 1; Enhances the incorporation of serine into phosphatidylserine and sphingolipids; Belongs to the TDE1 family. 9606.ENSP00000342974,ZNF791,576,Zinc finger protein 791; May be involved in transcriptional regulation. 9606.ENSP00000342981,ADGRG5,528,"Adhesion G-protein coupled receptor G5; Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide-binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Isoform 1, but not isoform 2, is constitutively active, as evidenced by elevated basal cAMP levels, and responds to mechanical activation (shaking)." 9606.ENSP00000343001,UBE4B,1302,Ubiquitin conjugation factor E4 B; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases (By similarity). May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase (By similarity). May regulate myosin assembly in striated muscles together with STUB1 and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation. 9606.ENSP00000343002,B3GLCT,498,"Beta-1,3-glucosyltransferase; O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan." 9606.ENSP00000343023,SP100,885,"Nuclear autoantigen Sp-100; Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through interaction with the MRN complex it ma [...] " 9606.ENSP00000343054,RBM5,815,"RNA-binding protein 5; Component of the spliceosome A complex. Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby pr [...] " 9606.ENSP00000343064,GOLGA8B,603,Golgin subfamily A member 8B; May be involved in maintaining Golgi structure. Belongs to the GOLGA8 family. 9606.ENSP00000343081,PUS7L,701,Pseudouridylate synthase 7 homolog-like protein; Pseudouridylate synthase that catalyzes pseudouridylation of RNAs; Belongs to the pseudouridine synthase TruD family. 9606.ENSP00000343103,PRMT7,692,"Protein arginine N-methyltransferase 7; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being [...] " 9606.ENSP00000343118,LAMTOR4,99,"Ragulator complex protein LAMTOR4, N-terminally processed; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V- ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated; Belongs to the LAMTOR4 family." 9606.ENSP00000343129,TRIM29,588,"Tripartite motif-containing protein 29; Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its 'Lys-48' ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of proinflammatory cytokines are inhibited. Additionally, induces the 'Lys-48' ubiquitination of STING1 in a similar way, leading to its degradation." 9606.ENSP00000343140,XIRP1,1843,Xin actin-binding repeat-containing protein 1; Protects actin filaments from depolymerization. Belongs to the Xin family. 9606.ENSP00000343144,PARD6G,376,Partitioning defective 6 homolog gamma; Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (By similarity). 9606.ENSP00000343158,EPB41L3,1087,"Band 4.1-like protein 3, N-terminally processed; Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N- methyltransferases, including PRMT3 and PRMT5." 9606.ENSP00000343171,C2orf80,193,Uncharacterized protein C2orf80; Chromosome 2 open reading frame 80. 9606.ENSP00000343172,PRR27,219,Proline-rich protein 27; Proline rich 27. 9606.ENSP00000343190,PPCDC,204,Phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4'- phosphopantotheine; Belongs to the HFCD (homooligomeric flavin containing Cys decarboxylase) superfamily. 9606.ENSP00000343200,SKOR1,868,SKI family transcriptional corepressor 1. 9606.ENSP00000343221,LRRC69,191,Leucine-rich repeat-containing protein 69; Leucine rich repeat containing 69. 9606.ENSP00000343223,TCL1B,128,T-cell leukemia/lymphoma protein 1B; Enhances the phosphorylation and activation of AKT1 and AKT2. 9606.ENSP00000343242,ZBED6CL,236,ZBED6 C-terminal-like protein; ZBED6 C-terminal like. 9606.ENSP00000343244,DUSP21,190,"Dual specificity protein phosphatase 21; Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine." 9606.ENSP00000343248,SBK1,424,Serine/threonine-protein kinase SBK1; May be involved in signal-transduction pathways related to the control of brain development; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. 9606.ENSP00000343273,KLHL7,586,Kelch-like protein 7; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. 9606.ENSP00000343288,FOXN3,490,Forkhead box protein N3; Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints). 9606.ENSP00000343290,CFAP77,320,Cilia and flagella associated protein 77. 9606.ENSP00000343325,PKN1,948,"Serine/threonine-protein kinase N1; PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Se [...] " 9606.ENSP00000343331,LIPI,481,"Lipase member I; Hydrolyzes specifically phosphatidic acid (PA) to produce 2- acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG). Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000343339,P2RX2,497,"P2X purinoceptor 2; Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle." 9606.ENSP00000343348,VMAC,169,Vimentin type intermediate filament associated coiled-coil protein. 9606.ENSP00000343366,VSTM1,236,"V-set and transmembrane domain-containing protein 1; [Isoform 2]: Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17)." 9606.ENSP00000343377,CCDC18,1454,Coiled-coil domain containing 18. 9606.ENSP00000343398,TMPPE,453,Transmembrane protein with metallophosphoesterase domain. 9606.ENSP00000343405,SEC24C,1094,"Protein transport protein Sec24C; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B. May more specifically package GPI-anchored proteins through the cargo receptor [...] " 9606.ENSP00000343412,BABAM2,415,"BRISC and BRCA1-A complex member 2; Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'- linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integri [...] " 9606.ENSP00000343428,GPR18,331,"N-arachidonyl glycine receptor; Receptor for endocannabinoid N-arachidonyl glycine (NAGly). However, conflicting results about the role of NAGly as an agonist are reported. Can also be activated by plant-derived and synthetic cannabinoid agonists. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. May contribute to regulation of the immune system. Is required for normal homeostasis of CD8+ subsets of intraepithelial lymphocytes (IELs) (CD8alphaalpha and CD8alphabeta IELs)in small intstine by supporting preferential migration of CD8alphaalpha T-cells [...] " 9606.ENSP00000343435,YIF1B,314,"Protein YIF1B; Yip1 interacting factor homolog B, membrane trafficking protein." 9606.ENSP00000343445,SERPINB4,390,Serpin B4; May act as a protease inhibitor to modulate the host immune response against tumor cells. 9606.ENSP00000343479,NBR1,966,Next to BRCA1 gene 1 protein; Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets. 9606.ENSP00000343490,LCTL,567,"Lactase-like protein; Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily." 9606.ENSP00000343493,C17orf99,265,Protein IL-40; Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production. 9606.ENSP00000343497,NOSIP,304,"Nitric oxide synthase-interacting protein; E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity. Belongs to the NOSIP family." 9606.ENSP00000343505,TNFSF13,250,Tumor necrosis factor ligand superfamily member 13; Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes. 9606.ENSP00000343507,TMEM198,360,Transmembrane protein 198; Promotes LRP6 phosphorylation by casein kinases and thereby plays a role in Wnt signaling. May be a membrane scaffold protein involved in the self-aggregation of LRP6 to further enhance its activity. 9606.ENSP00000343515,TCEA2,299,"Transcription elongation factor A protein 2; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus. Belongs to the TFS-II family." 9606.ENSP00000343521,OR1J4,313,Olfactory receptor 1J4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000343526,USP1,785,Ubiquitin carboxyl-terminal hydrolase 1; Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2. Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. 9606.ENSP00000343535,USP7,1102,"Ubiquitin carboxyl-terminal hydrolase 7; Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis. Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the p [...] " 9606.ENSP00000343552,ICMT,284,Protein-S-isoprenylcysteine O-methyltransferase; Catalyzes the post-translational methylation of isoprenylated C-terminal cysteine residues. 9606.ENSP00000343577,TPSAB1,275,"Tryptase alpha/beta-1; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates." 9606.ENSP00000343581,ZFP30,519,Zinc finger protein 30 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000343617,ZNF606,792,Zinc finger protein 606; May act as a transcriptional repressor. 9606.ENSP00000343619,HOXA9,272,"Homeobox protein Hox-A9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation." 9606.ENSP00000343629,PRRC2C,2817,Protein PRRC2C; Proline rich coiled-coil 2C. 9606.ENSP00000343633,FOXN2,431,Forkhead box protein N2; Binds to the purine-rich region in HTLV-I LTR. 9606.ENSP00000343635,MEAK7,456,"MTOR-associated protein MEAK7; Activates an alternative mTOR signaling through RPS6KB2 activation and EIF4EBP1 repression to regulate cell proliferation and migration. Recruits MTOR at the lysosome, essential for MTOR signaling at the lysosome." 9606.ENSP00000343636,GFRAL,394,"GDNF family receptor alpha-like; Brainstem-restricted receptor for GDF15 which regulates food intake, energy expenditure and body weight in response to metabolic and toxin-induced stresses. Upon interaction with its ligand, GDF15, interacts with RET and induces cellular signaling through activation of MAPK- and AKT- signaling pathways. Belongs to the GDNFR family." 9606.ENSP00000343656,RAPGEF5,730,"Rap guanine nucleotide exchange factor 5; Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation." 9606.ENSP00000343657,MCCC2,563,"Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism; Belongs to the AccD/PCCB family." 9606.ENSP00000343658,MAP4K4,1273,Mitogen-activated protein kinase kinase kinase kinase 4; Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway. Phosphorylates SMAD1 on Thr- 322. 9606.ENSP00000343674,ASTL,431,"Astacin-like metalloendopeptidase; Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity)." 9606.ENSP00000343676,GJA4,333,"Gap junction alpha-4 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000343690,DPYSL3,684,"Dihydropyrimidinase-related protein 3; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity)." 9606.ENSP00000343701,KPNA1,538,"Importin subunit alpha-5, N-terminally processed; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and impo [...] " 9606.ENSP00000343706,MAGEH1,219,Melanoma-associated antigen H1; MAGE family member H1. 9606.ENSP00000343741,ATR,2644,"Serine/threonine-protein kinase ATR; Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]- Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX at sites of DNA damage, thereby regulating DNA damage respon [...] " 9606.ENSP00000343742,BROX,411,BRO1 domain-containing protein BROX; BRO1 domain and CAAX motif containing; Belongs to the BROX family. 9606.ENSP00000343746,CORO2A,525,Coronin-2A; Coronin 2A; Belongs to the WD repeat coronin family. 9606.ENSP00000343782,ADRB3,408,Beta-3 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta- 3 is involved in the regulation of lipolysis and thermogenesis. 9606.ENSP00000343818,CDK5RAP2,1893,"CDK5 regulatory subunit-associated protein 2; Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of [...] " 9606.ENSP00000343838,UGT1A10,530,UDP-glucuronosyltransferase 1-10; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. 9606.ENSP00000343847,NEK10,712,Serine/threonine-protein kinase Nek10; NIMA related kinase 10; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. 9606.ENSP00000343867,MRRF,262,"Ribosome-recycling factor, mitochondrial; Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity)." 9606.ENSP00000343871,TMTC4,760,"Protein O-mannosyl-transferase TMTC4; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3." 9606.ENSP00000343885,PPA2,334,"Inorganic pyrophosphatase 2, mitochondrial; Hydrolyzes inorganic pyrophosphate. This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function ; Belongs to the PPase family." 9606.ENSP00000343890,CPTP,214,"Ceramide-1-phosphate transfer protein; Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1- phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity [...] " 9606.ENSP00000343891,NLRP13,1043,"NACHT, LRR and PYD domains-containing protein 13; Involved in inflammation." 9606.ENSP00000343896,SMARCA4,1647,"Transcription activator BRG1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium- dependent release of a repressor complex and the recruitment of an activator complex. In resting ne [...] " 9606.ENSP00000343899,FRMD6,622,FERM domain containing 6. 9606.ENSP00000343900,CPSF4L,179,Putative cleavage and polyadenylation specificity factor subunit 4-like protein; Cleavage and polyadenylation specific factor 4 like; Belongs to the CPSF4/YTH1 family. 9606.ENSP00000343924,PRELP,382,Prolargin; May anchor basement membranes to the underlying connective tissue. 9606.ENSP00000343925,ESR2,530,"Estrogen receptor beta; Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner. Isoform beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at elevated temperature [...] " 9606.ENSP00000343930,KLHL17,642,Kelch-like protein 17; Substrate-recognition component of some cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity). 9606.ENSP00000343952,CCR6,374,C-C chemokine receptor type 6; Receptor for the C-C type chemokine CCL20. Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels. Although CCL20 is its major ligand it can also act as a receptor for non-chemokine ligands such as beta-defensins. Binds to defensin DEFB1 leading to increase in intracellular calcium ions and cAMP levels. Its binding to DEFB1 is essential for the function of DEFB1 in regulating sperm motility and bactericidal activity. Binds to defensins DEFB4 and DEFB4A/B and mediates their chemotactic effects. The ligand-rec [...] 9606.ENSP00000343957,IFNAR2,515,"Interferon alpha/beta receptor 2; Associates with IFNAR1 to form the type I interferon receptor. Receptor for interferons alpha and beta. Involved in IFN- mediated STAT1, STAT2 and STAT3 activation. Isoform 1 and isoform 2 are directly involved in signal transduction due to their association with the TYR kinase, JAK1. Isoform 3 is a potent inhibitor of type I IFN receptor activity." 9606.ENSP00000343966,PSPC1,523,"Paraspeckle component 1; Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Together with NONO, required for the formation of nuclear paraspeckles. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 pho [...] " 9606.ENSP00000344040,OR2S2,319,Olfactory receptor 2S2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000344041,SYNGR4,234,Synaptogyrin-4; Synaptogyrin 4. 9606.ENSP00000344071,METTL24,366,Methyltransferase-like protein 24; Methyltransferase like 24. 9606.ENSP00000344087,AUTS2,1259,"Autism susceptibility gene 2 protein; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RN [...] " 9606.ENSP00000344125,POMGNT2,580,"Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D- mannosylprotein. Involved in the biosynthesis of the phosphorylated O- mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N- acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affini [...] " 9606.ENSP00000344129,ZNF648,568,Zinc finger protein 648; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000344140,PPP1R32,425,Protein phosphatase 1 regulatory subunit 32. 9606.ENSP00000344155,ABCA2,2436,"ATP-binding cassette sub-family A member 2; Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development." 9606.ENSP00000344162,ZNF136,540,"Zinc finger protein 136; May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain; Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000344166,TMEM189-UBE2V1,370,TMEM189-UBE2V1 readthrough. 9606.ENSP00000344208,TRIM14,442,"Tripartite motif-containing protein 14; Plays a role in the innate immune defense against viruses. Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF-kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways. Positively regulates the CGAS-induced type I interferon signaling pathway by stabilizing CGAS and inhibiting its autophagic degradation ; Belongs to the TRIM/RBCC family." 9606.ENSP00000344215,TP53INP1,240,"Tumor protein p53-inducible nuclear protein 1; Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy. Acts as a positive regulator of autophagy. In response to cellular stress or activation of autophagy, relocates to autophagosomes where it interacts with autophagosome-associated proteins GABARAP, GABARAPL1/L2, MAP1LC3A/B/C and regulates autophagy. Acts as an antioxidant and plays a major role in p53/TP53-driven oxidative stress response. Possesses both a p53/TP53-independent intracellular reactive oxyg [...] " 9606.ENSP00000344218,C1orf162,155,Transmembrane protein C1orf162; Chromosome 1 open reading frame 162. 9606.ENSP00000344219,SUSD4,490,"Sushi domain-containing protein 4; Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways." 9606.ENSP00000344220,PDPK1,556,"3-phosphoinositide-dependent protein kinase 1; Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central rol [...] " 9606.ENSP00000344223,MBTPS1,1052,"Membrane-bound transcription factor site-1 protease; Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysos [...] " 9606.ENSP00000344233,LRRC43,656,Leucine-rich repeat-containing protein 43; Leucine rich repeat containing 43. 9606.ENSP00000344241,ZMAT5,170,Zinc finger matrin-type 5. 9606.ENSP00000344242,LRRC17,441,Leucine-rich repeat-containing protein 17; Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity). 9606.ENSP00000344260,GALNT15,639,"Polypeptide N-acetylgalactosaminyltransferase 15; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate." 9606.ENSP00000344285,BSX,233,Brain-specific homeobox protein homolog; DNA binding protein that function as transcriptional activator. Is essential for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity); Belongs to the distal-less homeobox family. 9606.ENSP00000344299,PTAR1,402,Protein prenyltransferase alpha subunit repeat containing 1. 9606.ENSP00000344314,OFD1,1012,"Oral-facial-digital syndrome 1 protein; Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriol [...] " 9606.ENSP00000344331,DIPK1C,419,Divergent protein kinase domain 1C. 9606.ENSP00000344352,ATF3,181,"Cyclic AMP-dependent transcription factor ATF-3; This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. Isoform 2 activates transcription presumably by sequestering inhibitory cofactors away from the promoters." 9606.ENSP00000344392,CLUAP1,432,Clusterin-associated protein 1; Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling. 9606.ENSP00000344393,FCF1,198,rRNA-processing protein FCF1 homolog; Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly; Belongs to the UTP23/FCF1 family. FCF1 subfamily. 9606.ENSP00000344401,LIN28B,250,"Protein lin-28 homolog B; Suppressor of microRNA (miRNA) biogenesis, including that of let-7 and possibly of miR107, miR-143 and miR-200c. Binds primary let-7 transcripts (pri-let-7), including pri-let-7g and pri-let-7a-1, and sequester them in the nucleolus, away from the microprocessor complex, hence preventing their processing into mature miRNA. Does not act on pri-miR21. The repression of let-7 expression is required for normal development and contributes to maintain the pluripotent state of embryonic stem cells by preventing let-7-mediated differentiation. When overexpressed, recr [...] " 9606.ENSP00000344411,TAS1R3,852,Taste receptor type 1 member 3; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. 9606.ENSP00000344420,KRTAP1-3,167,"Keratin-associated protein 1-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000344424,SUSD6,303,Sushi domain-containing protein 6; May play a role in growth-suppressive activity and cell death. May be involved in the production of chemokine molecules in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium. Plays a role in preventing tumor onset (By similarity). 9606.ENSP00000344430,IFITM10,228,Interferon induced transmembrane protein 10. 9606.ENSP00000344431,DNAJB13,316,DnaJ homolog subfamily B member 13; Plays a role in the formation of the central complex of ciliary and flagellar axonemes. 9606.ENSP00000344432,DOK7,504,Protein Dok-7; Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. 9606.ENSP00000344446,FGD6,1430,"FYVE, RhoGEF and PH domain-containing protein 6; May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity)." 9606.ENSP00000344458,PROZ,422,"Vitamin K-dependent protein Z; Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids; Belongs to the peptidase S1 family." 9606.ENSP00000344465,PEAR1,1037,"Platelet endothelial aggregation receptor 1; When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells." 9606.ENSP00000344468,SDC3,442,"Syndecan-3; Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism." 9606.ENSP00000344479,NR4A2,598,"Nuclear receptor subfamily 4 group A member 2; Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity); Belongs to the nuclear hormone receptor family. NR4 subfamily." 9606.ENSP00000344488,JPH1,661,Junctophilin-1; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes. 9606.ENSP00000344489,RNF133,376,E3 ubiquitin-protein ligase RNF133; Has E3 ubiquitin-protein ligase activity. 9606.ENSP00000344503,TMEM201,666,Transmembrane protein 201; Involved in nuclear movement during fibroblast polarization and migration. Proposed to be involved in actin-dependent nuclear movement via association with transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow (By similarity). Overexpression can recruit Ran GTPase to the nuclear periphery. Belongs to the TMEM201 family. 9606.ENSP00000344504,H1-0,194,"Histone H1.0, N-terminally processed; Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. The histones H1.0 are found in cells that are in terminal stages of differentiation or that have low rates of cell division." 9606.ENSP00000344544,IKZF3,509,"Zinc finger protein Aiolos; Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner. Belongs to the Ikaros C2H2-type zinc-finger protein family." 9606.ENSP00000344545,SCGB1C1,95,Secretoglobin family 1C member 1. 9606.ENSP00000344547,PTMA,111,"Prothymosin alpha, N-terminally processed; Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections; Belongs to the pro/parathymosin family." 9606.ENSP00000344562,CORO6,472,Coronin-6; Coronin 6. 9606.ENSP00000344563,CLEC12B,276,C-type lectin domain family 12 member B; Cell surface receptor that protects target cells against natural killer cell-mediated lysis. Modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases. 9606.ENSP00000344572,FIBP,364,Acidic fibroblast growth factor intracellular-binding protein; May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity). 9606.ENSP00000344577,APOL3,402,Apolipoprotein L3; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. 9606.ENSP00000344579,FSCB,825,Fibrous sheath CABYR-binding protein; May be involved in the later stages of fibrous sheath biogenesis and spermatozoa capacitation. Inhibits ROPN1 and ROPN1L SUMOylation. Binds calcium. 9606.ENSP00000344609,BTG3,296,Protein BTG3; Overexpression impairs serum-induced cell cycle progression from the G0/G1 to S phase. 9606.ENSP00000344635,CCNG1,295,Cyclin-G1; May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity). 9606.ENSP00000344648,SLC37A1,533,Glucose-6-phosphate exchanger SLC37A1; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6-phosphatase. May not play a role in homeostatic regulation of blood glucose levels. Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. 9606.ENSP00000344666,NF2,595,"Merlin; Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF [...] " 9606.ENSP00000344674,DHRS2,300,"Dehydrogenase/reductase SDR family member 2, mitochondrial; Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2- propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. Attenuates MDM2- mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21; Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000344724,TOX2,506,TOX high mobility group box family member 2; Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system. 9606.ENSP00000344729,FAM166A,317,Protein FAM166A; Family with sequence similarity 166 member A. 9606.ENSP00000344741,INSIG1,277,"Insulin-induced gene 1 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated ubiquitin- mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in metabolic control. May pla [...] " 9606.ENSP00000344749,CFAP100,611,Cilia- and flagella-associated protein 100; May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm. 9606.ENSP00000344758,ECM2,699,Extracellular matrix protein 2; Promotes matrix assembly and cell adhesiveness. 9606.ENSP00000344782,GFI1B,330,"Zinc finger protein Gfi-1b; Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA [...] " 9606.ENSP00000344786,NFASC,1240,"Neurofascin; Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions." 9606.ENSP00000344791,ZNF600,722,Zinc finger protein 600; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000344794,MOCS1,636,"Cyclic pyranopterin monophosphate synthase; Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)- 3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'- triphosphate to cPMP; In the C-terminal section; belongs to the MoaC family." 9606.ENSP00000344801,SLC24A2,661,"Sodium/potassium/calcium exchanger 2; Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)." 9606.ENSP00000344816,BSDC1,474,BSD domain containing 1. 9606.ENSP00000344819,CMTM5,223,CKLF like MARVEL transmembrane domain containing 5; Belongs to the chemokine-like factor family. 9606.ENSP00000344820,KCNK7,307,Potassium channel subfamily K member 7; Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. 9606.ENSP00000344828,ZNF678,525,Zinc finger protein 678; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000344829,QPCT,361,"Glutaminyl-peptide cyclotransferase; Responsible for the biosynthesis of pyroglutamyl peptides. Has a bias against acidic and tryptophan residues adjacent to the N- terminal glutaminyl residue and a lack of importance of chain length after the second residue. Also catalyzes N-terminal pyroglutamate formation. In vitro, catalyzes pyroglutamate formation of N-terminally truncated form of APP amyloid-beta peptides [Glu-3]-amyloid-beta. May be involved in the N-terminal pyroglutamate formation of several amyloid-related plaque-forming peptides." 9606.ENSP00000344831,SLC25A40,338,Solute carrier family 25 member 40. 9606.ENSP00000344855,FBXL14,418,F-box/LRR-repeat protein 14; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1. 9606.ENSP00000344860,IGFL3,125,Insulin growth factor-like family member 3; Potential ligand of the IGFLR1 cell membrane receptor. 9606.ENSP00000344865,C9orf153,95,Uncharacterized protein C9orf153; Chromosome 9 open reading frame 153. 9606.ENSP00000344866,FBXL5,691,"F-box/LRR-repeat protein 5; Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued." 9606.ENSP00000344903,MAFK,156,"Transcription factor MafK; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they act as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor ; Belongs to the bZIP family. Maf subfamily." 9606.ENSP00000344907,CSTL1,145,Cystatin like 1. 9606.ENSP00000344929,BPIFB6,453,BPI fold containing family B member 6; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. 9606.ENSP00000344937,DPY19L3,716,Probable C-mannosyltransferase DPY19L3; Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins; Belongs to the dpy-19 family. 9606.ENSP00000344942,UNC119B,251,Protein unc-119 homolog B; Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells. Belongs to the PDE6D/unc-119 family. 9606.ENSP00000344967,SPRY4,322,"Protein sprouty homolog 4; Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits Ras-independent, but not Ras-dependent, activation of RAF1." 9606.ENSP00000344989,DALRD3,543,DALR anticodon-binding domain-containing protein 3; DALR anticodon binding domain containing 3. 9606.ENSP00000344996,PALM3,673,"Paralemmin-3; ATP-binding protein, which may act as a adapter in the Toll- like receptor (TLR) signaling." 9606.ENSP00000345001,CRTC1,650,"CREB-regulated transcription coactivator 1; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved [...] " 9606.ENSP00000345008,FBLN5,448,"Fibulin-5; Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN. Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling. May act as an adapter that mediates the interaction between FBN1 and ELN. Belongs to the fibulin family." 9606.ENSP00000345023,GSTO2,243,Glutathione S-transferase omega-2; Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA). Belongs to the GST superfamily. Omega family. 9606.ENSP00000345024,GLI4,376,GLI family zinc finger 4. 9606.ENSP00000345029,FAM47A,791,Protein FAM47A; Family with sequence similarity 47 member A. 9606.ENSP00000345055,KCNQ5,951,"Potassium voltage-gated channel subfamily KQT member 5; Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current [...] " 9606.ENSP00000345064,PRICKLE1,831,"Prickle-like protein 1; Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor." 9606.ENSP00000345083,MAP2K3,347,Dual specificity mitogen-activated protein kinase kinase 3; Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. 9606.ENSP00000345096,IMPDH1,599,"Inosine-5'-monophosphate dehydrogenase 1; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors; Belongs to the IMPDH/GMPR family." 9606.ENSP00000345102,PEAK3,473,Protein PEAK3; Probable catalytically inactive kinase (Probable). Interacts with CRK-II and antagonizes CRK-II-signaling. Prevents the formation of CRK-II-dependent membrane ruffling and lamellipodia-like extensions ; Belongs to the protein kinase superfamily. 9606.ENSP00000345107,C2orf88,95,Small membrane A-kinase anchor protein; Binds to type I regulatory subunits of protein kinase A (PKA- RI) and may anchor/target them to the plasma membrane. Belongs to the small membrane AKAP family. 9606.ENSP00000345133,CDC42BPG,1551,"Serine/threonine-protein kinase MRCK gamma; May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity)." 9606.ENSP00000345147,NKX2-4,354,Homeobox protein Nkx-2.4; Probable transcription factor; Belongs to the NK-2 homeobox family. 9606.ENSP00000345151,RFPL4AL1,287,Ret finger protein like 4A like 1. 9606.ENSP00000345179,APOD,189,Apolipoprotein D; APOD occurs in the macromolecular complex with lecithin- cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts. 9606.ENSP00000345192,OLFM3,478,Noelin-3; Olfactomedin 3. 9606.ENSP00000345193,SHANK2,1261,"SH3 and multiple ankyrin repeat domains protein 2; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction." 9606.ENSP00000345195,UBQLN2,624,"Ubiquilin-2; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin- proteasome system (UPS), autophagy and the endoplasmic reticulum- associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome. Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form [...] " 9606.ENSP00000345206,RBPJ,500,"Recombining binding protein suppressor of hairless; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling [...] " 9606.ENSP00000345216,USP54,1684,Inactive ubiquitin carboxyl-terminal hydrolase 54; Has no peptidase activity; Belongs to the peptidase C19 family. 9606.ENSP00000345229,DNER,737,Delta and Notch-like epidermal growth factor-related receptor; Activator of the NOTCH1 pathway. May mediate neuron-glia interaction during astrocytogenesis (By similarity). 9606.ENSP00000345243,SIGLEC10,697,"Sialic acid-binding Ig-like lectin 10; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid (By similarity). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Involved in negative re [...] " 9606.ENSP00000345259,EPB41,864,Protein 4.1; Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase. 9606.ENSP00000345268,ZDHHC3,333,"Palmitoyltransferase ZDHHC3; Palmitoyltransferase with broad specificity. Palmitoylates GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3), which regulates synaptic clustering and/or cell surface stability (By similarity). Palmitoylates glutamate receptors GRIA1 and GRIA2, which leads to their retention in Golgi. May also palmitoylate DLG4, DNAJC5 and SNAP25 (By similarity)." 9606.ENSP00000345270,MGAT3,533,"Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase; It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains, called bisecting N-acetylglucosamine (GlcNAc). It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. The addition of this bisecting GlcNAc residue alters not only the composition, but also the conform [...] " 9606.ENSP00000345282,GPT2,523,Alanine aminotransferase 2; Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily. 9606.ENSP00000345292,NDRG3,375,Protein NDRG3; NDRG family member 3; Belongs to the NDRG family. 9606.ENSP00000345295,SH2D4B,357,SH2 domain containing 4B. 9606.ENSP00000345333,ZNF69,149,Zinc finger protein 69. 9606.ENSP00000345341,PTGES2,377,Prostaglandin E synthase 2 truncated form; Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2). 9606.ENSP00000345344,CTSL,333,Cathepsin L1 heavy chain; Thiol protease important for the overall degradation of proteins in lysosomes (Probable). Involved in the solubilization of cross-linked TG/thyroglobulin and in the subsequent release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (By similarity). 9606.ENSP00000345347,HMGB1,215,"High mobility group protein B1; Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chromatin remodeling, V(D)J recombination, DNA repair and genome stability. Proposed to be an universal biosensor for nucleic acids. Promotes host inflammatory response to sterile and infectious signals and is involved in the coordination and integration of innate and adaptive immune responses. In the cytoplasm functio [...] " 9606.ENSP00000345359,PODXL2,605,"Podocalyxin-like protein 2; Acts as a ligand for vascular selectins. Mediates rapid rolling of leukocytes over vascular surfaces through high affinity divalent cation-dependent interactions with E-, P- and L-selectins." 9606.ENSP00000345361,ARPC5L,153,Actin-related protein 2/3 complex subunit 5-like protein; May function as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the ARPC5 family. 9606.ENSP00000345374,RTP5,572,Receptor transporter protein 5. 9606.ENSP00000345395,PAPLN,1251,"Papilin, proteoglycan like sulfated glycoprotein; Belongs to the papilin family." 9606.ENSP00000345405,SPRED3,410,"Sprouty-related, EVH1 domain-containing protein 3; Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase." 9606.ENSP00000345412,CPSF7,514,"Cleavage and polyadenylation specificity factor subunit 7; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The [...] " 9606.ENSP00000345420,ASCL4,173,Achaete-scute homolog 4; Could be a transcriptional regulator involved in skin development. 9606.ENSP00000345436,CASKIN1,1431,Caskin-1; May link the scaffolding protein CASK to downstream intracellular effectors. 9606.ENSP00000345445,SAMM50,469,Sorting and assembly machinery component 50 homolog; Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes. Required for the assembly of TOMM40 into the TOM complex. 9606.ENSP00000345464,NHLRC1,395,"E3 ubiquitin-protein ligase NHLRC1; E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin- dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen [...] " 9606.ENSP00000345468,TMEM215,235,Transmembrane protein 215. 9606.ENSP00000345470,CCDC38,563,Coiled-coil domain containing 38. 9606.ENSP00000345479,ZNF587,575,Zinc finger protein 587; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000345491,PCDHB13,798,Protocadherin beta-13; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000345492,SH2B3,575,"SH2B adapter protein 3; Links T-cell receptor activation signal to phospholipase C- gamma-1, GRB2 and phosphatidylinositol 3-kinase." 9606.ENSP00000345494,PLSCR1,318,"Phospholipid scramblase 1; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system." 9606.ENSP00000345502,PDE4D,809,"cAMP-specific 3',5'-cyclic phosphodiesterase 4D; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes." 9606.ENSP00000345528,SLC35F6,371,Solute carrier family 35 member F6; Involved in the maintenance of mitochondrial membrane potential in pancreatic ductal adenocarcinoma (PDAC) cells. Promotes pancreatic ductal adenocarcinoma (PDAC) cell growth. May play a role as a nucleotide-sugar transporter. 9606.ENSP00000345555,ENO4,625,Enolase 4; May be required for sperm motility and function. 9606.ENSP00000345571,E2F1,437,"Transcription factor E2F1; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA bindi [...] " 9606.ENSP00000345575,DNAJB12,409,"DnaJ homolog subfamily B member 12; Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum- associated degradation (ERAD) pathway. Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers. While stabilization of na [...] " 9606.ENSP00000345629,MAP3K15,1313,Mitogen-activated protein kinase kinase kinase 15; May function in a signal transduction pathway that is activated by various cell stresses and leads to apoptosis. 9606.ENSP00000345633,ZCCHC13,166,Zinc finger CCHC-type containing 13. 9606.ENSP00000345656,VAPA,294,"Vesicle-associated membrane protein-associated protein A; Binds to OSBPL3, which mediates recruitment of VAPA to plasma membrane sites. The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface. With OSBPL3, may regulate ER morphology. May play a role in vesicle trafficking." 9606.ENSP00000345659,CA7,264,Carbonic anhydrase 7; Reversible hydration of carbon dioxide; Belongs to the alpha-carbonic anhydrase family. 9606.ENSP00000345667,ILDR1,546,Immunoglobulin-like domain-containing receptor 1; Putative membrane receptor. 9606.ENSP00000345672,CTSB,339,Cathepsin B heavy chain; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Cleaves matrix extracellular phosphoglycoprotein MEPE. Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (By similarity). Has also been implicated in tumor invasion and metastasis. Belongs to the peptidase C1 family. 9606.ENSP00000345681,GATA2,480,Endothelial transcription factor GATA-2; Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'- AGATAG-3'. 9606.ENSP00000345702,NFYA,347,"Nuclear transcription factor Y subunit alpha; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. NF-YA positively regulates the transcription of the core clock component ARNTL/BMAL1." 9606.ENSP00000345708,KCNJ11,390,"ATP-sensitive inward rectifier potassium channel 11; This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit [...] " 9606.ENSP00000345716,NKAPL,402,NKAP-like protein; Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis. 9606.ENSP00000345719,TOR1A,332,"Torsin-1A; Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular traffickin [...] " 9606.ENSP00000345728,ATP7A,1500,"Copper-transporting ATPase 1; May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily." 9606.ENSP00000345731,DLG1,926,"Disks large homolog 1; Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane. B [...] " 9606.ENSP00000345751,SCNN1B,640,"Amiloride-sensitive sodium channel subunit beta; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception; Belongs to the amiloride-sensit [...] " 9606.ENSP00000345752,MTMR2,643,"Myotubularin-related protein 2; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3- phosphate and phosphatidylinositol 3,5-bisphosphate. Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5- trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity). Belongs to the protein-tyrosine phosphatase family. Non- receptor cla [...] " 9606.ENSP00000345767,ANKRD6,727,"Ankyrin repeat domain-containing protein 6; Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals." 9606.ENSP00000345772,TEAD3,435,"Transcriptional enhancer factor TEF-5; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] " 9606.ENSP00000345773,BEND7,468,BEN domain containing 7. 9606.ENSP00000345774,ALDH3A2,508,Aldehyde dehydrogenase family 3 member A2; Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. 9606.ENSP00000345785,FZD9,591,"Frizzled-9; Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta- catenin canonical signaling pathway by negatively [...] " 9606.ENSP00000345793,ZC3H7B,977,"Zinc finger CCCH domain-containing protein 7B; May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 'ATA(A/T)' motif in the apical loop." 9606.ENSP00000345797,KRBOX4,171,KRAB box domain containing 4. 9606.ENSP00000345808,ARHGAP12,846,Rho GTPase-activating protein 12; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000345809,ZNF197,1029,Zinc finger protein 197; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000345824,TSPOAP1,1857,Peripheral-type benzodiazepine receptor-associated protein 1; TSPO associated protein 1; Belongs to the RIMBP family. 9606.ENSP00000345826,PMEPA1,287,"Protein TMEPAI; Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may [...] " 9606.ENSP00000345837,DPY30,99,"Protein dpy-30 homolog; As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys- 4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport. Belongs to the dpy-30 family." 9606.ENSP00000345848,ANP32B,251,"Acidic leucine-rich nuclear phosphoprotein 32 family member B; Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome; Belongs to the ANP32 family." 9606.ENSP00000345849,SPAM1,511,Hyaluronidase PH-20; Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid; Belongs to the glycosyl hydrolase 56 family. 9606.ENSP00000345853,DUSP9,384,Dual specificity protein phosphatase 9; Inactivates MAP kinases. Has a specificity for the ERK family; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily. 9606.ENSP00000345868,GJB4,266,"Gap junction beta-4 protein; Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity); Belongs to the connexin family. Beta-type (group I) subfamily." 9606.ENSP00000345873,SLC26A3,764,"Chloride anion exchanger; Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation." 9606.ENSP00000345895,NUP50,468,"Nuclear pore complex protein Nup50; Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin- alpha:beta-cargo complex and importin recycling. Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity)." 9606.ENSP00000345917,LYAR,379,"Cell growth-regulating nucleolar protein; Plays a role in the maintenance of the appropriate processing of 47S/45S pre-rRNA to 32S/30S pre-rRNAs and their subsequent processing to produce 18S and 28S rRNAs. Also acts at the level of transcription regulation. Along with PRMT5, binds the gamma-globin (HBG1/HBG2) promoter and represses its expression. In neuroblastoma cells, may also repress the expression of oxidative stress genes, including CHAC1, HMOX1, SLC7A11, ULBP1 and SNORD41 that encodes a small nucleolar RNA. Preferentially binds to a DNA motif containing 5'-GGTTAT-3'. Negatively [...] " 9606.ENSP00000345957,RPS21,83,Ribosomal protein S21; Belongs to the eukaryotic ribosomal protein eS21 family. 9606.ENSP00000345972,FYB2,728,FYN-binding protein 2; Adapter protein that plays a role in T-cell receptor (TCR)- mediated activation of signaling pathways. Required for T-cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation. 9606.ENSP00000345984,TRAF3IP2,574,Adapter protein CIKS; Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress- activated protein kinase (SAPK)/JNK. 9606.ENSP00000345985,LRFN2,789,Leucine-rich repeat and fibronectin type-III domain-containing protein 2; Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery (By similarity). 9606.ENSP00000345988,PLCH1,1693,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes." 9606.ENSP00000345997,DMPK,639,Myotonin-protein kinase; Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeo [...] 9606.ENSP00000346001,RPL3,403,60S ribosomal protein L3; The L3 protein is a component of the large subunit of cytoplasmic ribosomes. 9606.ENSP00000346012,RPL36AL,106,Ribosomal protein L36a like; Belongs to the eukaryotic ribosomal protein eL42 family. 9606.ENSP00000346015,RPL27A,148,Ribosomal protein L27a; Belongs to the universal ribosomal protein uL15 family. 9606.ENSP00000346027,RPL21,160,60S ribosomal protein L21; Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL21 family. 9606.ENSP00000346032,ANXA2,357,"Annexin A2; Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9 ; Belongs to the annexin family." 9606.ENSP00000346037,RPLP1,114,60S acidic ribosomal protein P1; Plays an important role in the elongation step of protein synthesis; Belongs to the eukaryotic ribosomal protein P1/P2 family. 9606.ENSP00000346050,RPS3A,264,40S ribosomal protein S3a; May play a role during erythropoiesis through regulation of transcription factor DDIT3; Belongs to the eukaryotic ribosomal protein eS1 family. 9606.ENSP00000346065,TDRD6,2096,"Tudor domain-containing protein 6; Tudor domain-containing protein involved in germ cell development, more specifically the formation of chromatoid body (during spermiogenesis), Balbiani body (during oogenesis), germ plasm (upon fertilization), and for proper miRNA expression and spliceosome maturation (By similarity). Essential for RNA-dependent helicase UPF1 localization to chromatoid body, for UPF1-UPF2 and UPF1-DDX4 interactions which are required for mRNA degradation, using the extended 3' UTR-triggered nonsense-mediated mRNA decay (NMD) pathway. Involved in spliceosome maturation [...] " 9606.ENSP00000346080,RPL22L1,122,Ribosomal protein L22 like 1; Belongs to the eukaryotic ribosomal protein eL22 family. 9606.ENSP00000346088,RPL22,128,Ribosomal protein L22; Belongs to the eukaryotic ribosomal protein eL22 family. 9606.ENSP00000346103,GPX4,197,"Phospholipid hydroperoxide glutathione peroxidase; Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce fatty acid hydroperoxide, cholesterol hydroperoxide and thymine hydroperoxide (By similarity). Plays a key role in protecting cells from oxidative damage by preventing membrane lipid peroxidation (By similarity). Required to prevent cells from ferroptosis, a non-apoptotic cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species. Th [...] " 9606.ENSP00000346112,SLC12A6,1150,Solute carrier family 12 member 6; Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. 9606.ENSP00000346120,DDX21,783,"Nucleolar RNA helicase 2; RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II). Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs. In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre- ribosomal complexes. I [...] " 9606.ENSP00000346127,PLEKHB1,243,Pleckstrin homology domain containing B1. 9606.ENSP00000346130,SVIP,77,Small VCP interacting protein; Belongs to the SVIP family. 9606.ENSP00000346139,TBC1D20,403,TBC1 domain family member 20; GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude. 9606.ENSP00000346148,PRKAA1,574,"5'-AMP-activated protein kinase catalytic subunit alpha-1; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts a [...] " 9606.ENSP00000346151,MAGI2,1455,"Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2; Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth." 9606.ENSP00000346155,UCKL1,548,Uridine-cytidine kinase-like 1; May contribute to UTP accumulation needed for blast transformation and proliferation; Belongs to the uridine kinase family. 9606.ENSP00000346158,REG4,158,Regenerating islet-derived protein 4; Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment. May be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium. 9606.ENSP00000346160,DUSP19,217,Dual specificity protein phosphatase 19; Has a dual specificity toward Ser/Thr and Tyr-containing proteins. 9606.ENSP00000346173,ETFB,346,"Electron transfer flavoprotein subunit beta; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF- ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism. ETFB binds an AMP molecule that probably has a purely structural role." 9606.ENSP00000346175,SETDB2,719,"Histone-lysine N-methyltransferase SETDB2; Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere- associated repeats. Plays a role in chromosome condensation and segregation during mitosis." 9606.ENSP00000346196,NDUFV3,473,"NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I." 9606.ENSP00000346206,TAP1,808,"Antigen peptide transporter 1; Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation [...] " 9606.ENSP00000346240,FBXO2,296,F-box only protein 2; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotransl [...] 9606.ENSP00000346251,BPIFA1,256,"BPI fold-containing family A member 1; Lipid-binding protein which shows high specificity for the surfactant phospholipid dipalmitoylphosphatidylcholine (DPPC). Plays a role in the innate immune responses of the upper airways. Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae. Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid ho [...] " 9606.ENSP00000346255,PPTC7,304,"Protein phosphatase PTC7 homolog; Protein phosphatase which positively regulates biosynthesis of the ubiquinone, coenzyme Q. Dephosphorylates the ubiquinone biosynthesis protein COQ7 which is likely to lead to its activation." 9606.ENSP00000346265,SYT5,386,Synaptotagmin-5; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface (By similarity). 9606.ENSP00000346275,PRAMEF20,475,PRAME family member 20; Belongs to the PRAME family. 9606.ENSP00000346283,HRCT1,115,Histidine rich carboxyl terminus 1. 9606.ENSP00000346298,SLC6A20,592,"Sodium- and chloride-dependent transporter XTRP3; Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine." 9606.ENSP00000346300,CRKL,303,Crk-like protein; May mediate the transduction of intracellular signals. 9606.ENSP00000346335,NRDE2,1164,"Nuclear exosome regulator NRDE2; Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation. Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation. Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome. By preventing the degradation of RNAs in the nucleus, [...] " 9606.ENSP00000346340,COPS8,209,"COP9 signalosome complex subunit 8; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN- [...] " 9606.ENSP00000346342,RFPL1,317,"Ret finger protein-like 1; Negatively regulates the G2-M phase transition, possibly by promoting cyclin B1/CCNB1 and CDK1 proteasomal degradation and thereby preventing their accumulation during interphase." 9606.ENSP00000346348,ZNF774,483,Zinc finger protein 774; May be involved in transcriptional regulation. 9606.ENSP00000346359,KIAA0586,1644,Protein TALPID3; Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation. Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity). Belongs to the TALPID3 family. 9606.ENSP00000346378,APBB3,493,Amyloid-beta A4 precursor protein-binding family B member 3; May modulate the internalization of amyloid-beta precursor protein. 9606.ENSP00000346404,FAM78B,261,Protein FAM78B; Family with sequence similarity 78 member B; Belongs to the FAM78 family. 9606.ENSP00000346414,LRRIQ3,624,Leucine rich repeats and IQ motif containing 3. 9606.ENSP00000346437,ATG7,703,Ubiquitin-like modifier-activating enzyme ATG7; E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria [...] 9606.ENSP00000346442,LRMP,499,Processed lymphoid-restricted membrane protein; Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion. 9606.ENSP00000346453,IPO4,1081,"Importin-4; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis rel [...] " 9606.ENSP00000346464,VPS72,375,"Vacuolar protein sorting-associated protein 72 homolog; Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling." 9606.ENSP00000346466,WDR91,747,"WD repeat-containing protein 91; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3- phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport. It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome. May play a role in meiosis (By similarity). Belongs to [...] " 9606.ENSP00000346478,ADAMTSL2,951,ADAMTS-like protein 2; ADAMTS like 2. 9606.ENSP00000346483,DDRGK1,314,"DDRGK domain-containing protein 1; Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription. May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B. May also play a role in the cellular response to endoplasmic reticulum stress (By similarity). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasoma [...] " 9606.ENSP00000346484,MAK,648,Serine/threonine-protein kinase MAK; Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. 9606.ENSP00000346508,PDGFA,211,"Platelet-derived growth factor subunit A; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by t [...] " 9606.ENSP00000346509,H2AB2,115,"Histone H2A-Bbd type 2/3; Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associ [...] " 9606.ENSP00000346534,SCN8A,1980,"Sodium channel protein type 8 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily." 9606.ENSP00000346536,KRTAP23-1,65,"Keratin-associated protein 23-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000346537,SMOC2,457,"SPARC-related modular calcium-binding protein 2; Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis." 9606.ENSP00000346550,ANXA6,673,Annexin A6; May associate with CD21. May regulate the release of Ca(2+) from intracellular stores; Belongs to the annexin family. 9606.ENSP00000346560,FILIP1L,1135,"Filamin A-interacting protein 1-like; Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor-associated vasculature." 9606.ENSP00000346577,AK5,562,"Adenylate kinase isoenzyme 5; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity." 9606.ENSP00000346599,STYX,223,"Serine/threonine/tyrosine-interacting protein; Catalytically inactive phosphatase. Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2). By binding to the F-box of FBXW7, prevents the assembly of FBXW7 into the SCF E3 ubiquitin-protein ligase complex, and thereby inhibits degradation of its substrates. Plays a role in spermatogenesis (By similarity)." 9606.ENSP00000346603,ZBTB45,511,"Zinc finger and BTB domain-containing protein 45; May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000346627,TYW5,315,tRNA wybutosine-synthesizing protein 5; tRNA hydroxylase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the hydroxylation of 7-(a- amino-a-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW*). OHyW* being further transformed into hydroxywybutosine (OHyW) by LCMT2/TYW4. OHyW is a derivative of wybutosine found in higher eukaryotes; Belongs to the TYW5 family. 9606.ENSP00000346634,THRAP3,955,Thyroid hormone receptor-associated protein 3; Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin- D1/CCND1 mRNA [...] 9606.ENSP00000346635,ERO1B,467,"ERO1-like protein beta; Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive o [...] " 9606.ENSP00000346643,HKDC1,917,"Hexokinase HKDC1; Catalyzes the phosphorylation of hexose to hexose 6- phosphate, although at very low level compared to other hexokinases. Has low glucose phosphorylating activity compared to other hexokinases. Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity)." 9606.ENSP00000346659,OCA2,838,"P protein; Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. Belongs to the CitM (TC 2.A.11) transporter family." 9606.ENSP00000346667,WNK3,1800,"Serine/threonine-protein kinase WNK3; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Phosphorylates WNK4. Regulates the phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway. Inhibits the activity of KCNJ1 by decreasing its expression at the ce [...] " 9606.ENSP00000346671,FYN,537,"Tyrosine-protein kinase Fyn; Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motility through [...] " 9606.ENSP00000346693,ELOVL2,296,"Elongation of very long chain fatty acids protein 2; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA), acting specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. May participate in the productio [...] " 9606.ENSP00000346694,HNRNPA2B1,353,"Heterogeneous nuclear ribonucleoproteins A2/B1; Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs. Forms hnRNP particles with at least 20 other different hnRNP and he [...] " 9606.ENSP00000346697,BMF,184,Bcl-2-modifying factor; May play a role in apoptosis. Isoform 1 seems to be the main initiator. 9606.ENSP00000346725,PES1,588,"Pescadillo homolog; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. Belongs to the pescadillo family." 9606.ENSP00000346729,ZNF589,364,Zinc finger protein 589; May play a role in hematopoietic stem/progenitor cell differentiation. May play a role as a DNA binding-dependent transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000346733,ACAP3,834,"Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3; GTPase-activating protein for the ADP ribosylation factor family." 9606.ENSP00000346762,SND1,910,"Staphylococcal nuclease domain-containing protein 1; Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs. As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition. Functions as a bridging factor between STAT6 and the basal transcription factor. Plays a role in PIM1 regulation of MYB activity. Functions as a transcriptional coactivator for STAT5 (By similarity)." 9606.ENSP00000346768,UGT1A9,530,UDP-glucuronosyltransferase 1-9; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. 9606.ENSP00000346802,PCDHB11,797,Protocadherin beta-11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000346805,CRYBA4,196,Beta-crystallin A4; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000346809,PGAP1,922,GPI inositol-deacylase; Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI- anchored proteins from the endoplasmic reticulum to the Golgi (By similarity). 9606.ENSP00000346827,ALDH9A1,518,"4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processed; Converts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low efficiency." 9606.ENSP00000346829,WLS,543,"Protein wntless homolog; Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity)." 9606.ENSP00000346839,FN1,2477,"Fibronectin; Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts." 9606.ENSP00000346874,FAR1,515,"Fatty acyl-CoA reductase 1; Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols. In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity)." 9606.ENSP00000346879,NKX2-1,401,"Homeobox protein Nkx-2.1; Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptio [...] " 9606.ENSP00000346886,GABPA,454,GA-binding protein alpha chain; Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene; Belongs to the ETS family. 9606.ENSP00000346890,NRDC,1219,Nardilysin; Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs; Belongs to the peptidase M16 family. 9606.ENSP00000346892,SERF1A,110,"Small EDRK-rich factor 1; Positive regulator of amyloid protein aggregation and proteotoxicity. Induces conformational changes in amyloid proteins, such as APP, HTT, and SNCA, driving them into compact formations preceding the formation of aggregates." 9606.ENSP00000346901,FMO1,532,Dimethylaniline monooxygenase [N-oxide-forming] 1; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. Form I catalyzes the N-oxygenation of secondary and tertiary amines. 9606.ENSP00000346916,TRIM6-TRIM34,842,Tripartite motif-containing protein 34; May function as antiviral protein and may contribute to the defense against retroviral infections; Belongs to the TRIM/RBCC family. 9606.ENSP00000346927,NAA80,308,"N-alpha-acetyltransferase 80; N-alpha-acetyltransferase that specifically mediates the acetylation of the acidic amino terminus of processed forms of beta- and gamma-actin (ACTB and ACTG, respectively). N-terminal acetylation of processed beta- and gamma- actin regulates actin filament depolymerization and elongation. In vivo, preferentially displays N-terminal acetyltransferase activity towards acid N-terminal sequences starting with Asp-Asp-Asp and Glu-Glu-Glu. In vitro, shows high activity towards Met-Asp-Glu-Leu and Met-Asp-Asp-Asp. May act as a tumor suppressor." 9606.ENSP00000346931,C6orf120,191,"UPF0669 protein C6orf120; May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes." 9606.ENSP00000346954,TMEM205,189,"Transmembrane protein 205; In cancer cells, plays a role in resistance to the chemotherapeutic agent cisplatin." 9606.ENSP00000346955,SLC25A26,274,"S-adenosylmethionine mitochondrial carrier protein; Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria." 9606.ENSP00000346959,SLC38A6,521,"Probable sodium-coupled neutral amino acid transporter 6; Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate." 9606.ENSP00000346964,EGFLAM,1017,Pikachurin; Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity). 9606.ENSP00000346981,TMEM207,146,Transmembrane protein 207. 9606.ENSP00000346986,WAC,647,"WW domain-containing adapter protein with coiled-coil; Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription. Regulates the cell-cycle checkpoint activation in response to DNA damage. Positive regulator of amino acid starvation-induced autophagy. Also acts as a negative regulator of basal autophagy. Positively regulates MTOR activity by promot [...] " 9606.ENSP00000346990,SCARA5,495,"Scavenger receptor class A member 5; Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non- transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the de [...] " 9606.ENSP00000346997,SUV39H2,410,"Histone-lysine N-methyltransferase SUV39H2; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric re [...] " 9606.ENSP00000347003,OR5K4,321,Olfactory receptor 5K4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000347005,LUC7L2,392,Putative RNA-binding protein Luc7-like 2; May bind to RNA via its Arg/Ser-rich domain. 9606.ENSP00000347032,PIP4K2C,421,"Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma; May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum." 9606.ENSP00000347038,PLSCR4,329,"Phospholipid scramblase 4; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system." 9606.ENSP00000347041,FMOD,376,Fibromodulin; Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity); Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily. 9606.ENSP00000347043,ZNF649,505,Zinc finger protein 649; Transcriptional repressor. Regulator of transcriptional factor complexes and may suppress SRE and AP-1 transcription activities mediated by growth factor signaling pathways. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000347046,PDE5A,875,"cGMP-specific 3',5'-cyclic phosphodiesterase; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP. Specifically regulates nitric-oxide- generated cGMP." 9606.ENSP00000347055,MYL4,197,Myosin light chain 4; Regulatory light chain of myosin. Does not bind calcium. 9606.ENSP00000347088,LARGE1,756,"LARGE xylosyl- and glucuronyltransferase 1; Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongat [...] " 9606.ENSP00000347119,H2BW2,154,"Histone H2B type F-M; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000347134,NET1,596,Neuroepithelial cell-transforming gene 1 protein; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway Stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death. 9606.ENSP00000347140,ASGR2,311,"Asialoglycoprotein receptor 2; Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N- acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface." 9606.ENSP00000347152,ATRNL1,1379,Attractin-like protein 1; May play a role in melanocortin signaling pathways that regulate energy homeostasis. 9606.ENSP00000347168,H4C11,103,H4 clustered histone 11. 9606.ENSP00000347170,NEIL1,390,"Endonuclease 8-like 1; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and 5'-phosphates. Has DNA glycosylase/ly [...] " 9606.ENSP00000347184,HTT,3142,"Huntingtin, myristoylated N-terminal fragment; [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function." 9606.ENSP00000347188,KCTD6,237,"BTB/POZ domain-containing protein KCTD6; Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastom [...] " 9606.ENSP00000347193,KLHL28,585,Kelch-like protein 28; Kelch like family member 28. 9606.ENSP00000347195,STIMATE,294,"Store-operated calcium entry regulator STIMATE; Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER. SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts by interacting with STIM1, promoting STIM1 conformational switch. Involved in STIM1 relocalization to ER-PM junctions. Contributes to the maintenance and reorganization of store-dependent ER-PM junctions." 9606.ENSP00000347197,C5AR1,350,"C5a anaphylatoxin chemotactic receptor 1; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. The ligand interacts with at least two sites on the receptor: a high- affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events. Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production." 9606.ENSP00000347198,SRGAP1,1085,"SLIT-ROBO Rho GTPase-activating protein 1; GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42." 9606.ENSP00000347206,GPAA1,621,Glycosylphosphatidylinositol anchor attachment 1 protein; Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate. 9606.ENSP00000347213,ENTPD2,495,"Ectonucleoside triphosphate diphosphohydrolase 2; In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Hydrolyzes ADP only to a marginal extent. The order of activity with different substrates is ATP > GTP > CTP = ITP > UTP >> ADP = UDP." 9606.ENSP00000347224,GPBP1L1,474,Vasculin-like protein 1; Possible transcription factor. 9606.ENSP00000347232,BLM,1417,"Bloom syndrome protein; ATP-dependent DNA helicase that unwinds single- and double- stranded DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single- stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction." 9606.ENSP00000347244,ITSN2,1697,Intersectin-2; Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes. 9606.ENSP00000347277,MRPL52,123,Mitochondrial ribosomal protein L52. 9606.ENSP00000347322,C6orf89,354,Bombesin receptor-activated protein C6orf89; Exhibits histone deacetylase (HDAC) enhancer properties. May play a role in cell cycle progression and wound repair of bronchial epithelial cells. 9606.ENSP00000347324,MSRB3,192,Methionine-R-sulfoxide reductase B3; Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing. 9606.ENSP00000347338,ZNF607,696,Zinc finger protein 607; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000347345,POLR3H,204,"DNA-directed RNA polymerase III subunit RPC8; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Ep [...] " 9606.ENSP00000347358,MAGEA11,429,Melanoma-associated antigen 11; Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression. 9606.ENSP00000347379,OCLN,522,Occludin; May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions. 9606.ENSP00000347408,AP3M1,418,"AP-3 complex subunit mu-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals." 9606.ENSP00000347409,KEL,732,"Kell blood group glycoprotein; Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3." 9606.ENSP00000347418,OR5H2,314,Olfactory receptor 5H2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000347427,MINK1,1332,"Misshapen-like kinase 1; Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal transduction to control neuronal structure and AMPA receptor trafficking. Required for normal synaptic density, dendrite complexity, as well as surface AMPA receptor expression in hippocampal neurons. Can activate the JNK and MAPK14/p38 pathways and mediates stimulation of the stress-activated protein kinase MAPK14/p38 MAPK downstream of the Raf/ERK pathway. Phosphorylates: TANC1 upon stimulation by RAP2A, MBP and SMAD1. Has an essential function in negative selection [...] " 9606.ENSP00000347428,OR2L5,312,Olfactory receptor 2L5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000347433,APCDD1,514,Protein APCDD1; Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta- catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis; Belongs to the APCDD1 family. 9606.ENSP00000347444,TDRD7,1098,"Tudor domain-containing protein 7; Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis; Belongs to the TDRD7 family." 9606.ENSP00000347451,LINGO1,620,Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1; Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors. Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination. Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity). 9606.ENSP00000347454,ANO1,986,Anoctamin-1; Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. Belongs to the anoctamin family. 9606.ENSP00000347457,DNM3,869,"Dynamin-3; Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity); Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family." 9606.ENSP00000347464,GIT2,759,ARF GTPase-activating protein GIT2; GTPase-activating protein for the ADP ribosylation factor family. 9606.ENSP00000347484,THSD4,1018,"Thrombospondin type-1 domain-containing protein 4; Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity)." 9606.ENSP00000347486,MORN3,240,MORN repeat containing 3. 9606.ENSP00000347495,WARS1,471,"Tryptophan--tRNA ligase, cytoplasmic; Isoform 1, isoform 2 and T1-TrpRS have aminoacylation activity while T2-TrpRS lacks it. Isoform 2, T1-TrpRS and T2-TrpRS possess angiostatic activity whereas isoform 1 lacks it. T2-TrpRS inhibits fluid shear stress-activated responses of endothelial cells. Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress- responsive gene expression." 9606.ENSP00000347498,ZFYVE19,471,"Abscission/NoCut checkpoint regulator; Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission." 9606.ENSP00000347507,MYH7,1935,"Myosin-7; Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle." 9606.ENSP00000347532,SHTN1,631,"Shootin-1; Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1- dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Pl [...] " 9606.ENSP00000347538,SYT17,474,Synaptotagmin-17; Plays a role in dendrite formation by melanocytes ; Belongs to the synaptotagmin family. 9606.ENSP00000347548,RNF220,566,"E3 ubiquitin-protein ligase RNF220; E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7- mediated deubiquitination of CTNNB1 promoting Wnt signaling." 9606.ENSP00000347583,MFSD12,480,Major facilitator superfamily domain containing 12. 9606.ENSP00000347586,CCDC69,296,Coiled-coil domain-containing protein 69; May act as a scaffold to regulate the recruitment and assembly of spindle midzone components. Required for the localization of AURKB and PLK1 to the spindle midzone. 9606.ENSP00000347591,GFRA1,465,GDNF family receptor alpha-1; Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity). 9606.ENSP00000347602,ARID4A,1257,"AT-rich interactive domain-containing protein 4A; DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex. Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it [...] " 9606.ENSP00000347626,NUDCD3,361,NudC domain containing 3. 9606.ENSP00000347635,KRTAP13-1,172,"Keratin-associated protein 13-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000347646,SOX12,315,Transcription factor SOX-12; Binds to the sequence 5'-AACAAT-3'. 9606.ENSP00000347648,ZNF512,567,Zinc finger protein 512; May be involved in transcriptional regulation. 9606.ENSP00000347649,P3H4,437,"Endoplasmic reticulum protein SC65; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly; Belongs to the leprecan family." 9606.ENSP00000347655,GRK6,576,"G protein-coupled receptor kinase 6; Specifically phosphorylates the activated forms of G protein- coupled receptors. Such receptor phosphorylation initiates beta- arrestin-mediated receptor desensitization, internalization, and signaling events leading to their desensitization. Seems to be involved in the desensitization of D2-like dopamine receptors in striatum and chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (By similarity). Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor: LRP6 during Wnt signaling (in vitro)." 9606.ENSP00000347672,VANGL1,524,VANGL planar cell polarity protein 1. 9606.ENSP00000347684,LMX1B,406,LIM homeobox transcription factor 1-beta; Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. 9606.ENSP00000347689,PDE4C-2,712,"cAMP-specific 3',5'-cyclic phosphodiesterase 4C; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily." 9606.ENSP00000347710,OPHN1,802,"Oligophrenin-1; Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity)." 9606.ENSP00000347712,C2CD4A,369,C2 calcium-dependent domain-containing protein 4A; May be involved in inflammatory process. May regulate cell architecture and adhesion; Belongs to the C2CD4 family. 9606.ENSP00000347714,FCAR,287,Immunoglobulin alpha Fc receptor; Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production. 9606.ENSP00000347716,DPF1,414,"Zinc finger protein neuro-d4; May have an important role in developing neurons by participating in regulation of cell survival, possibly as a neurospecific transcription factor. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF [...] " 9606.ENSP00000347717,DHCR7,475,7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC); Belongs to the ERG4/ERG24 family. 9606.ENSP00000347719,TBCD,1192,"Tubulin-specific chaperone D; Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP- bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes ep [...] " 9606.ENSP00000347721,SPNS3,512,Protein spinster homolog 3; Sphingolipid transporter. 9606.ENSP00000347730,ZNF536,1300,Zinc finger protein 536; May be involved in transcriptional regulation. Recognizes and binds 2 copies of the core DNA sequence 5'-CCCCCA-3'; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000347742,PDZD3,505,Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions. 9606.ENSP00000347754,HTR3A,516,"5-hydroxytryptamine receptor 3A; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand- gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel." 9606.ENSP00000347755,ZNF140,457,Zinc finger protein 140; May be involved in transcriptional regulation as a repressor; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000347767,NEK5,708,Serine/threonine-protein kinase Nek5; NIMA related kinase 5. 9606.ENSP00000347778,SLC26A8,970,"Testis anion transporter 1; Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a molecular complex involved in the regulation of chloride and bicarbonate ions fluxes [...] " 9606.ENSP00000347792,SYNJ2,1496,Synaptojanin-2; Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis; Belongs to the synaptojanin family. 9606.ENSP00000347802,ANKRD35,1001,Ankyrin repeat domain 35. 9606.ENSP00000347810,DEFB107B,70,Defensin beta 107B. 9606.ENSP00000347821,MORC4,937,MORC family CW-type zinc finger 4. 9606.ENSP00000347823,KRT39,491,"Keratin, type I cytoskeletal 39; May play a role in late hair differentiation." 9606.ENSP00000347834,FBXL3,428,F-box/LRR-repeat protein 3; Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation. The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2. Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex. 9606.ENSP00000347836,UBE2H,183,"Ubiquitin-conjugating enzyme E2 H; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 ubiquitin-protein ligase complex. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A." 9606.ENSP00000347845,TASOR,1609,"Protein TASOR; Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2. Also represses L1 retrotransposons in collaboration with MORC2 and, probably, SETDB1, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally act [...] " 9606.ENSP00000347852,SORBS2,1200,"Sorbin and SH3 domain-containing protein 2; Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12. Isoform 6 increases water and sodium absorption in the intestine and gall-bladder." 9606.ENSP00000347872,VAT1,393,Synaptic vesicle membrane protein VAT-1 homolog; Possesses ATPase activity (By similarity). Plays a part in calcium-regulated keratinocyte activation in epidermal repair mechanisms. Has no effect on cell proliferation. Negatively regulates mitochondrial fusion in cooperation with mitofusin proteins (MFN1-2). 9606.ENSP00000347896,MBD6,1003,Methyl-CpG-binding domain protein 6; Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). 9606.ENSP00000347915,TTC30A,665,"Tetratricopeptide repeat protein 30A; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip; Belongs to the TTC30/dfy-1/fleer family." 9606.ENSP00000347916,CLEC12A,275,C-type lectin domain family 12 member A; Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases. 9606.ENSP00000347924,SFXN4,337,Sideroflexin-4; Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria. Belongs to the sideroflexin family. 9606.ENSP00000347931,PCNX3,2034,Pecanex-like protein 3; Pecanex 3; Belongs to the pecanex family. 9606.ENSP00000347933,PLGLB1,96,Plasminogen-like protein B; May bind noncovalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction. 9606.ENSP00000347942,RET,1114,"Extracellular cell-membrane anchored RET cadherin 120 kDa fragment; Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and [...] " 9606.ENSP00000347948,TNFRSF14,283,"Tumor necrosis factor receptor superfamily member 14; Receptor for four distinct ligands: The TNF superfamily members TNFSF14/LIGHT and homotrimeric LTA/lymphotoxin-alpha and the immunoglobulin superfamily members BTLA and CD160, altogether defining a complex stimulatory and inhibitory signaling network. Signals via the TRAF2-TRAF3 E3 ligase pathway to promote immune cell survival and differentiation. Participates in bidirectional cell-cell contact signaling between antigen presenting cells and lymphocytes. In response to ligation of TNFSF14/LIGHT, delivers costimulatory signals to T c [...] " 9606.ENSP00000347997,UBQLN3,655,Ubiquilin-3; Ubiquilin 3. 9606.ENSP00000348010,PRPF39,669,Pre-mRNA-processing factor 39; Involved in pre-mRNA splicing. 9606.ENSP00000348019,SLC17A5,495,"Sialin; Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva. Belongs to the major facilitator [...] " 9606.ENSP00000348020,MLH3,1453,DNA mismatch repair protein Mlh3; Probably involved in the repair of mismatches in DNA. 9606.ENSP00000348033,OR11L1,322,Olfactory receptor 11L1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000348043,LRRC20,184,Leucine-rich repeat-containing protein 20; Leucine rich repeat containing 20. 9606.ENSP00000348054,COMMD6,98,COMM domain-containing protein 6; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Down-regulates activation of NF- kappa-B. Inhibits TNF-induced NFKB1 activation. 9606.ENSP00000348056,UBE2I,158,"SUMO-conjugating enzyme UBC9; Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3, SUMO4 and SUMO1P1/SUMO5 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2, CBX4 and ZNF451. Can catalyze the formation of poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at 'Lys-386'. Mediates sumoylation of ERCC6 which is essential for its transcription-coupled nucleotide excision repair activity. Belongs to the ubiqu [...] " 9606.ENSP00000348064,ART3,389,ADP-ribosyltransferase 3. 9606.ENSP00000348069,SREBF1,1177,Processed sterol regulatory element-binding protein 1; Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5'- ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3'). 9606.ENSP00000348074,CLEC9A,241,"C-type lectin domain family 9 member A; Functions as an endocytic receptor on a small subset of myeloid cells specialized for the uptake and processing of material from dead cells. Recognizes filamentous form of actin in association with particular actin-binding domains of cytoskeletal proteins, including spectrin, exposed when cell membranes are damaged, and mediate the cross-presentation of dead-cell associated antigens in a Syk-dependent manner." 9606.ENSP00000348086,FAM227A,651,Protein FAM227A; Family with sequence similarity 227 member A. 9606.ENSP00000348089,ERCC6,1493,"DNA excision repair protein ERCC-6; Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-b [...] " 9606.ENSP00000348099,PDLIM7,457,"PDZ and LIM domain protein 7; May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity)." 9606.ENSP00000348107,C1D,141,Nuclear nucleic acid-binding protein C1D; Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity). 9606.ENSP00000348108,KHDRBS3,346,"KH domain-containing, RNA-binding, signal transduction-associated protein 3; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6. Involved in splice site selection of vascular endothelial growth factor. In vitro regulates CD44 alternative splicing by direct [...] " 9606.ENSP00000348128,SVIL,2214,"Supervillin; [Isoform 1]: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function." 9606.ENSP00000348129,WDR88,472,WD repeat domain 88. 9606.ENSP00000348132,STK31,1019,Serine/threonine kinase 31; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. 9606.ENSP00000348145,C14orf178,122,Uncharacterized protein C14orf178; Chromosome 14 open reading frame 178. 9606.ENSP00000348161,GPR160,338,Probable G-protein coupled receptor 160; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000348162,ZNF507,953,Zinc finger protein 507; May be involved in transcriptional regulation. 9606.ENSP00000348163,PLS3,630,"Plastin-3; Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development." 9606.ENSP00000348168,GTF2E2,291,Transcription initiation factor IIE subunit beta; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. 9606.ENSP00000348169,NLGN4Y,816,"Neuroligin-4, Y-linked; Putative neuronal cell surface protein involved in cell-cell- interactions." 9606.ENSP00000348170,HP,406,"Haptoglobin alpha chain; As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity, and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway." 9606.ENSP00000348206,PRELID3B,194,PRELI domain containing 3B. 9606.ENSP00000348211,SLC25A46,418,Solute carrier family 25 member 46; May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000348215,SH3PXD2A,1105,"SH3 and PX domain-containing protein 2A; Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide. Belongs to the SH3PXD2 family." 9606.ENSP00000348216,TRIM4,500,"E3 ubiquitin-protein ligase TRIM4; E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination of the innate immune receptor DDX58, this linkage doesn't lead to proteasomal degradation but seems to enhance IFN induction; Belongs to the TRIM/RBCC family." 9606.ENSP00000348234,TAT,454,"Tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine." 9606.ENSP00000348278,STK39,545,"STE20/SPS1-related proline-alanine-rich protein kinase; May act as a mediator of stress-activated signals. Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTR activities by the WNK scaffolds, probably through phosphorylation. Phosphorylates RELT. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily." 9606.ENSP00000348299,TRIM13,410,"E3 ubiquitin-protein ligase TRIM13; Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER- associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress- induced autophagy, and [...] " 9606.ENSP00000348300,BTG4,223,"Protein BTG4; Shows marked antiproliferative activity, being able to induce G(1) arrest." 9606.ENSP00000348308,MMP23B,390,"Matrix metalloproteinase-23, soluble form; Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity)." 9606.ENSP00000348314,SPEF2,1822,"Sperm flagellar protein 2; Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation." 9606.ENSP00000348316,JPT1,181,"Jupiter microtubule associated homolog 1, N-terminally processed; Modulates negatively AKT-mediated GSK3B signaling. Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions. Plays a role in the regulation of cell cycle and cell adhesion. Has an inhibitory role on AR-signaling pathway through the induction of receptor proteosomal degradation. Belongs to the JUPITER family." 9606.ENSP00000348349,MYO9A,2548,Unconventional myosin-IXa; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuron axon guidance (By similarity). 9606.ENSP00000348380,CYP20A1,462,Cytochrome P450 family 20 subfamily A member 1. 9606.ENSP00000348381,ADD3,706,Gamma-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping. Binds to calmodulin. Belongs to the aldolase class II family. Adducin subfamily. 9606.ENSP00000348385,COL27A1,1860,Collagen alpha-1(XXVII) chain; Plays a role during the calcification of cartilage and the transition of cartilage to bone; Belongs to the fibrillar collagen family. 9606.ENSP00000348395,NPEPL1,523,Probable aminopeptidase NPEPL1; Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides. 9606.ENSP00000348416,TJP1,1768,"Tight junction protein ZO-1; TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton. The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role i [...] " 9606.ENSP00000348419,ZNF44,663,Zinc finger protein 44; May be involved in transcriptional regulation. 9606.ENSP00000348429,ACSL5,739,"Long-chain-fatty-acid--CoA ligase 5; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small [...] " 9606.ENSP00000348442,PSMD12,456,"26S proteasome non-ATPase regulatory subunit 12; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair." 9606.ENSP00000348449,OR8B4,309,Olfactory receptor 8B4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000348453,ANO2,999,"Anoctamin-2; Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor- sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina. Belongs to the anoctamin family." 9606.ENSP00000348455,UVRAG,699,UV radiation resistance-associated gene protein; Versatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3- phosphate (PtdIns(3)P). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3- C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in matur [...] 9606.ENSP00000348459,ACMSD,336,"2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; Converts alpha-amino-beta-carboxymuconate-epsilon- semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway; Belongs to the metallo-dependent [...] " 9606.ENSP00000348460,NPAS3,933,Neuronal PAS domain-containing protein 3; May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity). 9606.ENSP00000348461,RAC1,211,"Ras-related C3 botulinum toxin substrate 1; Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity [...] " 9606.ENSP00000348471,SH3YL1,342,SH3 domain-containing YSC84-like protein 1; SH3 and SYLF domain containing 1. 9606.ENSP00000348472,PXK,578,"PX domain-containing protein kinase-like protein; Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity." 9606.ENSP00000348489,FBRS,980,Probable fibrosin-1; Fibrosin. 9606.ENSP00000348496,SUN5,379,SUN domain-containing protein 5; Plays an essential role in anchoring sperm head to the tail. Is responsible for the attachment of the coupling apparatus to the sperm nuclear envelope. 9606.ENSP00000348510,GTF3C1,2109,General transcription factor 3C polypeptide 1; Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element. 9606.ENSP00000348527,CENPL,390,"Centromere protein L; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex." 9606.ENSP00000348538,RBM38,239,"RNA-binding protein 38; RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2-II [...] " 9606.ENSP00000348554,CDC16,620,"Cell division cycle protein 16 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC6/CDC16 family." 9606.ENSP00000348564,CDAN1,1227,Codanin-1; May act as a negative regulator of ASF1 in chromatin assembly. 9606.ENSP00000348565,UBA5,404,Ubiquitin-like modifier-activating enzyme 5; E1-like enzyme which activates UFM1 and SUMO2. Belongs to the ubiquitin-activating E1 family. UBA5 subfamily. 9606.ENSP00000348573,AKAP9,3907,"A-kinase anchor protein 9; Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus. Required for microtubule nucleation at the cis-side of the Golgi apparatus. Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase. In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement. In compl [...] " 9606.ENSP00000348596,SDAD1,687,Protein SDA1 homolog; Required for 60S pre-ribosomal subunits export to the cytoplasm; Belongs to the SDA1 family. 9606.ENSP00000348602,AMPH,695,Amphiphysin; May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton. 9606.ENSP00000348632,RBCK1,510,"RanBP-type and C3HC4-type zinc finger-containing protein 1; E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. Component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammat [...] " 9606.ENSP00000348635,JAML,394,"Junctional adhesion molecule-like; Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells. The interaction between both receptors mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferat [...] " 9606.ENSP00000348639,TMPRSS11F,438,Transmembrane protease serine 11F; Probable serine protease; Belongs to the peptidase S1 family. 9606.ENSP00000348645,PXDNL,1463,"Peroxidasin-like protein; [Isoform PMR1]: Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs." 9606.ENSP00000348668,GALNT6,622,"Polypeptide N-acetylgalactosaminyltransferase 6; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. May participate in synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides." 9606.ENSP00000348673,ZNF770,691,Zinc finger protein 770; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000348708,UPF2,1272,Regulator of nonsense transcripts 2; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA. 9606.ENSP00000348714,AREL1,823,"Apoptosis-resistant E3 ubiquitin protein ligase 1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation." 9606.ENSP00000348752,ORAI2,254,"Protein orai-2; Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)-selective current by synergy with the Ca(2+) sensor, STIM1." 9606.ENSP00000348753,SPRED2,418,"Sprouty-related, EVH1 domain-containing protein 2; Negatively regulates Ras signaling pathways and downstream activation of MAP kinases." 9606.ENSP00000348757,CCDC151,595,Coiled-coil domain-containing protein 151; Ciliary protein involved in outer dynein arm assembly and required for motile cilia function. 9606.ENSP00000348769,ARIH2,493,"E3 ubiquitin-protein ligase ARIH2; E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3. Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (By similarity). The initial ubiquitin is then elongated (By similarity). E3 ubiquitin-protein ligase activity is activated [...] " 9606.ENSP00000348772,PITPNM1,1244,"Membrane-associated phosphatidylinositol transfer protein 1; Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golg [...] " 9606.ENSP00000348775,ACOX3,700,Peroxisomal acyl-coenzyme A oxidase 3; Oxidizes the CoA-esters of 2-methyl-branched fatty acids. Belongs to the acyl-CoA oxidase family. 9606.ENSP00000348821,MYOM1,1685,"Myomesin-1; Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent." 9606.ENSP00000348828,ARHGEF26,871,"Rho guanine nucleotide exchange factor 26; Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry." 9606.ENSP00000348838,UBE2C,179,"Ubiquitin-conjugating enzyme E2 C; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by initiating 'Lys-11'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit." 9606.ENSP00000348842,EML6,1958,"Echinoderm microtubule-associated protein-like 6; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic." 9606.ENSP00000348848,WDR45,361,"WD repeat domain phosphoinositide-interacting protein 4; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes. Probably recruited to membranes through its PtdIns3P activity." 9606.ENSP00000348849,RPS26,115,Ribosomal protein S26; Belongs to the eukaryotic ribosomal protein eS26 family. 9606.ENSP00000348886,STOML2,356,"Stomatin-like protein 2, mitochondrial; Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. M [...] " 9606.ENSP00000348888,PIGR,764,Polymeric immunoglobulin receptor; This receptor binds polymeric IgA and IgM at the basolateral surface of epithelial cells. The complex is then transported across the cell to be secreted at the apical surface. During this process a cleavage occurs that separates the extracellular (known as the secretory component) from the transmembrane segment. 9606.ENSP00000348911,AADACL2,401,Arylacetamide deacetylase like 2. 9606.ENSP00000348912,ADAM33,813,Disintegrin and metalloproteinase domain-containing protein 33; ADAM metallopeptidase domain 33. 9606.ENSP00000348924,H2BC7,126,H2B clustered histone 7. 9606.ENSP00000348931,FABP7,166,"Fatty acid-binding protein, brain; B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity)." 9606.ENSP00000348933,CCDC25,208,Coiled-coil domain containing 25; Belongs to the CCDC25 family. 9606.ENSP00000348944,RSPO1,263,"R-spondin-1; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin- dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May neg [...] " 9606.ENSP00000348959,MAN1A2,641,"Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB; Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2); Belongs to the glycosyl hydrolase 47 family." 9606.ENSP00000348965,DYNC1H1,4646,Cytoplasmic dynein 1 heavy chain 1; Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression. Belongs to the dynein heavy chain family. 9606.ENSP00000348968,WFDC11,87,Protein WFDC11; WAP four-disulfide core domain 11. 9606.ENSP00000348982,MEGF6,1541,Multiple epidermal growth factor-like domains protein 6; Multiple EGF like domains 6. 9606.ENSP00000348984,SON,2426,"Protein SON; RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core prom [...] " 9606.ENSP00000349003,PTGER3,418,"Prostaglandin E2 receptor EP3 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G(i) proteins, and to an elevation of intracellular calcium. Required for normal development of fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS). Required for normal potentiation of platelet aggregation by prostaglandin E2, and thus plays a role in the regulation of blood coagulation. Required for increased HCO3(-) secretion in the duodenum in response to muco [...] " 9606.ENSP00000349016,PEX14,377,Peroxisomal membrane protein PEX14; Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin. 9606.ENSP00000349022,ARC,396,"Activity-regulated cytoskeleton-associated protein; Master regulator of synaptic plasticity that self-assembles into virion-like capsids that encapsulate RNAs and mediate intercellular RNA transfer in the nervous system. ARC protein is released from neurons in extracellular vesicles that mediate the transfer of ARC mRNA into new target cells, where ARC mRNA can undergo activity-dependent translation. ARC capsids are endocytosed and are able to transfer ARC mRNA into the cytoplasm of neurons. Acts as a key regulator of synaptic plasticity: required for protein synthesis- dependent forms [...] " 9606.ENSP00000349041,NRARP,114,Notch-regulated ankyrin repeat-containing protein; Downstream effector of Notch signaling. Involved in the regulation of liver cancer cells self-renewal. Involved in angiogenesis acting downstream of Notch at branch points to regulate vascular density. Proposed to integrate endothelial Notch and Wnt signaling to control stalk cell proliferation and to stablilize new endothelial connections during angiogenesis. During somitogenesis involved in maintenance of proper somite segmentation and proper numbers of somites and vertebrae. Required for proper anterior- posterior somite patterning. [...] 9606.ENSP00000349052,OSCP1,389,Protein OSCP1; May be involved in drug clearance in the placenta. 9606.ENSP00000349078,FDPS,419,"Farnesyl pyrophosphate synthase; Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate; Belongs to the FPP/GGPP synthase family." 9606.ENSP00000349085,MAGEA1,309,Melanoma-associated antigen 1; May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. 9606.ENSP00000349087,TMEM259,620,"Membralin; May have a role in the ERAD pathway required for clearance of misfolded proteins in the endoplasmic reticulum (ER). Promotes survival of motor neurons, probably by protecting against ER stress. Belongs to the membralin family." 9606.ENSP00000349116,SEPTIN10,544,Septin-10; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. 9606.ENSP00000349124,PPP4R2,417,"Serine/threonine-protein phosphatase 4 regulatory subunit 2; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on 'Ser-140' (gamma-H2AX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylatio [...] " 9606.ENSP00000349131,RSPO3,272,"R-spondin-3; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non- canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts [...] " 9606.ENSP00000349142,ATP5F1C,298,"ATP synthase subunit gamma, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the [...] " 9606.ENSP00000349143,BTN2A2,523,"Butyrophilin subfamily 2 member A2; Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion. Belongs to the immunoglobulin superfamily. BTN/MOG family." 9606.ENSP00000349147,CNNM1,951,Metal transporter CNNM1; Probable metal transporter; Belongs to the ACDP family. 9606.ENSP00000349156,SIAH1,313,"E3 ubiquitin-protein ligase SIAH1; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin- mediated degradation of many substrates, including proteins involved in transcription [...] " 9606.ENSP00000349161,ZNF790,636,Zinc finger protein 790; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000349168,HNRNPH1,449,"Heterogeneous nuclear ribonucleoprotein H, N-terminally processed; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG)." 9606.ENSP00000349181,HVCN1,273,"Voltage-gated hydrogen channel 1; Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis." 9606.ENSP00000349204,CRB3,123,Protein crumbs homolog 3; Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions. 9606.ENSP00000349205,PIK3R4,1358,"Phosphoinositide 3-kinase regulatory subunit 4; Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 ; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family." 9606.ENSP00000349208,PIWIL2,973,"Piwi-like protein 2; Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent re [...] " 9606.ENSP00000349238,CCDC88B,1476,"Coiled-coil domain-containing protein 88B; Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation (By similarity). Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein- mediated clustering [...] " 9606.ENSP00000349244,EDRF1,1238,Erythroid differentiation-related factor 1; Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene. 9606.ENSP00000349252,ITGAL,1170,"Integrin alpha-L; Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is a receptor for F11R. Integin ITGAL/ITGB2 is a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL. Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity. Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutroph [...] " 9606.ENSP00000349259,SPTBN1,2364,"Spectrin beta chain, non-erythrocytic 1; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane." 9606.ENSP00000349270,HBM,141,Hemoglobin subunit mu. 9606.ENSP00000349274,PPP1R26,1209,Protein phosphatase 1 regulatory subunit 26; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation. 9606.ENSP00000349281,ARMCX2,632,Armadillo repeat-containing X-linked protein 2; May regulate the dynamics and distribution of mitochondria in neural cells. 9606.ENSP00000349291,TBC1D9B,1250,TBC1 domain family member 9B; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000349296,TMEM71,276,Transmembrane protein 71; Belongs to the TMEM71 family. 9606.ENSP00000349298,MYLIP,445,"E3 ubiquitin-protein ligase MYLIP; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR." 9606.ENSP00000349305,GOLGA4,2243,Golgin subfamily A member 4; Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking. 9606.ENSP00000349313,NHEJ1,299,"Non-homologous end-joining factor 1; DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. Binds DNA in a length-dependent manne [...] " 9606.ENSP00000349320,CACNA2D1,1091,Voltage-dependent calcium channel subunit alpha-2/delta-1; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation- contraction coupling (By similarity). 9606.ENSP00000349324,TNFRSF10C,259,Tumor necrosis factor receptor superfamily member 10C; Receptor for the cytotoxic ligand TRAIL. Lacks a cytoplasmic death domain and hence is not capable of inducing apoptosis. May protect cells against TRAIL mediated apoptosis by competing with TRAIL- R1 and R2 for binding to the ligand. 9606.ENSP00000349351,BICD2,855,Protein bicaudal D homolog 2; Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi- endoplasmic reticulum [...] 9606.ENSP00000349358,C12orf29,325,Uncharacterized protein C12orf29; Chromosome 12 open reading frame 29. 9606.ENSP00000349359,SASH3,380,SAM and SH3 domain-containing protein 3; May function as a signaling adapter protein in lymphocytes. 9606.ENSP00000349365,IL27,243,"Interleukin-27 subunit alpha; Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal ex [...] " 9606.ENSP00000349396,ABCD4,606,ATP-binding cassette sub-family D member 4; May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm. 9606.ENSP00000349400,SLITRK4,837,SLIT and NTRK-like protein 4; It is involved in synaptogenesis and promotes synapse differentiation. Suppresses neurite outgrowth (By similarity); Belongs to the SLITRK family. 9606.ENSP00000349401,ZNF708,563,Zinc finger protein 708; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000349428,PTBP1,557,Polypyrimidine tract-binding protein 1; Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre- mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre- mRNA. Represses the splicing of MAPT/Tau exon 10. In case of infection by picorn [...] 9606.ENSP00000349430,H2BC12,126,"Histone H2B type 1-K; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000349436,ADAM15,863,Disintegrin and metalloproteinase domain-containing protein 15; Active metalloproteinase with gelatinolytic and collagenolytic activity. Plays a role in the wound healing process. Mediates both heterotypic intraepithelial cell/T-cell interactions and homotypic T-cell aggregation. Inhibits beta-1 integrin-mediated cell adhesion and migration of airway smooth muscle cells. Suppresses cell motility on or towards fibronectin possibly by driving alpha-v/beta-1 integrin (ITAGV-ITGB1) cell surface expression via ERK1/2 inactivation. Cleaves E-cadherin in response to growth factor deprivation. [...] 9606.ENSP00000349437,IGF2R,2491,"Cation-independent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4." 9606.ENSP00000349439,TXNDC11,985,Thioredoxin domain-containing protein 11; May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation. 9606.ENSP00000349446,ARG1,330,"Arginase-1; Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys. Belongs to the arginase family." 9606.ENSP00000349456,CLCC1,551,Chloride channel CLIC-like protein 1; Seems to act as a chloride ion channel. Plays a role in retina development. Belongs to the chloride channel MCLC family. 9606.ENSP00000349458,ICK,632,Serine/threonine-protein kinase ICK; Required for ciliogenesis. Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length. Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling- dependent manner and this regulation requires its kinase activity ( [...] 9606.ENSP00000349459,SPINK14,97,Serine protease inhibitor Kazal-type 14; May be a serine protease inhibitor. 9606.ENSP00000349486,SCRIB,1655,Protein scribble homolog; Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicle [...] 9606.ENSP00000349490,MFNG,321,"Beta-1,3-N-acetylglucosaminyltransferase manic fringe; Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity)." 9606.ENSP00000349493,GUCA2A,115,HMW-guanylin; Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins; Belongs to the guanylin family. 9606.ENSP00000349494,ZNF254,659,Zinc finger protein 254; May be involved in transcriptional regulation. 9606.ENSP00000349503,ZBTB14,449,"Zinc finger and BTB domain-containing protein 14; Transcriptional activator of the dopamine transporter (DAT), binding it's promoter at the consensus sequence 5'-CCTGCACAGTTCACGGA- 3'. Binds to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters." 9606.ENSP00000349541,CAVIN1,390,"Caveolae-associated protein 1; Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues. Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releas [...] " 9606.ENSP00000349543,PEX2,305,Peroxisome biogenesis factor 2; Somewhat implicated in the biogenesis of peroxisomes; Belongs to the pex2/pex10/pex12 family. 9606.ENSP00000349547,RASSF1,344,"Ras association domain-containing protein 1; Potential tumor suppressor. Required for death receptor- dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating [...] " 9606.ENSP00000349568,CFAP43,1665,Cilia- and flagella-associated protein 43; Flagellar protein involved in sperm flagellum axoneme organization and function. 9606.ENSP00000349575,MOB3A,217,MOB kinase activator 3A; May regulate the activity of kinases. 9606.ENSP00000349576,DCTD,189,Deoxycytidylate deaminase; Supplies the nucleotide substrate for thymidylate synthetase. 9606.ENSP00000349577,PRODH,600,Proline dehydrogenase; Converts proline to delta-1-pyrroline-5-carboxylate. 9606.ENSP00000349588,ANK2,3957,"Ankyrin-2; Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5- trisphosphate (InsP3) receptors at sarcoplasmic re [...] " 9606.ENSP00000349593,ZHX1-C8orf76,292,"Zinc fingers and homeoboxes protein 1, isoform 2; ZHX1-C8orf76 readthrough." 9606.ENSP00000349594,ELAVL4,402,"ELAV-like protein 4; RNA-binding protein that is involved in the post- transcriptional regulation of mRNAs. Plays a role in the regulation of mRNA stability, alternative splicing and translation. Binds to AU-rich element (ARE) sequences in the 3' untranslated region (UTR) of target mRNAs, including GAP43, VEGF, FOS, CDKN1A and ACHE mRNA. Many of the target mRNAs are coding for RNA-binding proteins, transcription factors and proteins involved in RNA processing and/or neuronal development and function (By similarity). By binding to the mRNA 3'UTR, decreases mRNA deadenylation and thereby [...] " 9606.ENSP00000349595,ATP2A1,1001,Sarcoplasmic/endoplasmic reticulum calcium ATPase 1; Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction ; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. 9606.ENSP00000349596,TRIM38,465,"E3 ubiquitin-protein ligase TRIM38; E3 ubiquitin-protein ligase. Mediates 'Lys-48'-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling." 9606.ENSP00000349616,ADIPOR2,386,"Adiponectin receptor protein 2; Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism. Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity); Belongs to the ADIPOR family." 9606.ENSP00000349629,LRBA,2863,Lipopolysaccharide-responsive and beige-like anchor protein; May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules. 9606.ENSP00000349640,MCRS1,475,"Microspherule protein 1; Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity. Binds to G-quadruplex structures in mRNA. Binds to RNA homopolymer poly(G) and poly(U)." 9606.ENSP00000349658,XPNPEP3,507,"Xaa-Pro aminopeptidase 3; Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala. Also shows low activity towards peptides with Ala or Ser at the P1 position." 9606.ENSP00000349669,TEX43,134,Testis-expressed protein 43; Testis expressed 43. 9606.ENSP00000349677,SPOCK3,436,Testican-3; May participate in diverse steps of neurogenesis. Inhibits the processing of pro-matrix metalloproteinase 2 (MMP-2) by MT1-MMP and MT3-MMP. May interfere with tumor invasion. 9606.ENSP00000349678,MYBPHL,354,Myosin-binding protein H-like; Myosin binding protein H like; Belongs to the immunoglobulin superfamily. MyBP family. 9606.ENSP00000349679,DYNLRB1,96,Dynein light chain roadblock-type 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. 9606.ENSP00000349687,GM2A,193,"Ganglioside GM2 activator isoform short; The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium- independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D- galactosamine and conversion to GM3." 9606.ENSP00000349689,ZDHHC9,364,Palmitoyltransferase ZDHHC9; The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. 9606.ENSP00000349708,ZMYM6,1325,Zinc finger MYM-type protein 6; Plays a role in the regulation of cell morphology and cytoskeletal organization. 9606.ENSP00000349709,RAET1E,263,"Retinoic acid early transcript 1E; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity; Belongs to the MHC class I family." 9606.ENSP00000349722,UBE2D3,149,Ubiquitin conjugating enzyme E2 D3; Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000349723,BCL11B,894,"B-cell lymphoma/leukemia 11B; Key regulator of both differentiation and survival of T- lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus. Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes. Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element [...] " 9606.ENSP00000349727,DOK3,496,Docking protein 3; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK3 is a negative regulator of JNK signaling in B-cells through interaction with INPP5D/SHIP1. May modulate ABL1 function (By similarity). 9606.ENSP00000349732,C3orf18,162,Uncharacterized protein C3orf18; Chromosome 3 open reading frame 18. 9606.ENSP00000349748,SFPQ,707,"Splicing factor, proline- and glutamine-rich; DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphory [...] " 9606.ENSP00000349768,DCHS2,3371,Protocadherin-23; Calcium-dependent cell-adhesion protein. 9606.ENSP00000349781,TBC1D8B,1120,"TBC1 domain family member 8B; Involved in vesicular recycling, probably as a RAB11B GTPase- activating protein." 9606.ENSP00000349785,MAP1LC3C,147,"Microtubule-associated proteins 1A/1B light chain 3C; Ubiquitin-like modifier that plays a crucial role in antibacterial autophagy (xenophagy) through the selective binding of CALCOCO2. Recruits all ATG8 family members to infecting bacteria such as S.Typhimurium. May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated and aggregated proteins." 9606.ENSP00000349790,COL9A1,921,Collagen alpha-1(IX) chain; Structural component of hyaline cartilage and vitreous of the eye. 9606.ENSP00000349805,INKA2,297,"PAK4-inhibitor INKA2; Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity; Belongs to the INKA family." 9606.ENSP00000349823,SMARCAL1,954,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks." 9606.ENSP00000349824,REPS2,660,RalBP1-associated Eps domain-containing protein 2; Involved in growth factor signaling through its influence on the Ral signaling pathway. 9606.ENSP00000349856,PRRC2B,2229,Protein PRRC2B; Proline rich coiled-coil 2B. 9606.ENSP00000349860,GFPT1,699,Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1. 9606.ENSP00000349874,NUDT13,352,Nucleoside diphosphate-linked moiety X motif 13; Nudix hydrolase 13. 9606.ENSP00000349877,ATP13A1,1204,Manganese-transporting ATPase 13A1; Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. 9606.ENSP00000349884,GALP,116,"Galanin-like peptide; [Isoform 1]: Hypothalamic neuropeptide which binds to the G- protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion." 9606.ENSP00000349891,ANKRD20A4,823,Ankyrin repeat domain-containing protein 20A4. 9606.ENSP00000349893,DLK2,383,Protein delta homolog 2; Regulates adipogenesis. 9606.ENSP00000349923,LAGE3,143,EKC/KEOPS complex subunit LAGE3; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex; Belongs to the CTAG/PCC1 family. 9606.ENSP00000349929,ENTR1,435,"Endosome-associated-trafficking regulator 1; Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis. Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1. Plays a role in the formation of cilia. Involved in cargo protein localization, such as PKD2, at primary cilia. Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in [...] " 9606.ENSP00000349930,OR11G2,345,Olfactory receptor 11G2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000349931,PRAMEF8,474,PRAME family member 8; Belongs to the PRAME family. 9606.ENSP00000349945,OR5B17,314,Olfactory receptor 5B17; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000349954,CGB3,165,Chorionic gonadotropin subunit beta 3. 9606.ENSP00000349957,ANAPC11,196,"Anaphase-promoting complex subunit 11; Together with the cullin protein ANAPC2, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugati [...] " 9606.ENSP00000349967,CCRL2,356,"C-C chemokine receptor-like 2; Receptor for CCL19 and chemerin/RARRES2. Does not appear to be a signaling receptor, but may have a role in modulating chemokine- triggered immune responses by capturing and internalizing CCL19 or by presenting RARRES2 ligand to CMKLR1, a functional signaling receptors. Plays a critical role for the development of Th2 responses." 9606.ENSP00000349970,ERGIC3,388,Endoplasmic reticulum-Golgi intermediate compartment protein 3; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the ERGIC family. 9606.ENSP00000349971,CEACAM3,252,"Carcinoembryonic antigen-related cell adhesion molecule 3; Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis." 9606.ENSP00000350005,GIP,153,Gastric inhibitory polypeptide; Potent stimulator of insulin secretion and relatively poor inhibitor of gastric acid secretion. 9606.ENSP00000350012,ACSL3,720,"Long-chain-fatty-acid--CoA ligase 3; Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta- oxidation. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins). Has mainly an anabolic role in energy metabolism. Mediates hepatic lipogenesis. Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates. Both isoforms exhibit the same level of activity (By similarity)." 9606.ENSP00000350032,FRMD4A,1039,FERM domain-containing protein 4A; Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling. 9606.ENSP00000350036,SMC1B,1235,"Structural maintenance of chromosomes protein 1B; Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, t [...] " 9606.ENSP00000350049,HOMEZ,550,Homeobox and leucine zipper protein Homez; May function as a transcriptional regulator. 9606.ENSP00000350050,TMEM229B,167,Transmembrane protein 229B. 9606.ENSP00000350066,ECE2,811,"Endothelin-converting enzyme 2; Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May play a role in amyloid-beta processing (By similarity); Belongs to the peptidase M13 family." 9606.ENSP00000350071,STRN3,797,Striatin-3; Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein. 9606.ENSP00000350075,ARPIN,226,Arpin; Regulates actin polymerization by inhibiting the actin- nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors. Participates in an incoherent feedforward loop at the lamellipodium tip where it inhibits the ARP2/2 complex in response to Rac signaling and where Rac also stimulates actin polymerization through the WAVE complex. Involved in steering cell migration by controlling its directional persistence. 9606.ENSP00000350078,ARID5A,594,AT-rich interactive domain-containing protein 5A; Binds to AT-rich stretches in the modulator region upstream of the human cytomegalovirus major intermediate early gene enhancer. May act as repressor and down-regulate enhancer-dependent gene expressison. May positively regulate chondrocyte- specific transcription such as of COL2A1 in collaboration with SOX9 and positively regulate histone H3 acetylation at chondrocyte-specific genes. May stimulate early-stage chondrocyte differentiation and inhibit later stage differention (By similarity). Can repress ESR1- mediated transcriptional act [...] 9606.ENSP00000350085,ZNF43,818,Zinc finger protein 43; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000350090,HNRNPA1L2,320,"Heterogeneous nuclear ribonucleoprotein A1-like 2; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection." 9606.ENSP00000350098,POP5,163,"Ribonuclease P/MRP protein subunit POP5; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences." 9606.ENSP00000350102,TOR4A,423,Torsin-4A; Torsin family 4 member A. 9606.ENSP00000350132,PLN,52,Cardiac phospholamban; Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation; Belongs to the phospholamban family. 9606.ENSP00000350136,RIMKLB,386,Beta-citrylglutamate synthase B; Catalyzes the synthesis of beta-citryl-L-glutamate and N- acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate. Belongs to the RimK family. 9606.ENSP00000350162,SYCP2,1530,"Synaptonemal complex protein 2; Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements; Belongs [...] " 9606.ENSP00000350170,FXR1,621,Fragile X mental retardation syndrome-related protein 1; RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity); Belongs to the FMR1 family. 9606.ENSP00000350195,MAP3K6,1288,"Mitogen-activated protein kinase kinase kinase 6; Component of a protein kinase signal transduction cascade. Activates the JNK, but not ERK or p38 kinase pathways." 9606.ENSP00000350198,SSTR2,369,Somatostatin receptor type 2; Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and PLC via pertussis toxin insensitive as well as sensitive G proteins. Inhibits calcium entry by suppressing voltage-dependent calcium channels. Acts as the functionally dominant somatostatin receptor in pancreatic alpha- and beta-cells where it mediates the inhibitory effect of somatostatin-14 on hormone secretion. Inhibits cell growth through enhancement of MAPK1 [...] 9606.ENSP00000350199,AP1B1,949,AP-1 complex subunit beta-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. 9606.ENSP00000350223,DNAJC14,702,"DnaJ homolog subfamily C member 14; Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface." 9606.ENSP00000350224,BMX,675,"Cytoplasmic tyrosine-protein kinase BMX; Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of in [...] " 9606.ENSP00000350249,POT1,634,Protection of telomeres protein 1; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis- inhibition of telomerase. Also acts as a single-stranded telomeric DNA- binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is [...] 9606.ENSP00000350256,CCR9,369,C-C chemokine receptor type 9; Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level. Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000350260,FAM219B,198,Protein FAM219B; Family with sequence similarity 219 member B. 9606.ENSP00000350266,DENND2D,471,"DENN domain-containing protein 2D; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form." 9606.ENSP00000350267,BRPF3,1205,Bromodomain and PHD finger-containing protein 3; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. 9606.ENSP00000350278,SLC30A7,376,"Zinc transporter 7; Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity); Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily." 9606.ENSP00000350295,ZNF816,651,Zinc finger protein 816; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000350310,ATP2B4,1205,"Plasma membrane calcium-transporting ATPase 4; Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity). Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily." 9606.ENSP00000350314,BCO2,579,"Beta,beta-carotene 9',10'-oxygenase; Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta- ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects. Belongs to the carotenoid oxygenase family." 9606.ENSP00000350331,ASB13,278,Ankyrin repeat and SOCS box protein 13; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000350332,MYBPC2,1141,"Myosin-binding protein C, fast-type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F- actin and native thin filaments, and modifies the activity of actin- activated myosin ATPase. It may modulate muscle contraction or may play a more structural role; Belongs to the immunoglobulin superfamily. MyBP family." 9606.ENSP00000350333,SAP130,1083,Histone deacetylase complex subunit SAP130; Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes. 9606.ENSP00000350348,GRM7,915,"Metabotropic glutamate receptor 7; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity." 9606.ENSP00000350353,ETFBKMT,262,"Electron transfer flavoprotein beta subunit lysine methyltransferase; Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria. Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain." 9606.ENSP00000350358,PRAMEF12,483,PRAME family member 12; Belongs to the PRAME family. 9606.ENSP00000350359,CREB5,508,Cyclic AMP-responsive element-binding protein 5; Binds to the cAMP response element and activates transcription. 9606.ENSP00000350364,NEGR1,354,Neuronal growth regulator 1; May be involved in cell-adhesion. May function as a trans- neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity); Belongs to the immunoglobulin superfamily. IgLON family. 9606.ENSP00000350369,MAFG,162,"Transcription factor MafG; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1 and NFE2L2, and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NFE2L2 transcription factor. Transcription factor, component of erythroid- specific transcription factor NFE2L2. Activates globin [...] " 9606.ENSP00000350377,MCTP2,878,Multiple C2 and transmembrane domain-containing protein 2; Might play a role in the development of cardiac outflow tract; Belongs to the MCTP family. 9606.ENSP00000350378,GOLGA7,137,Golgin subfamily A member 7; May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. 9606.ENSP00000350386,CHM,653,"Rab proteins geranylgeranyltransferase component A 1; Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative [...] " 9606.ENSP00000350402,HHLA2,414,"HERV-H LTR-associating protein 2; Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade." 9606.ENSP00000350415,GJA9,515,"Gap junction alpha-9 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000350418,ZNF98,572,Zinc finger protein 98; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000350425,APOA4,396,Apolipoprotein A-IV; May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons; Belongs to the apolipoprotein A1/A4/E family. 9606.ENSP00000350447,SGO2,1265,"Shugoshin 2; Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recru [...] " 9606.ENSP00000350491,PRIM1,420,"DNA primase small subunit; Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase sub [...] " 9606.ENSP00000350509,AIG1,238,"Androgen-induced gene 1 protein; Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids. Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids." 9606.ENSP00000350512,COPS5,334,"COP9 signalosome complex subunit 5; Probable protease subunit of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of the SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD [...] " 9606.ENSP00000350541,LVRN,990,"Aminopeptidase Q; Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys- LCA. Cleaves the N-terminal amino acid of several peptides such as angiotensin-3, kisspeptin-10 and endokinin C." 9606.ENSP00000350547,SEMA4F,770,Semaphorin-4F; Probable cell surface receptor that regulates oligodendroglial precursor cell migration (By similarity). Might also regulate differentiation of oligodendroglial precursor cells (By similarity). Has growth cone collapse activity against retinal ganglion-cell axons (By similarity); Belongs to the semaphorin family. 9606.ENSP00000350549,HMX3,357,Homeobox protein HMX3; Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5'-CAAGTG-3' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity); Belongs to the HMX homeobox family. 9606.ENSP00000350552,RFX4,744,Transcription factor RFX4; Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development; Belongs to the RFX family. 9606.ENSP00000350574,ZBTB44,570,Zinc finger and BTB domain-containing protein 44; May be involved in transcriptional regulation. 9606.ENSP00000350576,ZNF441,693,Zinc finger protein 441; May be involved in transcriptional regulation. 9606.ENSP00000350630,TLL2,1015,"Tolloid-like protein 2; Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis." 9606.ENSP00000350633,SERTAD1,236,SERTA domain-containing protein 1; Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A. 9606.ENSP00000350651,ERI2,691,ERI1 exoribonuclease family member 2; Belongs to the ERI2 family. 9606.ENSP00000350673,FAM3B,235,Protein FAM3B; Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner; Belongs to the FAM3 family. 9606.ENSP00000350676,PHF8,1060,"Histone lysine demethylase PHF8; Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys- 20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivato [...] " 9606.ENSP00000350681,ELK4,431,"ETS domain-containing protein Elk-4; Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilization of SIRT7 at promoters, followed by deacetylation of histone H3 at 'Lys-18' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5'side of SRF, but does not bind DNA autonomously." 9606.ENSP00000350686,ANKLE2,938,"Ankyrin repeat and LEM domain-containing protein 2; Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development ; Belongs to the ANKLE2 family." 9606.ENSP00000350698,DDX47,455,Probable ATP-dependent RNA helicase DDX47; Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors. Belongs to the DEAD box helicase family. DDX47/RRP3 subfamily. 9606.ENSP00000350704,C1orf109,203,Uncharacterized protein C1orf109; May promote cancer cell proliferation by controlling the G1 to S phase transition. 9606.ENSP00000350708,RAD23B,409,UV excision repair protein RAD23 homolog B; Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome. May play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded glycoproteins by association with PNGase and delivering deglycosylated proteins to the proteasome. The XPC complex is proposed to represent the first factor bound at the sites of DNA damage a [...] 9606.ENSP00000350716,TUSC1,212,Tumor suppressor candidate 1. 9606.ENSP00000350718,TMCC2,709,Transmembrane and coiled-coil domains protein 2; May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE. 9606.ENSP00000350719,SYNE2,6907,"Nesprin-2; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane acti [...] " 9606.ENSP00000350734,ST7L,575,Suppression of tumorigenicity 7 like; Belongs to the ST7 family. 9606.ENSP00000350757,GMFB,142,"Glia maturation factor beta; This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells; Belongs to the actin-binding proteins ADF family. GMF subfamily." 9606.ENSP00000350786,ASIC4,666,"Acid-sensing ion channel 4; Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity." 9606.ENSP00000350815,NR3C2,984,Mineralocorticoid receptor; Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels; Belongs to the nuclear hormone receptor family. NR3 subfamily. 9606.ENSP00000350833,MPPED2,294,Metallophosphoesterase MPPED2; Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system. 9606.ENSP00000350844,PAX5,391,"Paired box protein Pax-5; May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene." 9606.ENSP00000350848,HMGN5,282,High mobility group nucleosome-binding domain-containing protein 5; Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction; Belongs to the HMGN family. 9606.ENSP00000350856,C8orf86,223,Uncharacterized protein C8orf86; Chromosome 8 open reading frame 86. 9606.ENSP00000350874,METTL9,318,Methyltransferase-like protein 9; Methyltransferase like 9. 9606.ENSP00000350881,GRAMD1C,662,"Protein Aster-C; Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol [...] " 9606.ENSP00000350896,EPHB4,987,"Ephrin type-B receptor 4; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and bl [...] " 9606.ENSP00000350911,CTSE,396,"Cathepsin E form II; May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain; Belongs to the peptidase A1 family." 9606.ENSP00000350928,GAD1,594,Glutamate decarboxylase 1; Catalyzes the production of GABA. 9606.ENSP00000350934,RABEP2,569,"Rab GTPase-binding effector protein 2; Plays a role in membrane trafficking and in homotypic early endosome fusion. Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking. By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis ; Belongs to the rabaptin family." 9606.ENSP00000350937,TES,421,"Testin; Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth." 9606.ENSP00000350949,GMPPA,420,Mannose-1-phosphate guanyltransferase alpha; May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose. 9606.ENSP00000350961,DMAC1,112,Distal membrane-arm assembly complex protein 1; Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I. 9606.ENSP00000350976,RTP2,225,"Receptor-transporting protein 2; Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs." 9606.ENSP00000351008,LCA5L,670,Lebercilin-like protein; Lebercilin LCA5 like. 9606.ENSP00000351015,NF1,2839,"Neurofibromin truncated; Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity." 9606.ENSP00000351022,TPM1,284,"Tropomyosin alpha-1 chain; Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments." 9606.ENSP00000351035,HSD17B11,300,"Estradiol 17-beta-dehydrogenase 11; Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A- dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma." 9606.ENSP00000351040,FAM217B,383,Protein FAM217B; Family with sequence similarity 217 member B; Belongs to the FAM217 family. 9606.ENSP00000351042,ZNF100,542,Zinc finger protein 100; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000351052,ZC3HC1,502,"Nuclear-interacting partner of ALK; Essential component of a SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry. May have an antiapoptotic role in NPM-ALK-mediated signaling events." 9606.ENSP00000351059,CX3CR1,387,CX3C chemokine receptor 1; Receptor for the CX3C chemokine fractalkine (CX3CL1); binds to CX3CL1 and mediates both its adhesive and migratory functions. Acts as coreceptor with CD4 for HIV- 1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more potent HIV-1 coreceptors than isoform 1. 9606.ENSP00000351075,SUSD2,822,Sushi domain-containing protein 2; May be a cytokine receptor for C10ORF99. May be a tumor suppressor; together with C10ORF99 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest. May play a role in breast tumorigenesis. 9606.ENSP00000351100,WDR55,383,WD repeat-containing protein 55; Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis (By similarity). 9606.ENSP00000351113,FRYL,3013,"Protein furry homolog-like; Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching (By similarity). May function as a transcriptional activator." 9606.ENSP00000351132,RHOT1,691,Mitochondrial Rho GTPase 1; Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution. 9606.ENSP00000351137,XAB2,855,"Pre-mRNA-splicing factor SYF1; Involved in pre-mRNA splicing as component of the spliceosome. Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing. Belongs to the crooked-neck family." 9606.ENSP00000351138,MIGA2,593,Mitoguardin 2; Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD; Belongs to the mitoguardin family. 9606.ENSP00000351141,WTAP,396,"Pre-mRNA-splicing regulator WTAP; Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Required for accumulation of METTL3 and METTL14 to nuclear speckle. Acts as a mRNA splicing regulator. Regulates G2/M cell-cycle transition by binding to the 3' UTR of CCNA2, which enhances its stability. Impairs WT1 DNA-binding ability and inhibits expression of WT1 target genes." 9606.ENSP00000351142,GRM8,908,"Metabotropic glutamate receptor 8; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity." 9606.ENSP00000351147,DCAF4,495,DDB1- and CUL4-associated factor 4; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000351155,ATL1,558,Atlastin-1; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. 9606.ENSP00000351157,TXNDC15,360,Thioredoxin domain-containing protein 15; Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Involved in ciliogenesis. 9606.ENSP00000351159,CNOT3,753,"CCR4-NOT transcription complex subunit 3; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic [...] " 9606.ENSP00000351185,DNA2,1060,"DNA replication ATP-dependent helicase/nuclease DNA2; Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavag [...] " 9606.ENSP00000351190,ITIH2,946,"Inter-alpha-trypsin inhibitor heavy chain H2; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes; Belongs to the ITIH family." 9606.ENSP00000351206,TXLNB,684,Beta-taxilin; Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic; Belongs to the taxilin family. 9606.ENSP00000351207,KIAA1671,1806,Uncharacterized protein KIAA1671; KIAA1671. 9606.ENSP00000351209,EPHA2,976,"Ephrin type-A receptor 2; Receptor tyrosine kinase which binds promiscuously membrane- bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin- A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DS [...] " 9606.ENSP00000351211,OR6C6,314,Olfactory receptor 6C6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000351214,TOMM7,55,Mitochondrial import receptor subunit TOM7 homolog; Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria; Belongs to the Tom7 family. 9606.ENSP00000351232,PDE11A-2,683,Phosphodiesterase 11A. 9606.ENSP00000351244,VN1R2,395,Vomeronasal type-1 receptor 2; Putative pheromone receptor. 9606.ENSP00000351250,TRIM33,1127,"E3 ubiquitin-protein ligase TRIM33; Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as an inhibitor o [...] " 9606.ENSP00000351255,STAT4,748,Signal transducer and activator of transcription 4; Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling. 9606.ENSP00000351273,CASP8,538,"Caspase-8 subunit p10; Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resulting aggregate called death-inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates CASP3, CA [...] " 9606.ENSP00000351280,ZNF429,674,Zinc finger protein 429; May be involved in transcriptional regulation. 9606.ENSP00000351284,RAD52,418,DNA repair protein RAD52 homolog; Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase. 9606.ENSP00000351310,COL6A6,2263,Collagen alpha-6(VI) chain; Collagen VI acts as a cell-binding protein. 9606.ENSP00000351314,PSMB10,273,"Proteasome subunit beta type-10; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides." 9606.ENSP00000351318,PLEKHG1,1385,Pleckstrin homology and RhoGEF domain containing G1. 9606.ENSP00000351325,PATE2,113,Prostate and testis expressed 2. 9606.ENSP00000351327,AKAP4,854,A-kinase anchor protein 4; Major structural component of sperm fibrous sheath. Plays a role in sperm motility; Belongs to the AKAP110 family. 9606.ENSP00000351333,ARHGAP19,494,Rho GTPase-activating protein 19; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000351338,PLXNB1,2135,"Plexin-B1; Receptor for SEMA4D. Plays a role in GABAergic synapse development (By similarity). Mediates SEMA4A- and SEMA4D-dependent inhibitory synapse development (By similarity). Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Belongs to the plexin family." 9606.ENSP00000351342,PTPN5,565,"Tyrosine-protein phosphatase non-receptor type 5; May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors. Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily." 9606.ENSP00000351345,ALKAL1,129,ALK and LTK ligand 1; Ligand for receptor tyrosine kinase LTK and perhaps receptor tyrosine kinase ALK; activation of ALK is reported conflictingly. 9606.ENSP00000351346,VPS13B,4022,Vacuolar protein sorting-associated protein 13B; May be involved in protein sorting in post Golgi membrane traffic; Belongs to the VPS13 family. 9606.ENSP00000351379,PFN3,137,"Profilin-3; Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis. Belongs to the profilin family." 9606.ENSP00000351380,TMA16,203,Translation machinery associated 16 homolog. 9606.ENSP00000351391,ZNF781,327,Zinc finger protein 781; May be involved in transcriptional regulation. 9606.ENSP00000351395,SCGB1D4,83,Secretoglobin family 1D member 4; Seems to be involved in the regulation of chemotactic cell migration and invasion; Belongs to the secretoglobin family. Lipophilin subfamily. 9606.ENSP00000351407,ARNT,789,Aryl hydrocarbon receptor nuclear translocator; Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequ [...] 9606.ENSP00000351416,ANKRD17,2603,"Ankyrin repeat domain-containing protein 17; Could play pivotal roles in cell cycle and DNA regulation. Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways. Involves in NOD2- and NOD1- mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too. Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity)." 9606.ENSP00000351422,REX1BD,201,Required for excision 1-B domain containing. 9606.ENSP00000351430,GYPE,78,Glycophorin-E; This protein is a minor sialoglycoprotein in human erythrocyte membranes; Belongs to the glycophorin-A family. 9606.ENSP00000351446,WDR5,334,"WD repeat-containing protein 5; Contributes to histone modification. May position the N- terminus of histone H3 for efficient trimethylation at 'Lys-4'. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation (By similarity). In association with RBBP5 and ASH2L, stimulates the histone methyltr [...] " 9606.ENSP00000351466,OR5AC2,309,Olfactory receptor 5AC2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000351473,GIMAP5,307,"GTPase IMAP family member 5; Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes (By similarity). Inhibitor of GSK3A, possibly by sequestering GSK3A in cytoplasmic vesicles and impairing its translocation to the nucleus. Consequently, impairs GSK3A-dependent transcriptional program and regulation of the DNA damage response occurring during T cells proliferation. Required for the survival of peripheral T cells, natural killer (NK) and NK T-cell development and the maintenance of normal liver function (By similarity). May promote the [...] " 9606.ENSP00000351475,PASK,1330,"PAS domain-containing serine/threonine-protein kinase; Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in [...] " 9606.ENSP00000351484,NAALADL1,740,"Aminopeptidase NAALADL1; Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the P2' position. Lacks carboxypeptidase activity. Lacks dipeptidyl- peptidase IV type activity. Belongs to the peptidase M28 family. M28B subfamily." 9606.ENSP00000351490,MAX,160,"Protein max; Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements." 9606.ENSP00000351492,UBL5,73,Ubiquitin-like protein 5; Ubiquitin like 5. 9606.ENSP00000351497,FCGR2B,310,"Low affinity immunoglobulin gamma Fc region receptor II-b; Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis." 9606.ENSP00000351520,ENTPD4,616,"Ectonucleoside triphosphate diphosphohydrolase 4; Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP; Belongs to the GDA1/CD39 NTPase family." 9606.ENSP00000351530,ZXDA,799,Zinc finger X-linked protein ZXDA; Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes. 9606.ENSP00000351536,QSOX2,698,Sulfhydryl oxidase 2; Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis. 9606.ENSP00000351539,ZBTB18,531,"Zinc finger and BTB domain-containing protein 18; Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May [...] " 9606.ENSP00000351575,BDP1,2624,Transcription factor TFIIIB component B'' homolog; General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site. 9606.ENSP00000351589,H2AC13,130,"Histone H2A type 1; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000351591,NLGN3,848,"Neuroligin-3; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity); Belongs to the type-B carboxylesterase/lipase family." 9606.ENSP00000351602,FUT4,530,"Alpha-(1,3)-fucosyltransferase 4; May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens." 9606.ENSP00000351605,FZD6,706,"Frizzled-6; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to i [...] " 9606.ENSP00000351614,SYN3,580,Synapsin-3; May be involved in the regulation of neurotransmitter release and synaptogenesis. 9606.ENSP00000351619,PBLD,288,Phenazine biosynthesis like protein domain containing. 9606.ENSP00000351631,FAM76B,339,Protein FAM76B; Family with sequence similarity 76 member B; Belongs to the FAM76 family. 9606.ENSP00000351632,FAM3D,224,Protein FAM3D; FAM3 metabolism regulating signaling molecule D; Belongs to the FAM3 family. 9606.ENSP00000351642,BCAS4,211,Breast carcinoma amplified sequence 4; Belongs to the cappuccino family. 9606.ENSP00000351644,GTPBP3,524,"tRNA modification GTPase GTPBP3, mitochondrial; GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs." 9606.ENSP00000351646,STIP1,590,Stress-induced-phosphoprotein 1; Acts as a co-chaperone for HSP90AA1. Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity). 9606.ENSP00000351669,MANEA,462,"Glycoprotein endo-alpha-1,2-mannosidase; Mannosidase endo-alpha." 9606.ENSP00000351671,CCL20,96,"C-C motif chemokine 20; Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions. The ligand- receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases. CCL20 acts as a chemotactic factor that attracts lymphocytes and, slig [...] " 9606.ENSP00000351682,CNDP1,507,Carnosine dipeptidase 1; Belongs to the peptidase M20A family. 9606.ENSP00000351686,PRDM10,1160,PR domain zinc finger protein 10; May be involved in transcriptional regulation. 9606.ENSP00000351697,REV3L,3130,"DNA polymerase zeta catalytic subunit; Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function." 9606.ENSP00000351706,GK2,553,Glycerol kinase 2; Key enzyme in the regulation of glycerol uptake and metabolism; Belongs to the FGGY kinase family. 9606.ENSP00000351727,CCER1,406,Coiled-coil glutamate rich protein 1. 9606.ENSP00000351732,TMC2,906,Transmembrane channel-like protein 2; Probable ion channel required for the normal function of cochlear hair cells. Component of the hair cell's mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity). 9606.ENSP00000351737,TMEM126B,230,"Complex I assembly factor TMEM126B, mitochondrial; Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. Belongs to the TMEM126 family." 9606.ENSP00000351740,FAM114A1,563,Protein NOXP20; May play a role in neuronal cell development; Belongs to the FAM114 family. 9606.ENSP00000351742,TFEB,490,"Transcription factor EB; Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5'- GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate the [...] " 9606.ENSP00000351767,COL20A1,1284,Collagen alpha-1(XX) chain; Probable collagen protein. 9606.ENSP00000351770,FHAD1,1412,Forkhead-associated domain-containing protein 1; Forkhead associated phosphopeptide binding domain 1. 9606.ENSP00000351777,VCP,806,"Transitional endoplasmic reticulum ATPase; Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is neces [...] " 9606.ENSP00000351789,PELI1,418,E3 ubiquitin-protein ligase pellino homolog 1; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL- 1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation. Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3. Negatively regu [...] 9606.ENSP00000351790,MYPN,1320,"Myopalladin; Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines; Belongs to the myotilin/palladin family." 9606.ENSP00000351807,ELN,786,"Elastin; Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity)." 9606.ENSP00000351811,EDC4,1401,"Enhancer of mRNA-decapping protein 4; In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro)." 9606.ENSP00000351813,MARCHF5,278,"E3 ubiquitin-protein ligase MARCHF5; Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1." 9606.ENSP00000351832,RAB3GAP2,1393,"Rab3 GTPase-activating protein non-catalytic subunit; Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters." 9606.ENSP00000351856,POTEC,542,POTE ankyrin domain family member C. 9606.ENSP00000351884,SPANXC,97,Sperm protein associated with the nucleus on the X chromosome C; SPANX family member C; Belongs to the SPAN-X family. 9606.ENSP00000351905,TGFBR2,592,"TGF-beta receptor type-2; Transmembrane serine/threonine kinase forming with the TGF- beta type I serine/threonine kinase receptor, TGFBR1, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinoge [...] " 9606.ENSP00000351908,MAP3K5,1374,"Mitogen-activated protein kinase kinase kinase 5; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signaling for determination of cell fate such as differentiation and survival. Plays a crucial role in the apoptosis signal transduction pathway through mitochondria-dependent caspase activation. MAP3K5/ASK1 is required for the innate immune response, which is essential for host defense against a wide range of pathogens. Me [...] " 9606.ENSP00000351926,AP2A1,977,"AP-2 complex subunit alpha-1; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold [...] " 9606.ENSP00000351933,KLHL9,617,Kelch-like protein 9; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. 9606.ENSP00000351937,C17orf80,609,Uncharacterized protein C17orf80; Chromosome 17 open reading frame 80. 9606.ENSP00000351947,SMARCAD1,1028,"ATP-dependent helicase 1; DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double- strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restorat [...] " 9606.ENSP00000351957,PDE3A,1141,"cGMP-inhibited 3',5'-cyclic phosphodiesterase A; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes." 9606.ENSP00000351989,SFTA2,78,Surfactant-associated protein 2; Putative surfactant protein. 9606.ENSP00000351990,NAE1,537,"NEDD8-activating enzyme E1 regulatory subunit; Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation." 9606.ENSP00000352011,CACNA1G,2377,"Voltage-dependent T-type calcium channel subunit alpha-1G; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite neg [...] " 9606.ENSP00000352021,NOL12,213,Nucleolar protein 12; May bind to 28S rRNA; Belongs to the RRP17 family. 9606.ENSP00000352035,KCNQ2,872,"Potassium voltage-gated channel subfamily KQT member 2; Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. As the native M-chan [...] " 9606.ENSP00000352039,NLRC3,1065,"NLR family CARD domain-containing protein 3; Negative regulator of the innate immune response. Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating 'Lys-63'-linked ubiquitination and leaving unchanged the degradative 'Lys-48'-lin [...] " 9606.ENSP00000352069,WWP2,870,NEDD4-like E3 ubiquitin-protein ligase WWP2; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T- cells the ubiquitination inhibits activation-induced cell death. Ubiquitinates SLC11A2; the ubiqu [...] 9606.ENSP00000352071,CD163,1156,"Scavenger receptor cysteine-rich type 1 protein M130; Acute phase-regulated receptor involved in clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages and may thereby protect tissues from free hemoglobin-mediated oxidative damage. May play a role in the uptake and recycling of iron, via endocytosis of hemoglobin/haptoglobin and subsequent breakdown of heme. Binds hemoglobin/haptoglobin complexes in a calcium-dependent and pH- dependent manner. Exhibits a higher affinity for complexes of hemoglobin and multimeric haptoglobin of HP*1F phenotype than for complexes o [...] " 9606.ENSP00000352097,SPTSSB,76,"Serine palmitoyltransferase small subunit B; Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference, complexes with this subunit showing a clear preference for longer acyl-CoAs. The SPTLC1-SPTLC2- SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. May play a role in signal transduction." 9606.ENSP00000352111,GOLGA8A,603,Golgin subfamily A member 8A; May be involved in maintaining Golgi structure. 9606.ENSP00000352119,H2AC11,130,H2A clustered histone 11. 9606.ENSP00000352138,KIRREL1,757,Kin of IRRE-like protein 1; Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity); Belongs to the immunoglobulin superfamily. 9606.ENSP00000352162,ELAVL3,367,"ELAV-like protein 3; RNA-binding protein that binds to AU-rich element (ARE) sequences of target mRNAs, including VEGF mRNA. May also bind poly-A tracts via RRM 3 (By similarity). May be involved in neuronal differentiation and maintenance (By similarity). Plays a role in the stabilization of GAP43 mRNA and in spatial learning (By similarity)." 9606.ENSP00000352163,LYPD2,125,LY6/PLAUR domain containing 2. 9606.ENSP00000352167,SLC25A29,303,"Mitochondrial basic amino acids transporter; Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Can restore ornithine transport in cells lacking the primary mitochondrial ornithine transporter SLC25A15. Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms ; Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000352172,VSIG10,540,V-set and immunoglobulin domain containing 10. 9606.ENSP00000352173,PLAC1,212,Placenta-specific protein 1; May play a role in placental development. Belongs to the PLAC1 family. 9606.ENSP00000352182,FAM86C1,165,Protein FAM86C1. 9606.ENSP00000352185,PHF2,1096,"Lysine-specific demethylase PHF2; Lysine demethylase that demethylates both histones and non- histone proteins. Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B. Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethy [...] " 9606.ENSP00000352208,MYOF,2061,Myoferlin; Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity). 9606.ENSP00000352216,SLC2A10,541,"Solute carrier family 2, facilitated glucose transporter member 10; Facilitative glucose transporter required for the development of the cardiovascular system; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily." 9606.ENSP00000352233,ZNF705A,300,Zinc finger protein 705A; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000352248,ANXA10,324,Annexin A10. 9606.ENSP00000352252,H3C12,136,"Histone H3.1; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000352257,XRCC6,609,X-ray repair cross-complementing protein 6; Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic s [...] 9606.ENSP00000352264,CD2AP,639,"CD2-associated protein; Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glom [...] " 9606.ENSP00000352265,TPGS1,290,Tubulin polyglutamylase complex subunit 1; May act in the targeting of the tubulin polyglutamylase complex. Required for the development of the spermatid flagellum (By similarity). 9606.ENSP00000352268,AADACL3,407,Arylacetamide deacetylase like 3; Belongs to the 'GDXG' lipolytic enzyme family. 9606.ENSP00000352271,XRCC2,280,"DNA repair protein XRCC2; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single [...] " 9606.ENSP00000352272,MYOZ1,299,"Myozenin-1; Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis." 9606.ENSP00000352282,KLHDC1,406,Kelch domain containing 1. 9606.ENSP00000352284,TMEM139,216,Transmembrane protein 139; May be involved in cellular trafficking of proteins such as SLC4A1. 9606.ENSP00000352288,PLXNB2,1838,"Plexin-B2; Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signaling (By similarity). Plays a role in glutamatergic synapse development and is required for SEMA4A- mediated excitatory synapse development (By similarity). Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248' (By similarity). Required for normal differentiation and migration of neuronal cells during brain corticogenesis and for normal embryonic brain development (By similarity). Regulates the migration of cerebellar g [...] " 9606.ENSP00000352295,CGB2,163,Chorionic gonadotropin subunit beta 2. 9606.ENSP00000352299,SLFNL1,407,Schlafen-like protein 1; Schlafen like 1. 9606.ENSP00000352314,KLHL14,628,Kelch-like protein 14; Kelch like family member 14. 9606.ENSP00000352358,TRPV6,765,"Transient receptor potential cation channel subfamily V member 6; Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine. Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vit [...] " 9606.ENSP00000352400,NUP214,2090,Nuclear pore complex protein Nup214; Has a critical role in nucleocytoplasmic transport. May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. 9606.ENSP00000352401,RPE,228,Ribulose-phosphate 3-epimerase; Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate. 9606.ENSP00000352408,BABAM1,329,"BRISC and BRCA1-A complex member 1; Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'- linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cl [...] " 9606.ENSP00000352413,TMC3,1100,Transmembrane channel-like protein 3; Probable ion channel. 9606.ENSP00000352414,FGF17,216,Fibroblast growth factor 17; Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development. 9606.ENSP00000352420,LDLRAD4,306,"Low-density lipoprotein receptor class A domain-containing protein 4; Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. [...] " 9606.ENSP00000352424,TIAF1,115,"TGFB1-induced anti-apoptotic factor 1; Inhibits the cytotoxic effects of TNF-alpha and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation." 9606.ENSP00000352427,RGR,295,RPE-retinal G protein-coupled receptor; Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism. 9606.ENSP00000352438,PCBP2,366,"Poly(rC)-binding protein 2; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Major cellular poly(rC)-binding protein. Binds also poly(rU). Negatively regulates cellular antiviral responses mediated by MAVS signaling. It acts as an adapter between MAVS and the E3 ubiquitin ligase ITCH, therefore triggering MAVS ubiquitination and degradation." 9606.ENSP00000352444,ZNF33B,778,Zinc finger protein 33B; May be involved in transcriptional regulation. 9606.ENSP00000352447,C1orf116,601,Specifically androgen-regulated gene protein; Putative androgen-specific receptor. Belongs to the SARG family. 9606.ENSP00000352455,MFAP5,173,"Microfibrillar-associated protein 5; May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils." 9606.ENSP00000352458,PLGLB2,96,Plasminogen like B2. 9606.ENSP00000352463,TCF20,1960,"Transcription factor 20; Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator." 9606.ENSP00000352510,TECPR2,1411,Tectonin beta-propeller repeat-containing protein 2; Probably plays a role as positive regulator of autophagy. Belongs to the WD repeat KIAA0329 family. 9606.ENSP00000352513,MPZL1,269,"Myelin protein zero-like protein 1; Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases. Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility." 9606.ENSP00000352516,DNMT1,1632,"DNA (cytosine-5)-methyltransferase 1; Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In a [...] " 9606.ENSP00000352522,ATP6V1H,483,"V-type proton ATPase subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes." 9606.ENSP00000352527,KCNK5,499,"Potassium channel subfamily K member 5; pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations." 9606.ENSP00000352536,GTF3C2,911,General transcription factor 3C polypeptide 2; Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. May play a direct role in stabilizing interactions of TFIIIC2 with TFIIIC1. 9606.ENSP00000352540,EMP2,167,"Epithelial membrane protein 2; Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation. Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cyto [...] " 9606.ENSP00000352544,CPLX2,134,"Complexin-2; Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Also involved in mast cell exocytosis (By similarity). Belongs to the complexin/synaphin family." 9606.ENSP00000352561,CALCR,508,Calcitonin receptor; This is a receptor for calcitonin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin; Belongs to the G-protein coupled receptor 2 family. 9606.ENSP00000352565,HAND2,217,"Heart- and neural crest derivatives-expressed protein 2; Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior- posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the he [...] " 9606.ENSP00000352572,PCNT,3336,"Pericentrin; Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome." 9606.ENSP00000352584,AKR1B10,316,"Aldo-keto reductase family 1 member B10; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays strong enzymatic activity toward all-trans- retinal, 9-cis-retinal, and 13-cis-retinal. Plays a critical role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4- hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls). Displays no reductase activity towards glucose." 9606.ENSP00000352601,LRP10,713,"Low-density lipoprotein receptor-related protein 10; Probable receptor, which is involved in the internalization of lipophilic molecules and/or signal transduction. May be involved in the uptake of lipoprotein APOE in liver (By similarity); Belongs to the LDLR family." 9606.ENSP00000352604,OR2T3,318,Olfactory receptor 2T3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000352608,RYR1,5038,"Ryanodine receptor 1; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for nor [...] " 9606.ENSP00000352614,ZSWIM5,1185,Zinc finger SWIM-type containing 5. 9606.ENSP00000352626,OR6K2,324,Olfactory receptor 6K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000352627,H2AC17,130,H2A clustered histone 17. 9606.ENSP00000352639,CELA2A,269,Chymotrypsin-like elastase family member 2A; Acts upon elastin. 9606.ENSP00000352642,LRRC61,259,Leucine-rich repeat-containing protein 61; Leucine rich repeat containing 61. 9606.ENSP00000352645,TYW1,732,"S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1; Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity)." 9606.ENSP00000352672,PGLYRP4,373,"Peptidoglycan recognition protein 4; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity." 9606.ENSP00000352673,ELF3,371,"ETS-related transcription factor Elf-3; Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. May be a critical downstream effec [...] " 9606.ENSP00000352676,ZRANB1,708,"Ubiquitin thioesterase ZRANB1; Specifically hydrolyzes 'Lys-29'-linked and 'Lys-33'-linked diubiquitin. Also cleaves 'Lys-63'-linked chains, but with 40-fold less efficiency compared to 'Lys-29'-linked ones. Positive regulator of the Wnt signaling pathway that deubiquitinates APC protein, a negative regulator of Wnt-mediated transcription. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the stress fiber dynamics and cell migration. May also modulate TNF-alpha signaling; Belongs to the peptidase C64 family." 9606.ENSP00000352678,SUPV3L1,786,"ATP-dependent RNA helicase SUPV3L1, mitochondrial; Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules. ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; reg [...] " 9606.ENSP00000352706,HIBCH,386,"3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA." 9606.ENSP00000352738,G3BP2,482,Ras GTPase-activating protein-binding protein 2; Scaffold protein that plays an essential role in cytoplasmic stress granule formation which acts as a platform for antiviral signaling. 9606.ENSP00000352785,DSG4,1059,Desmoglein-4; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). 9606.ENSP00000352798,COL18A1,1754,Collagen alpha-1(XVIII) chain; Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. Endostatin: Potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner [...] 9606.ENSP00000352821,ZDHHC14,488,Probable palmitoyltransferase ZDHHC14; Zinc finger DHHC-type palmitoyltransferase 14; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. 9606.ENSP00000352833,PTPN22,807,"Tyrosine-protein phosphatase non-receptor type 22; Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator SKAP2. Positively regulates toll-like receptor (TLR)-induced type 1 interferon production. Promotes host [...] " 9606.ENSP00000352835,MB,154,Myoglobin; Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles. 9606.ENSP00000352836,ZNF675,568,Zinc finger protein 675; May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity. 9606.ENSP00000352846,ZNF808,903,Zinc finger protein 808; May be involved in transcriptional regulation. 9606.ENSP00000352849,SIRPB2,342,Signal-regulatory protein beta-2; Signal regulatory protein beta 2. 9606.ENSP00000352882,PLXNA4,1894,"Plexin-A4; Coreceptor for SEMA3A. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity)." 9606.ENSP00000352900,RXRG,463,"Retinoic acid receptor RXR-gamma; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid (By similarity)." 9606.ENSP00000352904,NT5C1B,610,Cytosolic 5'-nucleotidase 1B; Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity). 9606.ENSP00000352925,TRRAP,3859,"Transformation/transcription domain-associated protein; Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4- mediated transcription activation. Also involved in transcription act [...] " 9606.ENSP00000352926,TEAD4,434,"Transcriptional enhancer factor TEF-3; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] " 9606.ENSP00000352927,MTCL1,1586,Microtubule cross-linking factor 1; Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation. Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells. Belongs to the SOGA family. 9606.ENSP00000352928,DDA1,102,DET1- and DDB1-associated protein 1; May be involved in ubiquitination and subsequent proteasomal degradation of target proteins. Component of the DDD-E2 complexes which may provide a platform for interaction with CUL4A and WD repeat proteins. 9606.ENSP00000352936,SPINK5,1094,"Serine protease inhibitor Kazal-type 5; Serine protease inhibitor, probably important for the anti- inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation- involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin." 9606.ENSP00000352941,KCTD18,426,BTB/POZ domain-containing protein KCTD18; Potassium channel tetramerization domain containing 18. 9606.ENSP00000352956,RBM23,439,Probable RNA-binding protein 23; Probable RNA-binding protein. May be involved in pre-mRNA splicing process; Belongs to the splicing factor SR family. 9606.ENSP00000352962,PLPPR3,746,Phospholipid phosphatase-related protein type 3; Phospholipid phosphatase related 3. 9606.ENSP00000352992,ART5,291,ADP-ribosyltransferase 5. 9606.ENSP00000353007,SULF2,870,Extracellular sulfatase Sulf-2; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C- 6 position of glucosamine within specific subregions of intact heparin; Belongs to the sulfatase family. 9606.ENSP00000353010,ATG2B,2078,Autophagy-related protein 2 homolog B; Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion; Belongs to the ATG2 family. 9606.ENSP00000353013,CLEC14A,490,C-type lectin domain containing 14A. 9606.ENSP00000353025,FAM3C,227,Protein FAM3C; May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition. 9606.ENSP00000353030,PTPRF,1907,Receptor-type tyrosine-protein phosphatase F; Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity. 9606.ENSP00000353032,P2RX4,404,P2X purinoceptor 4; Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin. 9606.ENSP00000353048,CCT8L2,557,T-complex protein 1 subunit theta-like 2; Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis; Belongs to the TCP-1 chaperonin family. 9606.ENSP00000353058,ZNF517,492,Zinc finger protein 517; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000353072,ATP2A3,1052,Sarcoplasmic/endoplasmic reticulum calcium ATPase 3; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. 9606.ENSP00000353098,MCMBP,642,"Mini-chromosome maintenance complex-binding protein; Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion." 9606.ENSP00000353099,HLA-DRB1,266,"HLA class II histocompatibility antigen, DRB1 beta chain; A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA- DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4-positive T cells. This guides antigen-specific T helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells. Typically presents extracellula [...] " 9606.ENSP00000353104,DHDDS,334,"Dehydrodolichyl diphosphate synthase complex subunit DHDDS; With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stabilit [...] " 9606.ENSP00000353114,AHNAK2,5795,AHNAK nucleoprotein 2. 9606.ENSP00000353128,DCAF12L2,463,DDB1- and CUL4-associated factor 12-like protein 2; DDB1 and CUL4 associated factor 12 like 2; Belongs to the WD repeat DCAF12 family. 9606.ENSP00000353129,KCTD8,473,BTB/POZ domain-containing protein KCTD8; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). 9606.ENSP00000353132,DMBX1,377,Diencephalon/mesencephalon homeobox protein 1; Functions as a transcriptional repressor. May repress OTX2- mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development (By similarity); Belongs to the paired homeobox family. 9606.ENSP00000353142,GAL3ST4,486,"Galactose-3-O-sulfotransferase 4; Catalyzes the transfer of sulfate to beta-1,3-linked galactose residues in O-linked glycoproteins. Good substrates include asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta- 1,6)GalNAc." 9606.ENSP00000353165,TPK1,243,Thiamin pyrophosphokinase 1; Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. 9606.ENSP00000353198,PYY,97,"Peptide YY(3-36); This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility." 9606.ENSP00000353203,LCE1B,118,Late cornified envelope protein 1B; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000353245,C17orf97,423,Protein LIAT1; May be involved in ATE1-mediated N-terminal arginylation. 9606.ENSP00000353246,MAK16,300,MAK16 homolog. 9606.ENSP00000353249,AGBL5,886,"Cytosolic carboxypeptidase-like protein 5; Metallocarboxypeptidase that mediates protein deglutamylation. Specifically catalyzes the deglutamylation of the branching point glutamate side chains generated by post-translational glutamylation in proteins such as tubulins. In contrast, it is not able to act as a long-chain deglutamylase that shortens long polyglutamate chains, a process catalyzed by AGTPBP1/CCP1, AGBL2/CCP2, AGBL3/CCP3, AGBL1/CCP4 and AGBL4/CCP6. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS." 9606.ENSP00000353259,CD300A,299,"CMRF35-like molecule 8; Inhibitory receptor which may contribute to the down- regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation. Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6. Belongs to the CD300 family." 9606.ENSP00000353270,ERGIC2,377,Endoplasmic reticulum-Golgi intermediate compartment protein 2; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the ERGIC family. 9606.ENSP00000353284,DDX3Y,660,"ATP-dependent RNA helicase DDX3Y; Probable ATP-dependent RNA helicase. During immune response, may enhance IFNB1 expression via IRF3/IRF7 pathway (By similarity). Belongs to the DEAD box helicase family. DDX3/DED1 subfamily." 9606.ENSP00000353292,SCNN1A,728,"Amiloride-sensitive sodium channel subunit alpha; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception." 9606.ENSP00000353295,CBWD3,395,COBW domain containing 3. 9606.ENSP00000353331,KIRREL2,708,Kin of IRRE-like protein 2; May regulate basal insulin secretion. Belongs to the immunoglobulin superfamily. 9606.ENSP00000353332,RTEL1,1300,"Regulator of telomere elongation helicase 1; ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by [...] " 9606.ENSP00000353343,OR52M1,317,Olfactory receptor 52M1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000353344,ETS2,469,Protein C-ets-2; Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription. 9606.ENSP00000353375,MAP4,1152,Microtubule-associated protein 4; Non-neuronal microtubule-associated protein. Promotes microtubule assembly. 9606.ENSP00000353377,CCDC102B,513,Coiled-coil domain containing 102B. 9606.ENSP00000353379,MAGEA4,317,"Melanoma-associated antigen 4; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression." 9606.ENSP00000353393,F8,2351,"Factor VIIIa heavy chain, 200 kDa isoform; Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa." 9606.ENSP00000353401,CUX1,1516,"Homeobox protein cut-like 1; Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heav [...] " 9606.ENSP00000353408,MSN,577,"Moesin; Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton. Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement. These rearrangements regulate many cellular processes, including cell shape determination, membrane [...] " 9606.ENSP00000353414,ATP2B2,1243,Plasma membrane calcium-transporting ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. 9606.ENSP00000353422,VPS13A,3174,"Vacuolar protein sorting-associated protein 13A; May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane." 9606.ENSP00000353444,RAB5B,215,Ras-related protein Rab-5B; Protein transport. Probably involved in vesicular traffic (By similarity). 9606.ENSP00000353452,MYLK,1914,"Myosin light chain kinase, smooth muscle, deglutamylated form; Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessa [...] " 9606.ENSP00000353462,CASS4,786,"Cas scaffolding protein family member 4; Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading." 9606.ENSP00000353470,C20orf96,363,Uncharacterized protein C20orf96; Chromosome 20 open reading frame 96. 9606.ENSP00000353475,CLDN7,211,Claudin-7; Plays a major role in tight junction-specific obliteration of the intercellular space; Belongs to the claudin family. 9606.ENSP00000353491,ZNF460,562,Zinc finger protein 460; May be involved in transcriptional regulation. 9606.ENSP00000353496,LZTS3,627,"Leucine zipper putative tumor suppressor 3; May be involved in promoting the maturation of dendritic spines, probably via regulating SIPA1L1 levels at the postsynaptic density of synapses; Belongs to the LZTS3 family." 9606.ENSP00000353508,MAP2,1827,Microtubule-associated protein 2; The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules. 9606.ENSP00000353512,PARP9,854,"Protein mono-ADP-ribosyltransferase PARP9; ADP-ribosyltransferase which, in association with E3 ligase DTX3L, plays a role in DNA damage repair and in immune responses including interferon-mediated antiviral defenses. Within the complex, enhances DTX3L E3 ligase activity which is further enhanced by PARP9 binding to poly(ADP-ribose). In association with DTX3L and in presence of E1 and E2 enzymes, mediates NAD(+)-dependent mono-ADP-ribosylation of ubiquitin which prevents ubiquitin conjugation to substrates such as histones. During DNA repair, PARP1 recruits PARP9/BAL1-DTX3L complex to [...] " 9606.ENSP00000353516,OR2W3,314,Olfactory receptor 2W3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000353518,ANKS1A,1134,Ankyrin repeat and SAM domain-containing protein 1A; Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity). 9606.ENSP00000353537,OR5B21,309,Olfactory receptor 5B21; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000353538,LRRCC1,1032,Leucine-rich repeat and coiled-coil domain-containing protein 1; Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis. 9606.ENSP00000353557,SLC35F1,408,Solute carrier family 35 member F1; Putative solute transporter. 9606.ENSP00000353575,EIF2B3,452,Translation initiation factor eIF-2B subunit gamma; Catalyzes the exchange of eukaryotic initiation factor 2- bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family. 9606.ENSP00000353582,NRP2,931,"Neuropilin-2; High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF." 9606.ENSP00000353590,MYH10,2007,"Myosin-10; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family." 9606.ENSP00000353600,SULT1A4,295,"Sulfotransferase 1A3; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs." 9606.ENSP00000353608,DSC3,896,Desmocollin-3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. 9606.ENSP00000353639,CLPSL2,153,Colipase-like protein 2; Colipase like 2. 9606.ENSP00000353646,PLEKHG4,1191,Puratrophin-1; Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi. 9606.ENSP00000353650,FABP12,140,Fatty acid-binding protein 12; May play a role in lipid transport. 9606.ENSP00000353652,ZNF528,628,Zinc finger protein 528; May be involved in transcriptional regulation. 9606.ENSP00000353654,COL4A2,1712,"Collagen alpha-2(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen." 9606.ENSP00000353670,SPOCD1,1216,SPOC domain containing 1. 9606.ENSP00000353717,CCDC144A,1427,Coiled-coil domain containing 144A. 9606.ENSP00000353720,CES1,568,"Liver carboxylesterase 1; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate. Belongs to the type-B carboxylesterase/lipase family." 9606.ENSP00000353731,DPP4,766,"Dipeptidyl peptidase 4 membrane form; Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T- cell activation. Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC. Its binding to CAV1 and CARD11 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion. In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the mi [...] " 9606.ENSP00000353732,CLIP3,547,"CAP-Gly domain-containing linker protein 3; Functions as a cytoplasmic linker protein. Involved in TGN- endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes." 9606.ENSP00000353734,PLAGL1,463,Zinc finger protein PLAGL1; Acts as a transcriptional activator. Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide. 9606.ENSP00000353735,TOPORS,1045,"E3 ubiquitin-protein ligase Topors; Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation." 9606.ENSP00000353739,PCMTD1,357,protein-L-isoaspartate O-methyltransferase domain containing 1. 9606.ENSP00000353741,ETF1,437,"Eukaryotic peptide chain release factor subunit 1; Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular genes." 9606.ENSP00000353742,KRTAP26-1,210,"Keratin-associated protein 26-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family." 9606.ENSP00000353767,MMP17,603,"Matrix metalloproteinase-17; Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin." 9606.ENSP00000353769,SCAF1,1312,"Splicing factor, arginine/serine-rich 19; May function in pre-mRNA splicing." 9606.ENSP00000353770,RRM2,449,Ribonucleoside-diphosphate reductase subunit M2; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling; Belongs to the ribonucleoside diphosphate reductase small chain family. 9606.ENSP00000353785,TPPP,219,"Tubulin polymerization-promoting protein; Regulator of microtubule dynamics that plays a key role in myelination by promoting elongation of the myelin sheath. Acts as a microtubule nucleation factor in oligodendrocytes: specifically localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, and promotes microtubule nucleation, an important step for elongation of the myelin sheath. Required for both uniform polarized growth of distal microtubules as well as directing the branching of proximal processes. Shows magnesium-dependent GTPase activity; the role of the GTPa [...] " 9606.ENSP00000353791,SLC6A9,706,Sodium- and chloride-dependent glycine transporter 1; Terminates the action of glycine by its high affinity sodium- dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission. 9606.ENSP00000353793,WDHD1,1129,WD repeat and HMG-box DNA-binding protein 1; Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. 9606.ENSP00000353794,FBXL22,247,F-box and leucine-rich protein 22; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC). 9606.ENSP00000353796,ANKRD53,530,Ankyrin repeat domain-containing protein 53; Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization. 9606.ENSP00000353824,PIM3,326,"Serine/threonine-protein kinase pim-3; Proto-oncogene with serine/threonine kinase activity that can prevent apoptosis, promote cell survival and protein translation. May contribute to tumorigenesis through: the delivery of survival signaling through phosphorylation of BAD which induces release of the anti- apoptotic protein Bcl-X(L), the regulation of cell cycle progression, protein synthesis and by regulation of MYC transcriptional activity. Additionally to this role on tumorigenesis, can also negatively regulate insulin secretion by inhibiting the activation of MAPK1/3 (ERK1/2), thr [...] " 9606.ENSP00000353826,LONP1,959,"Lon protease homolog, mitochondrial; ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand- specific manner. May regulate mi [...] " 9606.ENSP00000353846,DCLK1,740,Serine/threonine-protein kinase DCLK1; Probable kinase that may be involved in a calcium-signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. 9606.ENSP00000353850,ITGB1BP1,200,"Integrin beta-1-binding protein 1; Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling [...] " 9606.ENSP00000353854,C15orf39,1047,Uncharacterized protein C15orf39; Chromosome 15 open reading frame 39. 9606.ENSP00000353863,ZNF148,794,"Zinc finger protein 148; Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes." 9606.ENSP00000353864,PAK3,580,"Serine/threonine-protein kinase PAK 3; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstrea [...] " 9606.ENSP00000353868,PCED1A,454,PC-esterase domain containing 1A; Belongs to the PC-esterase family. 9606.ENSP00000353874,TLR9,1032,"Toll-like receptor 9; Key component of innate and adaptive immunity. TLRs (Toll- like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine- phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and [...] " 9606.ENSP00000353893,LGALS14,168,Placental protein 13-like; Binds beta-galactoside and lactose. Strong inducer of T-cell apoptosis. 9606.ENSP00000353904,CSNK1G3,455,Casein kinase I isoform gamma-3; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). 9606.ENSP00000353910,FUT8,575,"Alpha-(1,6)-fucosyltransferase; Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans. Belongs to the glycosyltransferase 23 family." 9606.ENSP00000353915,HTR4,428,"5-hydroxytryptamine receptor 4; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000353920,ADARB1,741,Double-stranded RNA-specific editase 1; Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependen [...] 9606.ENSP00000353922,ZNF711,807,"Zinc finger protein 711; Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C. Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000353942,DRC7,874,Dynein regulatory complex subunit 7; Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Involved in the regulation of flagellar motility. 9606.ENSP00000353959,CLIC6,704,"Chloride intracellular channel protein 6; May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity)." 9606.ENSP00000354001,KRTAP12-2,146,"Keratin-associated protein 12-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family." 9606.ENSP00000354003,GYPA,150,"Glycophorin-A; Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane. Is a receptor for influenza virus. Is a receptor for Plasmodium falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans. Appears to be a receptor for [...] " 9606.ENSP00000354006,TRPM6,2022,Transient receptor potential cation channel subfamily M member 6; Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region; In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily. 9606.ENSP00000354032,BSCL2,462,Seipin; Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. 9606.ENSP00000354039,UBAP2,1119,Ubiquitin associated protein 2. 9606.ENSP00000354040,GTPBP4,634,Nucleolar GTP-binding protein 1; Involved in the biogenesis of the 60S ribosomal subunit. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NOG subfamily. 9606.ENSP00000354053,GLT8D2,349,Glycosyltransferase 8 domain containing 2. 9606.ENSP00000354080,SCUBE1,988,"Signal peptide, CUB and EGF-like domain-containing protein 1; Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology." 9606.ENSP00000354085,ANKHD1,2542,Ankyrin repeat and KH domain-containing protein 1; May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. Belongs to the mask family. 9606.ENSP00000354090,SIGLEC14,396,Sialic acid-binding Ig-like lectin 14; Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. 9606.ENSP00000354091,GNL3L,582,"Guanine nucleotide-binding protein-like 3-like protein; Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal proces [...] " 9606.ENSP00000354109,RGS22,1264,Regulator of G-protein signaling 22; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. 9606.ENSP00000354111,DNAJC5,198,DnaJ homolog subfamily C member 5; Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity). 9606.ENSP00000354125,EIF3B,814,"Eukaryotic translation initiation factor 3 subunit B; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...] " 9606.ENSP00000354152,MTHFSD,383,Methenyltetrahydrofolate synthase domain-containing protein; Methenyltetrahydrofolate synthetase domain containing. 9606.ENSP00000354158,ERC1,1116,ELKS/Rab6-interacting/CAST family member 1; Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. 9606.ENSP00000354163,FAM110A,295,Protein FAM110A; Family with sequence similarity 110 member A; Belongs to the FAM110 family. 9606.ENSP00000354201,UBE2Z,354,"Ubiquitin-conjugating enzyme E2 Z; Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation." 9606.ENSP00000354204,TOMM20L,152,TOMM20-like protein 1; Translocase of outer mitochondrial membrane 20 like. 9606.ENSP00000354206,ZNF219,722,"Zinc finger protein 219; Transcriptional regulator. Recognizes and binds 2 copies of the core DNA sequence motif 5'-GGGGG- 3'. Binds to the HMGN1 promoter and may repress HMGN1 expression. Regulates SNCA expression in primary cortical neurons. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with SOX9 (By similarity). Plays a role in chondrocyte differentiation (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000354207,NTRK3,839,"NT-3 growth factor receptor; Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation." 9606.ENSP00000354213,HS3ST3B1,390,"Heparan sulfate glucosamine 3-O-sulfotransferase 3B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to antico [...] " 9606.ENSP00000354218,PPP1R13L,828,"RelA-associated inhibitor; Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis." 9606.ENSP00000354223,MPC1,109,Mitochondrial pyruvate carrier 1; Mediates the uptake of pyruvate into mitochondria. Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family. 9606.ENSP00000354227,C11orf80,677,"Type 2 DNA topoisomerase 6 subunit B-like; [Isoform 3]: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles." 9606.ENSP00000354251,NCKAP1,1134,"Nck-associated protein 1; Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes." 9606.ENSP00000354255,CPZ,652,"Carboxypeptidase Z; Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing." 9606.ENSP00000354280,PRSS3,304,Trypsin-3; Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors. Belongs to the peptidase S1 family. 9606.ENSP00000354294,CTRB1,263,Chymotrypsinogen B1; Belongs to the peptidase S1 family. 9606.ENSP00000354305,ZSCAN12,604,Zinc finger and SCAN domain-containing protein 12; May be involved in transcriptional regulation. 9606.ENSP00000354312,TMEM239,195,Transmembrane protein 239. 9606.ENSP00000354314,HAO2,364,"Hydroxyacid oxidase 2; Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids; Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family." 9606.ENSP00000354335,MPEG1,716,"Macrophage-expressed gene 1 protein; Plays a key role in the innate immune response following bacterial infection by inserting into the bacterial surface to form pores (By similarity). By breaching the surface of phagocytosed bacteria, allows antimicrobial effectors to enter the bacterial periplasmic space and degrade bacterial proteins such as superoxide dismutase sodC which contributes to bacterial virulence (By similarity). Shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria. Reduces the viability of the intracytosolic pathogen [...] " 9606.ENSP00000354340,UBA3,463,"NEDD8-activating enzyme E1 catalytic subunit; Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down- regulates steroid receptor activity. Necessary for cell cycle progression." 9606.ENSP00000354346,MATR3-2,847,"Matrin-3; May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. May bind to specific miRNA hairpins." 9606.ENSP00000354357,GSTM3,225,Glutathione S-transferase Mu 3; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers; Belongs to the GST superfamily. Mu family. 9606.ENSP00000354360,LAMC3,1575,"Laminin subunit gamma-3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000354361,RFWD3,774,"E3 ubiquitin-protein ligase RFWD3; E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage. Plays a key role in RPA-mediated DNA damage signaling and repair. Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination. Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA [...] " 9606.ENSP00000354376,RAB25,213,"Ras-related protein Rab-25; Involved in the regulation of cell survival. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia. Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (By similarity). May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis (By similarity). ECO:0000250|UniProtKB:P46629, ECO:0000250|UniProtKB:Q9WTL2,; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000354377,ZNF37A,561,Zinc finger protein 37A; May be involved in transcriptional regulation. 9606.ENSP00000354394,STAT1,750,"Signal transducer and activator of transcription 1-alpha/beta; Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF [...] " 9606.ENSP00000354412,SLFN12L,617,Schlafen family member 12 like; Belongs to the Schlafen family. 9606.ENSP00000354414,ZNF627,461,Zinc finger protein 627; May be involved in transcriptional regulation. 9606.ENSP00000354416,CCL28,127,"C-C motif chemokine 28; Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner." 9606.ENSP00000354432,ANKRD30A,1341,Ankyrin repeat domain 30A. 9606.ENSP00000354441,TMEM184B,407,Transmembrane protein 184B; May activate the MAP kinase signaling pathway. Belongs to the TMEM184 family. 9606.ENSP00000354451,IQGAP3,1631,Ras GTPase-activating-like protein IQGAP3; IQ motif containing GTPase activating protein 3. 9606.ENSP00000354453,ZFP2,461,Zinc finger protein 2 homolog; Probable transcription factor involved in neuronal differentiation and/or phenotypic maintenance. 9606.ENSP00000354458,C8A,584,"Complement component C8 alpha chain; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself. Belongs to the complement C6/C7/C8/C9 family." 9606.ENSP00000354461,PHETA1,262,"Sesquipedalian-1; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane." 9606.ENSP00000354468,CYB5R3,334,"NADH-cytochrome b5 reductase 3 membrane-bound form; Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction." 9606.ENSP00000354476,SREBF2,1141,Processed sterol regulatory element-binding protein 2; Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5'- ATCACCCCAC-3') found in the flanking region of the LDRL and HMG-CoA synthase genes. 9606.ENSP00000354478,DLX1,255,"Homeobox protein DLX-1; Plays a role as a transcriptional activator or repressor. Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofac [...] " 9606.ENSP00000354481,BRINP2,783,BMP/retinoic acid-inducible neural-specific protein 2; Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. 9606.ENSP00000354483,DUSP27,1158,Inactive dual specificity phosphatase 27; May be required for myofiber maturation. Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily. 9606.ENSP00000354487,ZEB1,1125,Zinc finger E-box-binding homeobox 1; Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG [...] 9606.ENSP00000354488,TNNI1,187,"Troponin I, slow skeletal muscle; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity." 9606.ENSP00000354490,ATP1A2,1020,"Sodium/potassium-transporting ATPase subunit alpha-2; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily." 9606.ENSP00000354497,FAN1,1017,"Fanconi-associated nuclease 1; Nuclease required for the repair of DNA interstrand cross- links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection. Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Pro [...] " 9606.ENSP00000354498,PHLDB1,1377,Pleckstrin homology like domain family B member 1. 9606.ENSP00000354499,MT-CO1,513,"Cytochrome c oxidase subunit 1; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...] " 9606.ENSP00000354501,ZNF277,450,Zinc finger protein 277; May be involved in transcriptional regulation; Belongs to the ZNF277 family. 9606.ENSP00000354504,ASTN2,1288,"Astrotactin-2; Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5- bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5- tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup." 9606.ENSP00000354511,COMT,271,"Catechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol; Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family." 9606.ENSP00000354518,ZNF830,372,"Zinc finger protein 830; May play a role in pre-mRNA splicing as component of the spliceosome. Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth [...] " 9606.ENSP00000354522,TOP1,765,"DNA topoisomerase 1; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus remo [...] " 9606.ENSP00000354525,MRPL24,216,Mitochondrial ribosomal protein L24; Belongs to the universal ribosomal protein uL24 family. 9606.ENSP00000354532,PNP,289,"Purine nucleoside phosphorylase; The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta- (deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate." 9606.ENSP00000354536,ASTN1,1294,"Astrotactin-1; Neuronal adhesion molecule that is required for normal migration of young postmitotic neuroblasts along glial fibers, especially in the cerebellum. Required for normal rate of migration of granule cells during brain development and for normal cerebellum development; Belongs to the astrotactin family." 9606.ENSP00000354543,TSC22D2,780,TSC22 domain family member 2. 9606.ENSP00000354547,ZFP69B,534,Zinc finger protein 69 homolog B; May be involved in transcriptional regulation. Essential for Golgi structural integrity. 9606.ENSP00000354553,GLMP,406,Glycosylated lysosomal membrane protein; Belongs to the GLMP family. 9606.ENSP00000354554,MT-CYB,380,Cytochrome b; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis. 9606.ENSP00000354558,MTOR,2549,"Serine/threonine-protein kinase mTOR; Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals. MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. This includes phosphorylation of EIF [...] " 9606.ENSP00000354560,KIFAP3,792,Kinesin-associated protein 3; Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity). 9606.ENSP00000354566,CD3E,207,"T-cell surface glycoprotein CD3 epsilon chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR- mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation o [...] " 9606.ENSP00000354571,RNF121,327,Ring finger protein 121; Belongs to the RNF121 family. 9606.ENSP00000354573,MACF1,5430,"Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5; [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling [...] " 9606.ENSP00000354580,MRPL21,205,Mitochondrial ribosomal protein L21. 9606.ENSP00000354581,GPX6,221,Glutathione peroxidase 6. 9606.ENSP00000354583,MFAP3L,409,Microfibrillar-associated protein 3-like; May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis. 9606.ENSP00000354590,SFT2D1,159,Vesicle transport protein SFT2A; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex. Belongs to the SFT2 family. 9606.ENSP00000354597,DENND4B,1496,"DENN domain-containing protein 4B; Guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP- bound Rab proteins into their active GTP-bound form." 9606.ENSP00000354607,FZD5,585,"Frizzled-5; Receptor for Wnt proteins. Can activate WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 (in vitro); the in vivo situation may be different since not all of these are known to be coexpressed (By similarity). In neurons, activation of WNT7A promotes formation of synapses. Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). A second signaling pathway involving [...] " 9606.ENSP00000354608,PPT2,308,"Lysosomal thioesterase PPT2; Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S-thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins." 9606.ENSP00000354610,AMY2B,511,Amylase alpha 2B; Belongs to the glycosyl hydrolase 13 family. 9606.ENSP00000354612,PTGS1,599,"Prostaglandin G/H synthase 1; Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis. Involved in the constitutive production of prostanoids in particular in the stomach and platelets. In gastric epithelial cells, it is a key step in the generation of prostaglandins, such as prostaglandin E2 (PGE2), which plays an important role in cytoprotection. In platelets, it is involved in the generation of thromboxane A2 (TXA2), which promotes platelet activation and aggregation, vasoconstriction and proliferation of vascular smooth muscle cells; Belongs to th [...] " 9606.ENSP00000354621,SMURF1,757,"E3 ubiquitin-protein ligase SMURF1; E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS. Plays a role in dendrite formation by melanocytes." 9606.ENSP00000354622,RUNDC1,613,RUN domain-containing protein 1; May play a role as p53/TP53 inhibitor and thus may have oncogenic activity. 9606.ENSP00000354623,WHRN,907,"Whirlin; Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport." 9606.ENSP00000354632,MT-ATP6,226,"ATP synthase subunit a; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...] " 9606.ENSP00000354633,TAF11,211,Transcription initiation factor TFIID subunit 11; Core TAFII present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively); Belongs to the TAF11 family. 9606.ENSP00000354643,DIO1,249,"Type I iodothyronine deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney." 9606.ENSP00000354645,GPATCH3,525,"G patch domain-containing protein 3; Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development. Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6." 9606.ENSP00000354649,MAGT1,367,Magnesium transporter protein 1; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulf [...] 9606.ENSP00000354652,NPY1R,384,"Neuropeptide Y receptor type 1; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is NPY > [Pro-34] PYY, PYY and [Leu-31, Pro-34] NPY > NPY (2-36) > [Ile-31, Gln-34] PP and PYY (3-36) > PP > NPY free acid." 9606.ENSP00000354660,MAGEC2,373,Melanoma-associated antigen C2; Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex. 9606.ENSP00000354665,MT-ND6,174,NADH-ubiquinone oxidoreductase chain 6; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000354669,MINDY1,517,Ubiquitin carboxyl-terminal hydrolase MINDY-1; Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover; Belongs to the MINDY deubiquitinase family. FAM63 subfamily. 9606.ENSP00000354671,MAST2,1798,"Microtubule-associated serine/threonine-protein kinase 2; Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family." 9606.ENSP00000354677,GPX7,187,Glutathione peroxidase 7; It protects esophageal epithelia from hydrogen peroxide- induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks; Belongs to the glutathione peroxidase family. 9606.ENSP00000354681,OPA1,997,"Dynamin-like 120 kDa protein, mitochondrial; Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission. Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion. Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation. The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes. Plays a role in remodeling crist [...] " 9606.ENSP00000354683,ZNF630,657,Zinc finger protein 630; May be involved in transcriptional regulation. 9606.ENSP00000354686,ZNF652,606,Zinc finger protein 652; Functions as a transcriptional repressor. 9606.ENSP00000354687,MT-ND1,318,NADH-ubiquinone oxidoreductase chain 1; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000354688,DENND10,357,"DENN domain-containing protein 10; Guanine nucleotide exchange factor (GEF) regulating homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion, possibly through activating Rab proteins such as RAB27A and RAB27B. Seems to promote the exchange of GDP to GTP, converting inactive GDP-bound RAB27A and RAB27B into their active GTP- bound form; Belongs to the DENND10 family." 9606.ENSP00000354689,SLC39A13,371,Zinc transporter ZIP13; Acts as a zinc-influx transporter. Belongs to the ZIP transporter (TC 2.A.5) family. 9606.ENSP00000354691,FCRL5,977,Fc receptor-like protein 5; May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells. 9606.ENSP00000354718,AKAP13,2817,"A-kinase anchor protein 13; Scaffold protein that plays an important role in assembling signaling complexes downstream of several types of G protein-coupled receptors. Activates RHOA in response to signaling via G protein- coupled receptors via its function as Rho guanine nucleotide exchange factor. May also activate other Rho family members. Part of a kinase signaling complex that links ADRA1A and ADRA1B adrenergic receptor signaling to the activation of downstream p38 MAP kinases, such as MAPK11 and MAPK14. Part of a signaling complex that links ADRA1B signaling to the activation of [...] " 9606.ENSP00000354720,SMC3,1217,"Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement." 9606.ENSP00000354721,SLC26A1,701,Sulfate anion transporter 1; Mediates sulfate transport with high affinity. Mediates oxalate transport. Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity). 9606.ENSP00000354722,EIF1AY,144,"Eukaryotic translation initiation factor 1A, Y-chromosomal; Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits (By similarity)." 9606.ENSP00000354723,H2BW1,175,"Histone H2B type W-T; Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function." 9606.ENSP00000354724,PCGF3,242,"Polycomb group RING finger protein 3; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity. Plays a redundant role with PCGF5 as part of a PRC1- like complex that mediates mon [...] " 9606.ENSP00000354728,MT-ND4L,98,NADH-ubiquinone oxidoreductase chain 4L; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000354732,PRR5-ARHGAP8,564,PRR5-ARHGAP8 readthrough. 9606.ENSP00000354733,SBNO2,1366,"Protein strawberry notch homolog 2; Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP-repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL- mediated osteoclast fusion via a DCSTAMP-dependent pathway. May also be required in the regulation of osteoblast differentiation (By similarity). Involved in the transcriptional corepression of NF-kappaB in macrophages. Pla [...] " 9606.ENSP00000354739,RPL12,165,60S ribosomal protein L12; Binds directly to 26S ribosomal RNA. 9606.ENSP00000354742,IPO9,1041,"Importin-9; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] " 9606.ENSP00000354762,COA3,106,"Cytochrome c oxidase assembly factor 3 homolog, mitochondrial; Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly; Belongs to the COA3 family." 9606.ENSP00000354772,MVB12B,319,"Multivesicular body subunit 12B; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies." 9606.ENSP00000354774,SPRYD7,196,SPRY domain containing 7. 9606.ENSP00000354775,PJA2,708,"E3 ubiquitin-protein ligase Praja-2; Has E2-dependent E3 ubiquitin-protein ligase activity. Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes. Through the ubiquitination of MFHAS1, positively regulates the TLR2 signaling pathway that leads to the activation of the downstream p38 and JNK MAP kinases and promotes the polarization of macrophages toward the pro-inflammatory M1 phenotype." 9606.ENSP00000354777,TBKBP1,615,TANK-binding kinase 1-binding protein 1; Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. 9606.ENSP00000354778,CNTNAP2,1331,"Contactin-associated protein-like 2; Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction." 9606.ENSP00000354782,CD247,164,"T-cell surface glycoprotein CD3 zeta chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR- mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of d [...] " 9606.ENSP00000354791,DCTN1,1278,"Dynactin subunit 1; Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule. C [...] " 9606.ENSP00000354794,ZNF521,1311,"Zinc finger protein 521; Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes; Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000354812,SPOUT1,376,"Putative methyltransferase C9orf114; Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase. Also involved in chromosome alignment. May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis. Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level." 9606.ENSP00000354813,MT-ND5,603,NADH-ubiquinone oxidoreductase chain 5; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000354822,XAF1,301,"XIAP-associated factor 1; Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 fr [...] " 9606.ENSP00000354826,CALD1,793,"Caldesmon; Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin. Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also plays an essential role during cellular mitosi [...] " 9606.ENSP00000354829,SGMS1,413,"Phosphatidylcholine:ceramide cholinephosphotransferase 1; Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell [...] " 9606.ENSP00000354830,DDIT4L,193,DNA damage-inducible transcript 4-like protein; Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1. 9606.ENSP00000354837,ARHGEF2,986,"Rho guanine nucleotide exchange factor 2; Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing syste [...] " 9606.ENSP00000354842,TOX,526,"Thymocyte selection-associated high mobility group box protein TOX; Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis (By similarity). Binds to GC-rich DNA sequences in the proximity of transcription start sites and may alter chromatin structure, modifying access of transcription factors to DNA. During cortical development, controls the neural stem cell pool by inhibiting the switch from proliferative to differentiating progenitors. Beyond progenitor cells, promotes neu [...] " 9606.ENSP00000354848,KIFBP,621,"KIF-binding protein; Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development; Belongs to the KIF-binding protein family." 9606.ENSP00000354850,OGA,916,Protein O-GlcNAcase; [Isoform 1]: Cleaves GlcNAc but not GalNAc from O- glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc and 4- methylumbelliferone-GlcNAc as substrates but not p-nitrophenyl-beta- GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro). Does not bind acetyl-CoA and does not have histone acetyltransferase activity. 9606.ENSP00000354855,NFE2L1,772,"Endoplasmic reticulum membrane sensor NFE2L1; [Endoplasmic reticulum membrane sensor NFE2L1]: Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor. Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition. In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into the nucleus to form the transcri [...] " 9606.ENSP00000354859,DRD2,443,D(2) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000354871,PPEF1,653,Serine/threonine-protein phosphatase with EF-hands 1; May have a role in the recovery or adaptation response of photoreceptors. May have a role in development; Belongs to the PPP phosphatase family. 9606.ENSP00000354874,SEPTIN4,570,Uncharacterized protein C17orf47; Septin 4. 9606.ENSP00000354876,MT-CO2,227,"Cytochrome c oxidase subunit 2; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...] " 9606.ENSP00000354878,KIF21A,1674,"Kinesin-like protein KIF21A; Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity (By similarity)." 9606.ENSP00000354884,RASSF9,435,Ras association domain-containing protein 9; May play a role in regulating vesicuar trafficking in cells. 9606.ENSP00000354886,SLC25A47,308,Solute carrier family 25 member 47; Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential. 9606.ENSP00000354888,CCDC152,254,Coiled-coil domain containing 152. 9606.ENSP00000354891,FAM163A,167,Protein FAM163A; Family with sequence similarity 163 member A; Belongs to the FAM163 family. 9606.ENSP00000354900,GJB1,283,"Gap junction beta-1 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000354901,CXCL9,125,"C-X-C motif chemokine 9; Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3; Belongs to the intercrine alpha (chemokine CxC) family." 9606.ENSP00000354910,NRG2,850,"Pro-neuregulin-2, membrane-bound isoform; Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerization with the EGF receptor." 9606.ENSP00000354911,TIFA,184,"TRAF-interacting protein with FHA domain-containing protein A; Adapter molecule that plays a key role in the activation of proinflammatory NF-kappa-B signaling following detection of bacterial pathogen-associated molecular pattern metabolites (PAMPs). Promotes activation of an innate immune response by inducing the oligomerization and polyubiquitination of TRAF6, which leads to the activation of TAK1 and IKK through a proteasome-independent mechanism. TIFA-dependent innate immune response is triggered by ADP-D-glycero- beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gr [...] " 9606.ENSP00000354912,MAGEE1,957,Melanoma-associated antigen E1; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. 9606.ENSP00000354916,CDC14A,623,"Dual specificity protein phosphatase CDC14A; Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. Required for normal hearing." 9606.ENSP00000354917,TOGARAM1,1773,"TOG array regulator of axonemal microtubules protein 1; Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity). Belongs to the Crescerin family." 9606.ENSP00000354919,VEPH1,833,"Ventricular zone-expressed PH domain-containing protein homolog 1; Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling. May also affect FOXO, Hippo and Wnt signaling; Belongs to the MELT/VEPH family." 9606.ENSP00000354920,EEF1AKNMT,699,"eEF1A lysine and N-terminal methyltransferase; Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation. Via its C-terminus, methylates EEF1A1 and EEF1A2 at the N-terminal residue 'Gly-2'. Via its N-terminus dimethylates EEF1A1 and EEF1A2 at residue 'Lys-55'. Has no activity towards core histones H2A, H2B, H3 and H4." 9606.ENSP00000354923,DMD,3685,Dystrophin; Anchors the extracellular matrix to the cytoskeleton via F- actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. 9606.ENSP00000354927,MAP3K3,657,"Mitogen-activated protein kinase kinase kinase 3; Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators." 9606.ENSP00000354929,NOTCH2NLA,236,"Notch homolog 2 N-terminal-like protein A; Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway. Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production. Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect. Enhances Notch signal [...] " 9606.ENSP00000354932,TLR1,786,"Toll-like receptor 1; Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Belongs to th [...] " 9606.ENSP00000354947,CAPZA2,286,"F-actin-capping protein subunit alpha-2; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments." 9606.ENSP00000354952,GAB2,676,"GRB2-associated-binding protein 2; Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis." 9606.ENSP00000354957,SMC5,1101,"Structural maintenance of chromosomes protein 5; Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies ( [...] " 9606.ENSP00000354958,FAM189B,668,Protein FAM189B; Family with sequence similarity 189 member B. 9606.ENSP00000354960,COLGALT2,626,Procollagen galactosyltransferase 2; Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen; Belongs to the glycosyltransferase 25 family. 9606.ENSP00000354961,MT-ND4,459,NADH-ubiquinone oxidoreductase chain 4; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000354964,ZNF318,2279,"Zinc finger protein 318; [Isoform 2]: Acts as a transcriptional corepressor for AR- mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division." 9606.ENSP00000354972,NAA35,725,"N-alpha-acetyltransferase 35, NatC auxiliary subunit; Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells." 9606.ENSP00000354982,MT-CO3,261,"Cytochrome c oxidase subunit 3; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and t [...] " 9606.ENSP00000354991,ALPK2,2170,Alpha-protein kinase 2; Protein kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. Regulates cardiac development and cardiomyocyte differentiation by negatively regulating Wnt/beta-catenin signaling ; Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. 9606.ENSP00000354995,ABCG1,678,"ATP-binding cassette sub-family G member 1; Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta- hydroxycholesterol and this transport is coupled to hydrlysis of ATP. The lipid efflux is ALB-dependent. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta- hydroxycholesterol ; Belongs to the ABC transporter superfamily. ABCG [...] " 9606.ENSP00000355001,POU3F3,500,"POU domain, class 3, transcription factor 3; Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT- 3') (By similarity)." 9606.ENSP00000355011,ILF2,390,Interleukin enhancer-binding factor 2; Appears to function predominantly as a heterodimeric complex with ILF3. This complex may regulate transcription of the IL2 gene during T-cell activation. It can also promote the formation of stable DNA-dependent protein kinase holoenzyme complexes on DNA. Essential for the efficient reshuttling of ILF3 (isoform 1 and isoform 2) into the nucleus. 9606.ENSP00000355013,CTR9,1173,"RNA polymerase-associated protein CTR9 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] " 9606.ENSP00000355014,PJA1,643,E3 ubiquitin-protein ligase Praja-1; Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting. 9606.ENSP00000355022,TEDC2,433,Tubulin epsilon and delta complex protein 2; Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability. 9606.ENSP00000355026,ARHGEF15,841,Rho guanine nucleotide exchange factor 15; Specific GEF for RhoA activation. Does not activate RAC1 or CDC42. Regulates vascular smooth muscle contractility. Negatively regulates excitatory synapse development by suppressing the synapse- promoting activity of EPHB2. 9606.ENSP00000355028,DZIP3,1208,E3 ubiquitin-protein ligase DZIP3; E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA. 9606.ENSP00000355046,MT-ND2,347,NADH-ubiquinone oxidoreductase chain 2; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000355050,CTNNBL1,563,Beta-catenin-like protein 1; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis. 9606.ENSP00000355051,TAF13,124,Transcription initiation factor TFIID subunit 13; Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells. Belongs to the TAF13 family. 9606.ENSP00000355053,ZSCAN20,1043,Zinc finger and SCAN domain-containing protein 20; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000355060,ARHGEF10L,1279,"Rho guanine nucleotide exchange factor 10-like protein; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC." 9606.ENSP00000355064,SHISA4,197,Protein shisa-4; Shisa family member 4. 9606.ENSP00000355077,NSMCE1,266,"Non-structural maintenance of chromosomes element 1 homolog; RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair. NSMCE3/MAGEG1 and NSMCE [...] " 9606.ENSP00000355082,PCDH18,1135,Protocadherin-18; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000355084,MSRB1,116,"Methionine-R-sulfoxide reductase B1; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to a [...] " 9606.ENSP00000355090,ARHGAP11A,1023,Rho GTPase activating protein 11A. 9606.ENSP00000355094,QKI,341,"Protein quaking; RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY- 3' RNA core sequence. Regulates target mRNA stability. In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulat [...] " 9606.ENSP00000355110,SMOC1,435,SPARC-related modular calcium-binding protein 1; Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. 9606.ENSP00000355114,DCAF12,453,DDB1- and CUL4-associated factor 12; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000355121,ITPRIPL1,563,"Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1; ITPRIP like 1." 9606.ENSP00000355124,KRT19,400,"Keratin, type I cytoskeletal 19; Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle; Belongs to the intermediate filament family." 9606.ENSP00000355133,NOS1AP,506,"Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein; Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity)." 9606.ENSP00000355140,HOXB1,301,Homeobox protein Hox-B1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. 9606.ENSP00000355141,SELENON,590,"Selenoprotein N; [Isoform 2]: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity. Acts as a modulator of ryanodine receptor [...] " 9606.ENSP00000355155,GRIN3A,1115,"Glutamate receptor ionotropic, NMDA 3A; NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. May play a role in the development of dendritic spines. May play a role in PPP2CB-NMDAR mediated signaling mechanism (By similarity)." 9606.ENSP00000355156,SUCNR1,334,Succinate receptor 1; Receptor for succinate. 9606.ENSP00000355157,FCRL2,508,Fc receptor-like protein 2; May have an regulatory role in normal and neoplastic B cell development. 9606.ENSP00000355162,TIGD4,512,Tigger transposable element derived 4. 9606.ENSP00000355166,LRRC10,277,Leucine-rich repeat-containing protein 10; May play important roles in cardiac development and/or cardiac function. 9606.ENSP00000355167,HORMAD1,394,"HORMA domain-containing protein 1; Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single- stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process b [...] " 9606.ENSP00000355180,COL6A1,1028,Collagen alpha-1(VI) chain; Collagen VI acts as a cell-binding protein. 9606.ENSP00000355185,DCLRE1A,1040,DNA cross-link repair 1A protein; May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons. 9606.ENSP00000355187,LRRTM3,581,"Leucine-rich repeat transmembrane neuronal protein 3; Exhibits a limited synaptogenic activity in vitro, restricted to excitatory presynaptic differentiation (By similarity). May play a role in the development and maintenance of the vertebrate nervous system; Belongs to the LRRTM family." 9606.ENSP00000355192,CACNA1S,1873,"Voltage-dependent L-type calcium channel subunit alpha-1S; Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group." 9606.ENSP00000355195,ASB12,318,Ankyrin repeat and SOCS box protein 12; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000355198,MAGEB3,346,Melanoma-associated antigen B3; MAGE family member B3. 9606.ENSP00000355204,FAM110B,370,Protein FAM110B; May be involved in tumor progression. 9606.ENSP00000355206,MT-ND3,115,NADH-ubiquinone oxidoreductase chain 3; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). 9606.ENSP00000355228,HMGN2,90,Non-histone chromosomal protein HMG-17; Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation (By similarity). 9606.ENSP00000355231,BECN1,450,"Beclin-1-C 35 kDa; Plays a central role in autophagy. Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2. Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex fo [...] " 9606.ENSP00000355237,CDC42BPB,1711,"Serine/threonine-protein kinase MRCK beta; Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates PPP1R12A. In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and su [...] " 9606.ENSP00000355241,TEX45,505,Testis-expressed protein 45; Testis expressed 45. 9606.ENSP00000355245,PAX9,341,"Paired box protein Pax-9; Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs." 9606.ENSP00000355249,E2F2,437,"Transcription factor E2F2; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from g1 to s phase. E2F2 binds specifically to RB1 in a cell-cycle dependent manner; Belongs to the E2F/DP family." 9606.ENSP00000355250,KIAA0753,967,Protein moonraker; Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2. 9606.ENSP00000355251,ZNF511,252,Zinc finger protein 511; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000355260,PPP1R14C,165,Protein phosphatase 1 regulatory subunit 14C; Inhibitor of the PP1 regulatory subunit PPP1CA. 9606.ENSP00000355261,SMG5,1016,"Protein SMG5; Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity." 9606.ENSP00000355265,MT-ATP8,68,"ATP synthase protein 8; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...] " 9606.ENSP00000355279,CNOT7,285,"CCR4-NOT transcription complex subunit 7; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT8. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translationa [...] " 9606.ENSP00000355299,TSEN15,175,"tRNA-splicing endonuclease subunit Sen15; Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA bo [...] " 9606.ENSP00000355302,KRTAP1-5,174,"Keratin-associated protein 1-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 1 family." 9606.ENSP00000355304,MOK,419,MAPK/MAK/MRK overlapping kinase; Able to phosphorylate several exogenous substrates and to undergo autophosphorylation. Negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner. 9606.ENSP00000355306,C1orf174,243,UPF0688 protein C1orf174; Chromosome 1 open reading frame 174; Belongs to the UPF0688 family. 9606.ENSP00000355308,HACD1,288,"Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1; [Isoform 1]: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processe [...] " 9606.ENSP00000355315,RPL39,51,Ribosomal protein L39; Belongs to the eukaryotic ribosomal protein eL39 family. 9606.ENSP00000355316,GRM3,879,Metabotropic glutamate receptor 3; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity. 9606.ENSP00000355319,CIPC,399,"CLOCK-interacting pacemaker; Transcriptional repressor which may act as a negative- feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1-dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock." 9606.ENSP00000355325,PSMB5,263,"Proteasome subunit beta type-5; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000355330,TGM2,687,"Protein-glutamine gamma-glutamyltransferase 2; Catalyzes the cross-linking of proteins, such as WDR54, and the conjugation of polyamines to proteins." 9606.ENSP00000355340,APOBEC3C,190,"DNA dC->dU-editing enzyme APOBEC-3C; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamin [...] " 9606.ENSP00000355354,SOX15,233,"Protein SOX-15; Transcription factor that binds to DNA at the 5'-AACAATG-3' consensus sequence (By similarity). Acts as a transcriptional activator and repressor (By similarity). Binds synergistically with POU5F1 (OCT3/4) to gene promoters (By similarity). Binds to the FOXK1 promoter and recruits FHL3, resulting in transcriptional activation of FOXK1 which leads to myoblast proliferation (By similarity). Acts as an inhibitor of myoblast differentiation via transcriptional repression which leads to down-regulation of the muscle-specific genes MYOD and MYOG (By similarity). Involved in t [...] " 9606.ENSP00000355361,CD47,323,"Leukocyte surface antigen CD47; Has a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. Plays an important role in memory formation and synaptic plasticity in the hippocampus (By similarity). Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation. May play a role in membrane transp [...] " 9606.ENSP00000355370,CNTF,200,Ciliary neurotrophic factor; CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy. 9606.ENSP00000355374,OSGIN1,477,Oxidative stress-induced growth inhibitor 1; Regulates the differentiation and proliferation through the regulation of cell death. 9606.ENSP00000355377,AKR7A3,331,"Aflatoxin B1 aldehyde reductase member 3; Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen." 9606.ENSP00000355384,SLC26A11,606,Sodium-independent sulfate anion transporter; Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC). 9606.ENSP00000355385,R3HDM4,268,R3H domain containing 4. 9606.ENSP00000355387,SCAMP5,235,Secretory carrier-associated membrane protein 5; Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway. 9606.ENSP00000355388,MPHOSPH8,860,"M-phase phosphoprotein 8; Heterochromatin component that specifically recognizes and binds methylated 'Lys-9' of histone H3 (H3K9me) and promotes recruitment of proteins that mediate epigenetic repression. Mediates recruitment of the HUSH complex to H3K9me3 sites: the HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2. Binds H3K9me and promotes DNA methylation by recruiting DNMT3A to target CpG sites; [...] " 9606.ENSP00000355396,LRIG2,1065,Leucine rich repeats and immunoglobulin like domains 2. 9606.ENSP00000355402,ISLR2,745,Immunoglobulin superfamily containing leucine-rich repeat protein 2; Required for axon extension during neural development. 9606.ENSP00000355419,PCDH11Y,1048,Protocadherin 11 Y-linked. 9606.ENSP00000355421,GAGE2A,116,G antigen 2A. 9606.ENSP00000355428,SH3BP5L,393,SH3 domain-binding protein 5-like; Functions as guanine nucleotide exchange factor (GEF) for RAB11A. 9606.ENSP00000355430,OR2T1,369,Olfactory receptor 2T1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000355431,OR2T4,348,Olfactory receptor 2T4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000355432,OR2M5,312,Olfactory receptor 2M5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000355437,TRIM58,486,"E3 ubiquitin-protein ligase TRIM58; E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization." 9606.ENSP00000355441,OR14A2,314,Olfactory receptor 14A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000355459,ZNF670,389,Zinc finger protein 670; May be involved in transcriptional regulation. 9606.ENSP00000355465,AHCTF1,2275,Protein ELYS; Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis. 9606.ENSP00000355467,SCCPDH,429,Saccharopine dehydrogenase-like oxidoreductase; Saccharopine dehydrogenase; Belongs to the saccharopine dehydrogenase family. 9606.ENSP00000355470,CNST,725,Consortin; Required for targeting of connexins to the plasma membrane. 9606.ENSP00000355471,TFB2M,396,"Dimethyladenosine transferase 2, mitochondrial; S-adenosyl-L-methionine-dependent rRNA methyltransferase which may methylate two specific adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 12S mitochondrial rRNA (Probable). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA. In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non- templ [...] " 9606.ENSP00000355480,EFCAB2,162,"Dynein regulatory complex protein 8; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes; Belongs to the DRC8 family." 9606.ENSP00000355486,COX20,130,"Cytochrome c oxidase assembly protein COX20, mitochondrial; Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme." 9606.ENSP00000355492,CATSPERE,951,"Cation channel sperm-associated protein subunit epsilon; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization; Belongs to the CATSPERD family." 9606.ENSP00000355493,ADSS2,456,Adenylosuccinate synthetase isozyme 2; Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. Belongs to the adenylosuccinate synthetase family. 9606.ENSP00000355499,SDCCAG8,713,"Serologically defined colon cancer antigen 8; Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Plays also an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis." 9606.ENSP00000355500,CEP170,1584,Centrosomal protein of 170 kDa; Plays a role in microtubule organization. Required for centriole subdistal appendage assembly. Belongs to the CEP170 family. 9606.ENSP00000355506,EXO1,846,Exonuclease 1; 5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Es [...] 9606.ENSP00000355510,WDR64,1081,WD repeat domain 64. 9606.ENSP00000355511,CHML,656,Rab proteins geranylgeranyltransferase component A 2; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family. 9606.ENSP00000355512,OPN3,402,Opsin-3; May play a role in encephalic photoreception; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. 9606.ENSP00000355517,KMO,486,"Kynurenine 3-monooxygenase; Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (Probable)." 9606.ENSP00000355518,FH,510,"Fumarate hydratase, mitochondrial; Catalyzes the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable). [Isoform Cytoplasmic]: Catalyzes the dehydration of L-malate to fumarate (By similarity). Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by- product of the urea cycle and amino-acid catabolism (By similarity). Also plays a role in DNA repair by promotin [...] " 9606.ENSP00000355523,RGS7,487,"Regulator of G-protein signaling 7; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP- bound form. The RGS7/GNB5 dimer enhances GNAO1 GTPase activity. May play a role in synaptic vesicle exocytosis. Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling." 9606.ENSP00000355533,RYR2,4967,"Ryanodine receptor 2; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. Belongs to the ryanodine rec [...] " 9606.ENSP00000355536,MTR,1265,"Methionine synthase; Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity); Belongs to the vitamin-B12 dependent methionine synthase family." 9606.ENSP00000355537,ACTN2,894,Alpha-actinin-2; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. 9606.ENSP00000355541,HEATR1,2144,"HEAT repeat-containing protein 1, N-terminally processed; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I; Belongs to the HEATR1/UTP10 family." 9606.ENSP00000355551,GPR137B,399,"Integral membrane protein GPR137B; Lysosomal integral membrane protein that regulates the localization and activity of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Interacts with Rag GTPases and increases the lysosomial localization and activity of Rag GTPases and thereby regulates mTORC1 translocation and activity in lysosome. Involved in the regulation of lysosomal morphology and autophagy." 9606.ENSP00000355559,B3GALNT2,500,"UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2; Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O- glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O- mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4- (pho [...] " 9606.ENSP00000355566,TOMM20,145,Mitochondrial import receptor subunit TOM20 homolog; Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases. Belongs to the Tom20 family. 9606.ENSP00000355568,IRF2BP2,587,Interferon regulatory factor 2-binding protein 2; Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles. Plays a role in immature B-cell differentiation. 9606.ENSP00000355574,COA6,155,"Cytochrome c oxidase assembly factor 6 homolog; Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomp [...] " 9606.ENSP00000355577,SLC35F3,490,Putative thiamine transporter SLC35F3; May be a thiamine transporter; Belongs to the SLC35F solute transporter family. 9606.ENSP00000355580,KCNK1,336,"Potassium channel subfamily K member 1; Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues. Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium. The homodimer has very low potassium [...] " 9606.ENSP00000355583,MAP3K21,1036,"Mitogen-activated protein kinase kinase kinase 21; Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways." 9606.ENSP00000355587,NTPCR,190,"Cancer-related nucleoside-triphosphatase; Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency. Belongs to the THEP1 NTPase family." 9606.ENSP00000355589,SIPA1L2,1722,Signal-induced proliferation-associated 1-like protein 2; Signal induced proliferation associated 1 like 2. 9606.ENSP00000355599,TSNAX,290,Translin-associated protein X; Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis. 9606.ENSP00000355601,EGLN1,426,"Egl nine homolog 1; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is [...] " 9606.ENSP00000355605,EXOC8,725,Exocyst complex component 8; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane; Belongs to the EXO84 family. 9606.ENSP00000355607,GNPAT,680,Glyceronephosphate O-acyltransferase. 9606.ENSP00000355609,C1orf131,293,Uncharacterized protein C1orf131; Chromosome 1 open reading frame 131. 9606.ENSP00000355613,TRIM67,783,Tripartite motif containing 67; Belongs to the TRIM/RBCC family. 9606.ENSP00000355614,FAM89A,184,Protein FAM89A; Family with sequence similarity 89 member A; Belongs to the FAM89 family. 9606.ENSP00000355621,TTC13,860,Tetratricopeptide repeat domain 13. 9606.ENSP00000355623,C1orf198,327,Uncharacterized protein C1orf198; Chromosome 1 open reading frame 198. 9606.ENSP00000355627,AGT,485,"Angiotensin 1-4; Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. [Angiotensin-3]: stimulates aldosterone release." 9606.ENSP00000355629,COG2,738,Conserved oligomeric Golgi complex subunit 2; Required for normal Golgi morphology and function; Belongs to the COG2 family. 9606.ENSP00000355631,OTX1,354,Homeobox protein OTX1; Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC- 3'. 9606.ENSP00000355632,GALNT2,571,"Polypeptide N-acetylgalactosaminyltransferase 2 soluble form; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region." 9606.ENSP00000355637,ABCB10,738,"ATP-binding cassette sub-family B member 10, mitochondrial; May mediate critical mitochondrial transport functions related to heme biosynthesis; Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily." 9606.ENSP00000355645,ACTA1,377,"Actin, alpha skeletal muscle, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells; Belongs to the actin family." 9606.ENSP00000355649,SPHAR,63,Protein SPHAR. 9606.ENSP00000355651,RAB4A,218,Ras-related protein Rab-4A; Protein transport. Plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling. 9606.ENSP00000355652,RHOU,258,"Rho-related GTP-binding protein RhoU; Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP-bound. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Belongs to the small GTPase superfamily. Rho family." 9606.ENSP00000355656,H2AW,130,"Histone H2A type 3; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000355657,H3-4,136,"Histone H3.1t; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000355658,TRIM17,477,E3 ubiquitin-protein ligase TRIM17; May function as a ubiquitin E3 ligase. Belongs to the TRIM/RBCC family. 9606.ENSP00000355672,IBA57,356,"Putative transferase CAF17, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway." 9606.ENSP00000355675,GJC2,439,"Gap junction gamma-2 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems." 9606.ENSP00000355689,GUK1,241,"Guanylate kinase; Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP). Involved in the cGMP metabolism in photoreceptors (By similarity). It may also have a role in the survival and growth progression of some tumors. In addition to its physiological role, GUK1 is essential for convert prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine. Belongs to the guanylate ki [...] " 9606.ENSP00000355718,DLL1,723,"Delta-like protein 1; Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner. Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain [...] " 9606.ENSP00000355719,PRSS38,326,Serine protease 38. 9606.ENSP00000355720,JMJD4,463,2-oxoglutarate and iron-dependent oxygenase JMJD4; Catalyzes the 2-oxoglutarate and iron-dependent C4-lysyl hydroxylation of ETF1 at 'Lys-63' thereby promoting the translational termination efficiency of ETF1. 9606.ENSP00000355731,CDC42BPA,1719,"Serine/threonine-protein kinase MRCK alpha; Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates: PPP1R12A, LIMK1 and LIMK2. May play a role in TFRC-mediated iron uptake. In concert with FAM89B/LRAP25 mediates the targeting [...] " 9606.ENSP00000355735,ERMARD,678,Endoplasmic reticulum membrane-associated RNA degradation protein; May play a role in neuronal migration during embryonic development. 9606.ENSP00000355736,TCTE3,198,Tctex1 domain-containing protein 3; May be an accessory component of axonemal dynein and cytoplasmic dynein 1. Candidate for involvement in male sterility (By similarity); Belongs to the dynein light chain Tctex-type family. 9606.ENSP00000355741,COQ8A,647,"Atypical kinase COQ8A, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates. Shows an unusual selectivity for binding ADP over ATP." 9606.ENSP00000355747,PSEN2,448,"Presenilin-2 CTF subunit; Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). Requires the other members of the gamma- secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. The holoprotein functions as a calcium-leak channel that allows the passive movement o [...] " 9606.ENSP00000355751,THBS2,1172,Thrombospondin-2; Adhesive glycoprotein that mediates cell-to-cell and cell-to- matrix interactions. Ligand for CD36 mediating antiangiogenic properties. 9606.ENSP00000355752,STUM,141,"Protein stum homolog; Stum, mechanosensory transduction mediator homolog." 9606.ENSP00000355759,PARP1,1014,"Poly [ADP-ribose] polymerase 1; Poly-ADP-ribosyltransferase that mediates poly-ADP- ribosylation of proteins and plays a key role in DNA repair. Mainly mediates glutamate and aspartate ADP-ribosylation of target proteins: the ADP-D- ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of glutamate and aspartate residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units. Mediates the poly(ADP-ribosyl)ation of a number of proteins, including itself, APLF an [...] " 9606.ENSP00000355760,DACT2,774,"Dapper homolog 2; Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity); Belongs to the dapper family." 9606.ENSP00000355771,AFDN,1781,"Afadin; Belongs to an adhesion system, probably together with the E- cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton. May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions. ECO:0000250|UniProtKB:Q9QZQ1." 9606.ENSP00000355777,ACBD3,528,"Golgi resident protein GCP60, N-terminally processed; Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi. Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase." 9606.ENSP00000355780,H3-3A,136,H3.3 histone A. 9606.ENSP00000355785,LEFTY2,366,Left-right determination factor 2; Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding. 9606.ENSP00000355797,TCP10L2,353,"T-complex protein 10A homolog 2; T-complex 10 like 2, pseudogene; Belongs to the TCP10 family." 9606.ENSP00000355799,GPR31,319,"12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor; High-affinity receptor for 12-(S)-hydroxy-5,8,10,14- eicosatetraenoic acid (12-S-HETE). 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. Ligand-binding lead to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B." 9606.ENSP00000355800,TMEM63A,807,CSC1-like protein 1; Acts as an osmosensitive calcium-permeable cation channel. Mechanosensitive ion channel that converts mechanical stimuli into a flow of ion. 9606.ENSP00000355809,ENAH,591,Protein enabled homolog; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity). 9606.ENSP00000355812,FGFR1OP,399,FGFR1 oncogene partner; Required for anchoring microtubules to the centrosomes. Required for ciliation. 9606.ENSP00000355827,FBXO28,368,F-box only protein 28; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. 9606.ENSP00000355837,CAPN8,703,Calpain-8; Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta-subunit of coatomer complex (By similarity); Belongs to the peptidase C2 family. 9606.ENSP00000355840,CCDC185,623,Coiled-coil domain containing 185. 9606.ENSP00000355847,PDE10A,789,"cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition." 9606.ENSP00000355865,PRKN,465,"E3 ubiquitin-protein ligase parkin; Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746 and AIMP2. Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'- linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context. Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of m [...] " 9606.ENSP00000355866,DUSP10,482,Dual specificity protein phosphatase 10; Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38. 9606.ENSP00000355870,HLX,488,H2.0-like homeobox protein; Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity); Belongs to the H2.0 homeobox family. 9606.ENSP00000355877,MARC1,337,"Mitochondrial amidoxime-reducing component 1; Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles. As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability. May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis. Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transf [...] " 9606.ENSP00000355880,MARC2,335,"Mitochondrial amidoxime reducing component 2; Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles. As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability. May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis. Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transf [...] " 9606.ENSP00000355889,IARS2,1012,"Isoleucine--tRNA ligase, mitochondrial; isoleucyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000355890,EPRS1,1512,"Bifunctional glutamate/proline--tRNA ligase; Multifunctional protein which is primarily part of the aminoacyl-tRNA synthetase multienzyme complex, also know as multisynthetase complex, that catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the acceptor end of the cognate tRNA. The phosphorylation of EPRS1, induced by interferon-gamma, dissociates the protein from the aminoacyl-tRNA synthetase multienzyme complex and recruits it [...] " 9606.ENSP00000355893,SLC30A10,485,"Zinc transporter 10; Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death. Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recyc [...] " 9606.ENSP00000355895,LYPLAL1,237,"Lysophospholipase-like protein 1; Has depalmitoylating activity toward KCNMA1. Does not exhibit phospholipase nor triacylglycerol lipase activity, able to hydrolyze only short chain substrates due to its shallow active site. Belongs to the AB hydrolase superfamily. AB hydrolase 2 family." 9606.ENSP00000355896,TGFB2,442,"Transforming growth factor beta-2 proprotein; Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development. Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth fact [...] " 9606.ENSP00000355899,RRP15,282,RRP15-like protein; Ribosomal RNA processing 15 homolog. 9606.ENSP00000355900,SPATA17,361,Spermatogenesis-associated protein 17; Spermatogenesis associated 17. 9606.ENSP00000355902,GPATCH2,528,G patch domain-containing protein 2; Enhances the ATPase activity of DHX15 in vitro. 9606.ENSP00000355904,ESRRG,470,Estrogen-related receptor gamma; Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle. 9606.ENSP00000355920,SLC22A2,555,"Solute carrier family 22 member 2; Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamine, creatinine, amantadine, memantine, acriflavine, 4-[4- (dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4- phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as [...] " 9606.ENSP00000355922,CENPF,3114,"Centromere protein F; Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cy [...] " 9606.ENSP00000355923,PTPN14,1187,"Tyrosine-protein phosphatase non-receptor type 14; Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor. Belongs to the protein-tyrosine phosphata [...] " 9606.ENSP00000355924,SMYD2,433,"N-lysine methyltransferase SMYD2; Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins, including p53/TP53 and RB1. Specifically trimethylates histone H3 'Lys-4' (H3K4me3) in vivo. The activity requires interaction with HSP90alpha. Shows even higher methyltransferase activity on p53/TP53. Monomethylates 'Lys-370' of p53/TP53, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity of p53/TP53. Monomethylates RB1 at 'Lys-860'. Belongs to the class V-like SAM-binding methyltransferase superfamily." 9606.ENSP00000355925,PROX1,737,"Prospero homeobox protein 1; Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of [...] " 9606.ENSP00000355927,RPS6KC1,1066,Ribosomal protein S6 kinase delta-1; May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell. Plays a role in the recruitment of PRDX3 to early endosomes. 9606.ENSP00000355929,ANGEL2,544,Angel homolog 2. 9606.ENSP00000355930,SLC22A1,554,"Solute carrier family 22 member 1; Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1- methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1- methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)-N- methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA recepto [...] " 9606.ENSP00000355938,FLVCR1,555,"Feline leukemia virus subgroup C receptor-related protein 1; [Isoform 1]: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies [...] " 9606.ENSP00000355944,NSL1,281,Kinetochore-associated protein NSL1 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. 9606.ENSP00000355955,NENF,172,"Neudesin; Acts as a neurotrophic factor in postnatal mature neurons enhancing neuronal survival. Promotes cell proliferation and neurogenesis in undifferentiated neural progenitor cells at the embryonic stage and inhibits differentiation of astrocytes (By similarity). Its neurotrophic activity is exerted via MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT pathways (By similarity). Neurotrophic activity is enhanced by binding to heme (By similarity). Acts also as an anorexigenic neurotrophic factor that contributes to energy balance (By similarity)." 9606.ENSP00000355958,DTL,730,"Denticleless protein homolog; Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2. CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication. CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication lice [...] " 9606.ENSP00000355961,INTS7,962,"Integrator complex subunit 7; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Plays a role in DNA damage response (DDR) signaling during the S phase. May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex." 9606.ENSP00000355964,LPGAT1,370,Acyl-CoA:lysophosphatidylglycerol acyltransferase 1; Lysophosphatidylglycerol (LPG) specific acyltransferase that recognizes various acyl-CoAs and LPGs as substrates but demonstrates a clear preference for long chain saturated fatty acyl-CoAs and oleoyl- CoA as acyl donors. Prefers oleoyl-LPG over palmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoA as an acyl donor. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. 9606.ENSP00000355966,NEK2,445,"Serine/threonine-protein kinase Nek2; Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint [...] " 9606.ENSP00000355968,SLC30A1,507,Zinc transporter 1; May be involved in zinc transport out of the cell; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. 9606.ENSP00000355969,RD3,195,"Protein RD3; Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors. Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors. Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment. Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP. Plays an important role for the survival of rods and cones in the retina (By sim [...] " 9606.ENSP00000355979,SERTAD4,356,SERTA domain containing 4. 9606.ENSP00000355988,IRF6,467,Interferon regulatory factor 6; Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity). Belongs to the IRF family. 9606.ENSP00000355991,TRAF3IP3,551,TRAF3-interacting JNK-activating modulator; May function as an adapter molecule that regulates TRAF3- mediated JNK activation. 9606.ENSP00000355995,HSD11B1,292,"Corticosteroid 11-beta-dehydrogenase isozyme 1; Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta- hydroxycholesterol (By similarity)." 9606.ENSP00000355996,G0S2,103,"G0/G1 switch protein 2; Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers." 9606.ENSP00000356000,PLXNA2,1894,"Plexin-A2; Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity)." 9606.ENSP00000356001,MRPL18,180,"39S ribosomal protein L18, mitochondrial; Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA." 9606.ENSP00000356015,ACAT2,397,"Acetyl-CoA acetyltransferase, cytosolic; Involved in the biosynthetic pathway of cholesterol." 9606.ENSP00000356016,CR1,2489,"Complement receptor type 1; Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages. Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation. Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, a [...] " 9606.ENSP00000356024,CR2,1092,"Complement receptor type 2; Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU. Participates in B lymphocytes activation." 9606.ENSP00000356030,CD55,444,"Complement decay-accelerating factor; This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade. Inhibits complement activation by destabilizing and preventing the formation of C3 and [...] " 9606.ENSP00000356033,TAGAP,731,T-cell activation Rho GTPase-activating protein; May function as a GTPase-activating protein and may play important roles during T-cell activation. 9606.ENSP00000356037,C4BPA,597,"C4b-binding protein alpha chain; Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component." 9606.ENSP00000356047,PFKFB2,505,"6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2; Synthesis and degradation of fructose 2,6-bisphosphate." 9606.ENSP00000356056,DYNLT1,113,Dynein light chain Tctex-type 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Binds to transport cargos and is involved in apical cargo transport such as rhodopsin-bearing vesicles in polarized epithelia. May also be a accessory component of axonemal dynein. (Microbial infection) Is involved in intrac [...] 9606.ENSP00000356057,TMEM181,612,"Transmembrane protein 181; Mediates action of cytolethal distending toxins (CDT), which are secreted by many pathogenic bacteria. Expression level of TMEM181 is rate-limiting for intoxication." 9606.ENSP00000356058,FCMR,390,"Fas apoptotic inhibitory molecule 3; May play a role in the immune system processes. Protects cells from FAS-, TNF alpha- and FADD-induced apoptosis without increasing expression of the inhibitors of apoptosis BCL2 and BCLXL. Seems to activate an inhibitory pathway that prevents CASP8 activation following FAS stimulation, rather than blocking apoptotic signals downstream. May inhibit FAS-induced apoptosis by preventing CASP8 processing through CFLAR up-regulation." 9606.ENSP00000356064,TULP4,1543,Tubby-related protein 4; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the TUB family. 9606.ENSP00000356065,IL20,176,Interleukin-20; Proinflammatory and angiogenic cytokine that may be involved in epidermal function and psoriasis. Angiogenic and proliferative activities are antagonized by IL10. May act through STAT3. 9606.ENSP00000356070,MAPKAPK2,400,"MAP kinase-activated protein kinase 2; Stress-activated serine/threonine-protein kinase involved in cytokine production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, CEP131, ELAVL1, HNRNPA0, HSP27/HSPB1, KRT1 [...] " 9606.ENSP00000356076,DYRK3,588,"Dual specificity tyrosine-phosphorylation-regulated kinase 3; Dual-specificity protein kinase that promotes disassembly of several types of membraneless organelles during mitosis, such as stress granules, nuclear speckles and pericentriolar material. Dual-specificity tyrosine-regulated kinases (DYRKs) autophosphorylate a critical tyrosine residue in their activation loop and phosphorylate their substrate on serine and threonine residues. Acts as a central dissolvase of membraneless organelles during the G2-to-M transition, after the nuclear-envelope breakdown: acts by mediating phospho [...] " 9606.ENSP00000356093,RHEX,172,Regulator of hemoglobinization and erythroid cell expansion protein; Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation. 9606.ENSP00000356094,AVPR1B,424,Vasopressin V1b receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. 9606.ENSP00000356096,FAM72A,149,Protein FAM72A; May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation. Belongs to the FAM72 family. 9606.ENSP00000356102,SLC26A9,887,"Solute carrier family 26 member 9; DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family." 9606.ENSP00000356104,PM20D1,502,"N-fatty-acyl-amino acid synthase/hydrolase PM20D1; Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration." 9606.ENSP00000356105,SLC41A1,513,Solute carrier family 41 member 1; Acts as a magnesium transporter that is responsive to magnesium balance. 9606.ENSP00000356107,RAB29,203,"Ras-related protein Rab-7L1; The small GTPases Rab are key regulators in vesicle trafficking. Essential for maintaining the integrity of the endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Recruits LRRK2 to the Golgi complex and stimulates LRRK2 kinase activity. Regulates neuronal process morphology in the intact central nervous system (CNS) (By similarity). May play [...] " 9606.ENSP00000356110,NUCKS1,243,Nuclear casein kinase and cyclin dependent kinase substrate 1. 9606.ENSP00000356113,SLC45A3,553,Solute carrier family 45 member 3; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. 9606.ENSP00000356115,MFSD4A,514,Major facilitator superfamily domain containing 4A. 9606.ENSP00000356121,LEMD1,181,LEM domain containing 1. 9606.ENSP00000356124,KLHDC8A,350,Kelch domain containing 8A. 9606.ENSP00000356130,DSTYK,929,"Dual serine/threonine and tyrosine protein kinase; Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death. In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types." 9606.ENSP00000356133,CLDN20,219,"Claudin-20; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000356134,TFB1M,346,"Dimethyladenosine transferase 1, mitochondrial; S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity." 9606.ENSP00000356135,TMEM81,255,Transmembrane protein 81. 9606.ENSP00000356143,LRRN2,713,Leucine rich repeat neuronal 2. 9606.ENSP00000356150,MDM4,490,Protein Mdm4; Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions; Belongs to the MDM2/MDM4 family. 9606.ENSP00000356155,PIK3C2B,1634,"Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta; Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved in EGF and PDGF signaling cascades; Belongs to the PI3/PI4-kinase family." 9606.ENSP00000356156,PPP1R15B,713,Protein phosphatase 1 regulatory subunit 15B; Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1. Belongs to the PPP1R15 family. 9606.ENSP00000356162,KISS1,138,"Metastasis-suppressor KiSS-1; Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C- terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation product, isolated in conditioned medium of first trimester trophobl [...] " 9606.ENSP00000356169,ETNK2,394,Ethanolamine kinase 2; Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity). 9606.ENSP00000356172,SOX13,622,Transcription factor SOX-13; Binds to the sequence 5'-AACAAT-3'. 9606.ENSP00000356191,OPTC,332,"Opticin; Inhibits angiogenesis in the vitreous humor of the eye, and therefore represses neovascularization (By similarity). Binds collagen fibrils (By similarity). May be involved in collagen fiber organization via regulation of other members of the small leucine-rich repeat proteoglycan superfamily (By similarity)." 9606.ENSP00000356198,CHIT1,466,"Chitotriosidase-1; Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity." 9606.ENSP00000356202,MTRF1L,380,"Peptide chain release factor 1-like, mitochondrial; Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG." 9606.ENSP00000356205,ADORA1,326,Adenosine receptor A1; Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000356211,TMEM183A,376,Transmembrane protein 183A. 9606.ENSP00000356213,VIP,170,"Vasoactive intestinal peptide; VIP causes vasodilation, lowers arterial blood pressure, stimulates myocardial contractility, increases glycogenolysis and relaxes the smooth muscle of trachea, stomach and gall bladder." 9606.ENSP00000356214,MYCT1,235,"Myc target protein 1; May regulate certain MYC target genes, MYC seems to be a direct upstream transcriptional activator. Does not seem to significantly affect growth cell capacity. Overexpression seems to mediate many of the known phenotypic features associated with MYC, including promotion of apoptosis, alteration of morphology, enhancement of anchorage-independent growth, tumorigenic conversion, promotion of genomic instability, and inhibition of hematopoietic differentiation (By similarity)." 9606.ENSP00000356218,CYB5R1,305,"NADH-cytochrome b5 reductase 1; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family." 9606.ENSP00000356224,SYNE1,8797,Nesprin-1; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus- centrosome attachment and nuclear migrati [...] 9606.ENSP00000356230,KLHL12,568,"Kelch-like protein 12; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport. The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts w [...] " 9606.ENSP00000356231,RABIF,123,"Guanine nucleotide exchange factor MSS4; Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP release from both YPT1 and RAB3A, but is less active on these proteins than on the SEC4 protein. Might play a general role in vesicular transport; Belongs to the DSS4/MSS4 family." 9606.ENSP00000356233,KDM5B,1580,"Lysine-specific demethylase 5B; Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5. In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock [...] " 9606.ENSP00000356237,SYT2,419,Synaptotagmin-2; Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes. Belongs to the synaptotagmin family. 9606.ENSP00000356247,LGR6,967,"Leucine-rich repeat-containing G-protein coupled receptor 6; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as [...] " 9606.ENSP00000356251,GPR37L1,481,"G-protein coupled receptor 37-like 1; G-protein coupled receptor. Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade. However, other studies have shown that prosaposin does not increase activity. It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha. Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway (By similarity). Regulates baseline blood pr [...] " 9606.ENSP00000356256,TIMM17A,171,"Mitochondrial import inner membrane translocase subunit Tim17-A; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane." 9606.ENSP00000356257,LMOD1,600,Leiomodin-1; Mediates nucleation of actin filaments. Belongs to the tropomodulin family. 9606.ENSP00000356263,ARMT1,441,"Damage-control phosphatase ARMT1; Metal-dependent phosphatase that shows phosphatase activity against several substrates, including fructose-1-phosphate and fructose-6-phosphate (By similarity). Its preference for fructose-1- phosphate, a strong glycating agent that causes DNA damage rather than a canonical yeast metabolite, suggests a damage-control function in hexose phosphate metabolism (By similarity). Has also been shown to have O-methyltransferase activity that methylates glutamate residues of target proteins to form gamma-glutamyl methyl ester residues. Possibly methylates PCNA, [...] " 9606.ENSP00000356265,NAV1,1877,Neuron navigator 1; May be involved in neuronal migration. 9606.ENSP00000356275,CSRP1,193,Cysteine and glycine-rich protein 1; Could play a role in neuronal development. 9606.ENSP00000356280,PHLDA3,127,"Pleckstrin homology-like domain family A member 3; p53/TP53-regulated repressor of Akt/AKT1 signaling. Represses AKT1 by preventing AKT1-binding to membrane lipids, thereby inhibiting AKT1 translocation to the cellular membrane and activation. Contributes to p53/TP53-dependent apoptosis by repressing AKT1 activity. Its direct transcription regulation by p53/TP53 may explain how p53/TP53 can negatively regulate AKT1. May act as a tumor suppressor. Belongs to the PHLDA3 family." 9606.ENSP00000356301,TMEM9,186,Transmembrane protein 9; May be involved in intracellular transport. 9606.ENSP00000356308,ULBP3,244,"UL16-binding protein 3; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity; Belongs to the MHC class I family." 9606.ENSP00000356310,RAET1L,246,"UL16-binding protein 6; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity; Belongs to the MHC class I family." 9606.ENSP00000356319,KIF14,1648,"Kinesin-like protein KIF14; Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis. During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively. Regulates cell growth through regulation of cell cycle progression and cytokinesis. During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic [...] " 9606.ENSP00000356320,ULBP2,246,"UL16-binding protein 2; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity." 9606.ENSP00000356329,RAET1G,334,"UL-16 binding protein 5; [Isoform 1]: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. [Isoform 2]: Stimulates natural killer cells to secrete IFNG. Belongs to the MHC class I family." 9606.ENSP00000356331,NR5A2,541,"Nuclear receptor subfamily 5 group A member 2; Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti- inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex. Binds to the sequence e [...] " 9606.ENSP00000356355,NEK7,302,"Serine/threonine-protein kinase Nek7; Protein kinase which plays an important role in mitotic cell cycle progression. Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis. Phosphorylates RPS6KB1." 9606.ENSP00000356357,LHX9,397,LIM/homeobox protein Lhx9; Involved in gonadal development. 9606.ENSP00000356363,C1orf53,145,Uncharacterized protein C1orf53; Chromosome 1 open reading frame 53. 9606.ENSP00000356370,CRB1,1406,Protein crumbs homolog 1; Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion; Belongs to the Crumbs protein family. 9606.ENSP00000356375,ZBTB41,909,Zinc finger and BTB domain-containing protein 41; May be involved in transcriptional regulation. 9606.ENSP00000356379,ASPM,3477,"Abnormal spindle-like microcephaly-associated protein; Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex [...] " 9606.ENSP00000356381,KATNA1,491,"Katanin p60 ATPase-containing subunit A1; Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal p [...] " 9606.ENSP00000356382,F13B,661,"Coagulation factor XIII B chain; The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin." 9606.ENSP00000356385,CFHR2,270,Complement factor H-related protein 2; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism. 9606.ENSP00000356386,CFHR4,577,Complement factor H-related protein 4; Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism. 9606.ENSP00000356389,GINM1,330,Glycoprotein integral membrane 1. 9606.ENSP00000356395,CFHR3,330,Complement factor H-related protein 3; Might be involved in complement regulation. 9606.ENSP00000356399,CFH,1231,"Complement factor H; Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces. Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop. As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradati [...] " 9606.ENSP00000356404,B3GALT2,422,"Beta-1,3-galactosyltransferase 2; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N- acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha- GalNAc) residues." 9606.ENSP00000356405,CDC73,531,Parafibromin; Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional [...] 9606.ENSP00000356410,GLRX2,165,"Glutaredoxin-2, mitochondrial; Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylat [...] " 9606.ENSP00000356416,RO60,538,"60 kDa SS-A/Ro ribonucleoprotein; RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. May stabilize some of these RNAs and protect them from degradation. Binds to endogenous Alu retroelements which are induced by type I interferon and stimulate porinflammaotry cytokine secretion. Regulates the expression of Alu retroelements as well as inflammatory genes. Belongs to the Ro 60 kDa family." 9606.ENSP00000356421,UCHL5,355,Ubiquitin carboxyl-terminal hydrolase isozyme L5; Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1. 9606.ENSP00000356426,TAB2,693,TGF-beta-activated kinase 1 and MAP3K7-binding protein 2; Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of 'Lys-63'-linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at 'Thr-187'. Involved in heart development. 9606.ENSP00000356429,RGS1,209,"Regulator of G-protein signaling 1; Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors. Inhibits B cell chemotaxis toward CXCL12 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form." 9606.ENSP00000356430,RGS18,235,"Regulator of G-protein signaling 18; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha-2, G(i) alpha-3 and G(q) alpha." 9606.ENSP00000356432,BRINP3,766,"BMP/retinoic acid-inducible neural-specific protein 3; Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development. Belongs to the BRINP family." 9606.ENSP00000356433,UST,406,"Uronyl 2-sulfotransferase; Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N- resulfated heparin." 9606.ENSP00000356436,PLA2G4A,749,"Cytosolic phospholipase A2; Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response." 9606.ENSP00000356437,SASH1,1247,"SAM and SH3 domain-containing protein 1; Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation. Regulates TRAF6 and MAP3K7 ubiquitination. Involved in the regulation of cell mobility. Regulates lipolysaccharide (LPS)-induced endothelial cell migration. Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis." 9606.ENSP00000356438,PTGS2,604,"Prostaglandin G/H synthase 2; Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis. Constitutively expressed in some tissues in physiological conditions, such as the endothelium, kidney and brain, and in pathological conditions, such as in cancer. PTGS2 is responsible for production of inflammatory prostaglandins. Up-regulation of PTGS2 is also associated with increased cell adhesion, phenotypic changes, resistance to apoptosis and tumor angiogenesis. In cancer cells, PTGS2 is a key step in the production of prostaglandin E2 (PGE2), which plays imp [...] " 9606.ENSP00000356444,SAMD5,173,Sterile alpha motif domain containing 5. 9606.ENSP00000356448,TPR,2363,"Nucleoprotein TPR; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA [...] " 9606.ENSP00000356465,RAB32,225,"Ras-related protein Rab-32; Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays an important role in the control of melanin production and melanosome biogenesis. In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). Belongs to the smal [...] " 9606.ENSP00000356468,IVNS1ABP,642,"Influenza virus NS1A-binding protein; Involved in many cell functions, including pre-mRNA splicing, the aryl hydrocarbon receptor (AHR) pathway, F-actin organization and protein ubiquitination. Plays a role in the dynamic organization of the actin skeleton as a stabilizer of actin filaments by association with F-actin through Kelch repeats (By similarity). Protects cells from cell death induced by actin destabilization (By similarity). Functions as modifier of the AHR/Aryl hydrocarbon receptor pathway increasing the concentration of AHR available to activate transcription. In addition, [...] " 9606.ENSP00000356470,SWT1,900,Transcriptional protein SWT1; SWT1 RNA endoribonuclease homolog. 9606.ENSP00000356476,TRMT1L,733,TRMT1-like protein; May play a role in motor coordination and exploratory behavior. 9606.ENSP00000356480,RNF2,336,"E3 ubiquitin-protein ligase RING2; E3 ubiquitin-protein ligase that mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), thereby playing a central role in histone code and gene regulation. H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation (By similarity). Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state [...] " 9606.ENSP00000356481,NIBAN1,928,"Protein Niban 1; Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity)." 9606.ENSP00000356489,EPM2A,331,"Laforin; Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Dephosphorylates phosphotyrosine and synthetic substrates, such as para- nitrophenylphosphat [...] " 9606.ENSP00000356505,NCF2,526,"Neutrophil cytosol factor 2; NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production)." 9606.ENSP00000356515,UTRN,3433,Utrophin; May play a role in anchoring the cytoskeleton to the plasma membrane. 9606.ENSP00000356518,SHCBP1L,653,"Testicular spindle-associated protein SHCBP1L; Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells." 9606.ENSP00000356520,DHX9,1270,"ATP-dependent RNA helicase A; Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing. Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo- nucleotide triphosphates (NTPs). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA [...] " 9606.ENSP00000356529,RGS16,202,"Regulator of G-protein signaling 16; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP- bound form. Plays an important role in the phototransduction cascade by regulating the lifetime and effective concentration of activated transducin alpha. May regulate extra and intracellular mitogenic signals (By similarity)." 9606.ENSP00000356530,RNASEL,741,"2-5A-dependent ribonuclease; Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL [...] " 9606.ENSP00000356536,TEDDM1,273,Transmembrane epididymal protein 1. 9606.ENSP00000356540,STX11,287,Syntaxin-11; SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. 9606.ENSP00000356541,SF3B5,86,"Splicing factor 3B subunit 5; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex, a constituent of the spliceosome. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA." 9606.ENSP00000356545,CACNA1E,2313,"Voltage-dependent R-type calcium channel subunit alpha-1E; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels con [...] " 9606.ENSP00000356548,LTV1,475,Protein LTV1 homolog; LTV1 ribosome biogenesis factor. 9606.ENSP00000356549,IER5,327,Immediate early response gene 5 protein; Plays a role as a transcription factor. Mediates positive transcriptional regulation of several chaperone genes during the heat shock response in a HSF1- dependent manner. Mediates negative transcriptional regulation of CDC25B expression. Plays a role in the dephosphorylation of the heat shock factor HSF1 and ribosomal protein S6 kinase (S6K) by the protein phosphatase PP2A. Involved in the regulation of cell proliferation and resistance to thermal stress. Involved in the cell cycle checkpoint and survival in response to ionizing radiation. Asso [...] 9606.ENSP00000356560,KIAA1614,1190,Uncharacterized protein KIAA1614; KIAA1614. 9606.ENSP00000356562,XPR1,696,"Xenotropic and polytropic retrovirus receptor 1; Plays a role in phosphate homeostasis. Mediates phosphate export from the cell. Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5-InsP7); these are important intracellular signaling molecules." 9606.ENSP00000356563,PEX3,373,"Peroxisomal biogenesis factor 3; Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes; Belongs to the peroxin-3 family." 9606.ENSP00000356574,QSOX1,747,"Sulfhydryl oxidase 1; Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. Plays a role in disulfide bond formation in a variety of extracellular proteins. In fibroblasts, required for normal incorporation of laminin into the extracellular matrix, and thereby for normal cell-cell adhesion and cell migration." 9606.ENSP00000356576,HIVEP2,2446,"Transcription factor HIVEP2; This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T- cell activation." 9606.ENSP00000356579,CEP350,3117,"Centrosome-associated protein 350; Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity. Required for ciliation." 9606.ENSP00000356581,ADGRG6,1250,"Adhesion G-protein coupled receptor G6; G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins. Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Regulates neural, cardiac and ear development via G-protein- and/or N-terminus- dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity)." 9606.ENSP00000356584,TOR1AIP2,470,"Torsin-1A-interacting protein 2; Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity. Belongs to the TOR1AIP family." 9606.ENSP00000356587,NPHS2,383,"Podocin; Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton." 9606.ENSP00000356590,AXDND1,1012,Axonemal dynein light chain domain containing 1. 9606.ENSP00000356591,SOAT1,550,"Sterol O-acyltransferase 1; Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase." 9606.ENSP00000356599,TOR3A,397,Torsin-3A; Torsin family 3 member A. 9606.ENSP00000356602,VTA1,307,"Vacuolar protein sorting-associated protein VTA1 homolog; Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR (By similarity). Involv [...] " 9606.ENSP00000356607,RALGPS2,583,Ras-specific guanine nucleotide-releasing factor RalGPS2; Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity). 9606.ENSP00000356621,RASAL2,1280,Ras GTPase-activating protein nGAP; Inhibitory regulator of the Ras-cyclic AMP pathway. 9606.ENSP00000356630,HECA,543,Headcase protein homolog; May play an important role in some human cancers. May be part of the regulatory mechanism in the development of epithelial tube networks such as the circulatory system and lungs. 9606.ENSP00000356632,ABRACL,81,Costars family protein ABRACL; ABRA C-terminal like; Belongs to the costars family. 9606.ENSP00000356634,PAPPA2,1791,Pappalysin-2; Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3. Belongs to the peptidase M43B family. 9606.ENSP00000356641,COP1,731,"E3 ubiquitin-protein ligase COP1; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activity [...] " 9606.ENSP00000356646,TNR,1358,"Tenascin-R; Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2/FAK1 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repuls [...] " 9606.ENSP00000356652,CACYBP,228,Calcyclin-binding protein; May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1). 9606.ENSP00000356658,GPR52,361,"G-protein coupled receptor 52; Gs-coupled receptor activated by antipsychotics reserpine leading to an increase in intracellular cAMP and its internalization. May play a role in locomotor activity through modulation of dopamine, NMDA and ADORA2A-induced locomotor activity. These behavioral changes are accompanied by modulation of the dopamine receptor signaling pathway in striatum. Modulates HTT level via cAMP-dependent but PKA independent mechanisms throught activation of RAB39B that translocates HTT to the endoplasmic reticulum, thus avoiding proteasome degradation." 9606.ENSP00000356669,RC3H1,1133,"Roquin-1; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs. Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tf [...] " 9606.ENSP00000356671,SERPINC1,464,"Antithrombin-III; Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin." 9606.ENSP00000356674,ZBTB37,503,Zinc finger and BTB domain-containing protein 37; May be involved in transcriptional regulation. 9606.ENSP00000356687,SLC9C2,1124,Sodium/hydrogen exchanger 11; Involved in pH regulation. 9606.ENSP00000356694,FASLG,281,"Tumor necrosis factor ligand superfamily member 6, membrane form; Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells. Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development. Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen- activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis has also a role in the induction of peripheral tolerance (By similarity). Binds to TNFRSF6B/DcR3, a decoy receptor th [...] " 9606.ENSP00000356696,SUCO,1405,SUN domain-containing ossification factor; Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity). 9606.ENSP00000356700,C1orf105,183,Uncharacterized protein C1orf105; Chromosome 1 open reading frame 105. 9606.ENSP00000356702,PIGC,297,"Phosphatidylinositol N-acetylglucosaminyltransferase subunit C; Involved in GPI anchor biosynthesis. Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (ECO:0000269|. Belongs to the PIGC family." 9606.ENSP00000356708,OLIG3,272,Oligodendrocyte transcription factor 3; May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress specification of class B neurons. 9606.ENSP00000356713,IFNGR1,489,Interferon gamma receptor 1; Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG). Ligand binding stimulates activation of the JAK/STAT signaling pathway. Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents. 9606.ENSP00000356723,FMO4,558,Dimethylaniline monooxygenase [N-oxide-forming] 4; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. 9606.ENSP00000356729,FMO3,532,"Dimethylaniline monooxygenase [N-oxide-forming] 3; Essential hepatic enzyme that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including drugs as well as dietary compounds. Plays an important role in the metabolism of trimethylamine (TMA), via the production of trimethylamine N-oxide (TMAO) metabolite. TMA is generated by the action of gut microbiota using dietary precursors such as choline, choline containing compounds, betaine or L-carnitine. By regulating TMAO concentration, FMO3 directly impacts both platelet responsiveness and rate of thr [...] " 9606.ENSP00000356733,MROH9,861,Maestro heat like repeat family member 9. 9606.ENSP00000356737,GORAB,394,"Golgin, RAB6 interacting." 9606.ENSP00000356746,SCYL3,742,Protein-associating with the carboxyl-terminal domain of ezrin; May play a role in regulating cell adhesion/migration complexes in migrating cells. 9606.ENSP00000356771,F5,2224,Coagulation factor V heavy chain; Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin. 9606.ENSP00000356780,CCDC181,509,Coiled-coil domain-containing protein 181; Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids. Belongs to the CCDC181 family. 9606.ENSP00000356782,BLZF1,400,Golgin-45; Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface. 9606.ENSP00000356785,NME7,376,"Nucleoside diphosphate kinase 7; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate; Belongs to the NDK family." 9606.ENSP00000356790,ATP1B1,303,"Sodium/potassium-transporting ATPase subunit beta-1; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane." 9606.ENSP00000356791,DPT,201,"Dermatopontin; Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity)." 9606.ENSP00000356792,XCL1,114,"Lymphotactin; Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment. Belongs to the intercrine gamma family." 9606.ENSP00000356793,XCL2,114,Cytokine SCM-1 beta; Chemotactic activity for lymphocytes but not for monocytes or neutrophils. 9606.ENSP00000356795,TBX19,448,T-box transcription factor TBX19; Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. 9606.ENSP00000356807,TIPRL,272,TIP41-like protein; May be a allosteric regulator of serine/threonine-protein phosphatase 2A (PP2A). Isoform 1 inhibits catalytic activity of the PP2A(D) core complex in vitro. The PP2A(C):TIPRL complex does not show phosphatase activity. Acts as negative regulator of serine/threonine- protein phosphatase 4 probably by inhibiting the formation of the active PPP4C:PPP4R2 complex; the function is proposed to implicate it in DNA damage response by promoting H2AX phosphorylated on Ser-140 (gamma-H2AX). May play a role in the regulation of ATM/ATR signaling pathway controlling DNA replicati [...] 9606.ENSP00000356811,HBS1L,684,HBS1-like protein; HBS1 like translational GTPase; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. 9606.ENSP00000356814,DCAF6,951,DDB1- and CUL4-associated factor 6; Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000356825,ADCY10,1610,"Adenylate cyclase type 10; Catalyzes the formation of the signaling molecule cAMP. May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels. Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization (By similarity). Involved in ciliary beat regulation." 9606.ENSP00000356828,RCSD1,416,CapZ-interacting protein; Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly. 9606.ENSP00000356832,SGK1,526,"Serine/threonine-protein kinase Sgk1; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peri [...] " 9606.ENSP00000356840,POU2F1,766,"POU domain, class 2, transcription factor 1; Transcription factor that binds to the octamer motif (5'- ATTTGCAT-3') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR (By similarity). In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes." 9606.ENSP00000356842,GPA33,319,Cell surface A33 antigen; May play a role in cell-cell recognition and signaling. 9606.ENSP00000356846,MAEL,434,"Protein maelstrom homolog; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic n [...] " 9606.ENSP00000356848,TADA1,335,Transcriptional adapter 1; Probably involved in transcriptional regulation. 9606.ENSP00000356849,POGK,609,Pogo transposable element derived with KRAB domain. 9606.ENSP00000356853,UCK2,261,"Uridine-cytidine kinase 2; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6- azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)- acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine; Belongs to the uridine kinase family." 9606.ENSP00000356857,TCF21,179,Transcription factor 21; Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types. 9606.ENSP00000356864,MGST3,152,Microsomal glutathione S-transferase 3; Catalyzes oxydation of hydroxy-fatty acids. Also catalyzes the conjugation of a reduced glutathione to leukotriene A4 in vitro. May participate to the lipid metabolism ; Belongs to the MAPEG family. 9606.ENSP00000356886,CCDC190,302,Coiled-coil domain containing 190. 9606.ENSP00000356899,DDR2,855,"Discoidin domain-containing receptor 2; Tyrosine kinase involved in the regulation of tissues remodeling. It functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up- regulation of the collagenases MMP1, MM [...] " 9606.ENSP00000356905,VNN1,513,Pantetheinase; Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine; Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. 9606.ENSP00000356906,SH2D1B,132,"SH2 domain-containing protein 1B; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244. In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation. Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By simila [...] " 9606.ENSP00000356908,TAAR2,351,Trace amine-associated receptor 2; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000356912,SPATA46,261,Spermatogenesis-associated protein 46; Plays a role in spermiogenesis and fertilization. 9606.ENSP00000356917,OLFML2B,751,Olfactomedin-like protein 2B; Olfactomedin like 2B. 9606.ENSP00000356918,STX7,261,Syntaxin-7; May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes; Belongs to the syntaxin family. 9606.ENSP00000356919,ATF6,670,"Processed cyclic AMP-dependent transcription factor ATF-6 alpha; Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT- N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Bi [...] " 9606.ENSP00000356920,DUSP12,340,"Dual specificity protein phosphatase 12; Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues. Can dephosphorylate glucokinase (in vitro) (By similarity). Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate and other in vitro substrates." 9606.ENSP00000356925,FCRLB,426,Fc receptor like B. 9606.ENSP00000356936,FCRLA,382,Fc receptor-like A; May be implicated in B-cell differentiation and lymphomagenesis. 9606.ENSP00000356940,MOXD1,613,Monooxygenase DBH like 1. 9606.ENSP00000356946,FCGR3A,359,"Low affinity immunoglobulin gamma Fc region receptor III-A; Receptor for the Fc region of IgG. Binds complexed or aggregated IgG and also monomeric IgG. Mediates antibody-dependent cellular cytotoxicity (ADCC) and other antibody-dependent responses, such as phagocytosis." 9606.ENSP00000356951,CFAP126,177,Protein Flattop; Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear. 9606.ENSP00000356953,SDHC,169,"Succinate dehydrogenase cytochrome b560 subunit, mitochondrial; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q); Belongs to the cytochrome b560 family." 9606.ENSP00000356954,CCN2,349,"CCN family member 2; Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor- induced DNA synthesis; Belongs to the CCN family." 9606.ENSP00000356959,NR1I3,357,Nuclear receptor subfamily 1 group I member 3; Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element; Belongs to the nuclear hormone receptor family. NR1 subfamily. 9606.ENSP00000356967,TOMM40L,308,Mitochondrial import receptor subunit TOM40B; Potential channel-forming protein implicated in import of protein precursors into mitochondria; Belongs to the Tom40 family. 9606.ENSP00000356969,APOA2,100,"Truncated apolipoprotein A-II; May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism; Belongs to the apolipoprotein A2 family." 9606.ENSP00000356972,NDUFS2,463,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000356975,ADAMTS4,837,"A disintegrin and metalloproteinase with thrombospondin motifs 4; Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the '392-Glu-|-Ala-393' site." 9606.ENSP00000356978,PPOX,477,Protoporphyrinogen oxidase; Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. 9606.ENSP00000356981,USP21,565,"Ubiquitin carboxyl-terminal hydrolase 21; Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at 'Lys-4', resulting in regulation of transcriptional initiation. Regulates gene expression via histone H2A deubiquitination (By similarity). Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates. Deubiquitinates BAZ2A/TIP5 leading to its stabilization." 9606.ENSP00000356982,UFC1,167,Ubiquitin-fold modifier-conjugating enzyme 1; E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage; Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily. 9606.ENSP00000356984,DEDD,348,Death effector domain-containing protein; A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity). 9606.ENSP00000356988,NIT1,327,"Deaminated glutathione amidase; Catalyzes the hydrolysis of the amide bond in N-(4- oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione. Plays a role in cell growth and apoptosis: loss of expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells." 9606.ENSP00000356989,PFDN2,154,Prefoldin subunit 2; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family. 9606.ENSP00000356990,KLHDC9,349,Kelch domain containing 9. 9606.ENSP00000356991,NECTIN4,510,"Processed poliovirus receptor-related protein 4; Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells." 9606.ENSP00000356992,ARHGAP30,1101,"Rho GTPase-activating protein 30; GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42." 9606.ENSP00000357000,USF1,310,Upstream stimulatory factor 1; Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. 9606.ENSP00000357005,F11R,299,"Junctional adhesion molecule A; Seems to play a role in epithelial tight junction formation. Appears early in primordial forms of cell junctions and recruits PARD3. The association of the PARD6-PARD3 complex may prevent the interaction of PARD3 with JAM1, thereby preventing tight junction assembly (By similarity). Plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier (By similarity). Ligand for integrin alpha-L/beta-2 involved in memory T- cell and neutrophil transmigration. Involved in platelet activation. (Microbial infection) Acts as a recept [...] " 9606.ENSP00000357008,ITLN2,325,Intelectin-2; May play a role in the defense system against pathogens. 9606.ENSP00000357012,CD244,370,"Natural killer cell receptor 2B4; Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor. Activating functi [...] " 9606.ENSP00000357022,SLAMF7,335,"SLAM family member 7; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal-regulated ERK-me [...] " 9606.ENSP00000357036,SLAMF6,332,"SLAM family member 6; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natur [...] " 9606.ENSP00000357040,VANGL2,521,"Vang-like protein 2; Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity)." 9606.ENSP00000357047,MED23,1368,"Mediator of RNA polymerase II transcription subunit 23; Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functi [...] " 9606.ENSP00000357048,COPA,1233,"Coatomer subunit alpha; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also inf [...] " 9606.ENSP00000357051,PEX19,299,"Peroxisomal biogenesis factor 19; Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53." 9606.ENSP00000357052,DCAF8,597,DDB1- and CUL4-associated factor 8; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000357055,PEA15,151,Astrocytic phosphoprotein PEA-15; Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm (By similarity). Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface. 9606.ENSP00000357057,CASQ1,396,"Calsequestrin-1; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity." 9606.ENSP00000357060,ATP1A4,1029,"Sodium/potassium-transporting ATPase subunit alpha-4; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility." 9606.ENSP00000357065,IGSF8,613,"Immunoglobulin superfamily member 8; May play a key role in diverse functions ascribed to CD81 and CD9 such as oocytes fertilization or hepatitis C virus function. May regulate proliferation and differentiation of keratinocytes. May be a negative regulator of cell motility: suppresses T-cell mobility coordinately with CD81, associates with CD82 to suppress prostate cancer cell migration, regulates epidermoid cell reaggregation and motility on laminin-5 with CD9 and CD81 as key linkers. May also play a role on integrin-dependent morphology and motility functions. May participate in the [...] " 9606.ENSP00000357067,KCNJ9,393,"G protein-activated inward rectifier potassium channel 3; This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium (By similarity); Belongs to the inward rectifier-type potass [...] " 9606.ENSP00000357069,PIGM,423,"GPI mannosyltransferase 1; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN- acyl-PI during GPI precursor assembly; Belongs to the PIGM family." 9606.ENSP00000357072,SLAMF9,289,SLAM family member 9; May play a role in the immune response. 9606.ENSP00000357073,IGSF9,1179,Protein turtle homolog A; Functions in dendrite outgrowth and synapse maturation. Belongs to the immunoglobulin superfamily. Turtle family. 9606.ENSP00000357076,TAGLN2,220,Transgelin-2; Transgelin 2. 9606.ENSP00000357079,CFAP45,551,Cilia and flagella associated protein 45. 9606.ENSP00000357080,VSIG8,414,V-set and immunoglobulin domain containing 8. 9606.ENSP00000357086,FCRL6,434,"Fc receptor-like protein 6; Acts as a MHC class II receptor. When stimulated on its own, does not play a role in cytokine production or the release of cytotoxic granules by NK cells and cytotoxic CD8(+) T cells. Does not act as an Fc receptor." 9606.ENSP00000357087,DUSP23,150,"Dual specificity protein phosphatase 23; Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14). Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000357097,FCER1A,257,High affinity immunoglobulin epsilon receptor subunit alpha; Binds to the Fc region of immunoglobulins epsilon. High affinity receptor. Responsible for initiating the allergic response. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. The same receptor also induces the secretion of important lymphokines. 9606.ENSP00000357103,ACKR1,338,"Atypical chemokine receptor 1; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine- binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for [...] " 9606.ENSP00000357106,CADM3,432,"Cell adhesion molecule 3; Involved in the cell-cell adhesion. Has both calcium- independent homophilic cell-cell adhesion activity and calcium- independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity)." 9606.ENSP00000357110,EPB41L2,1005,Band 4.1-like protein 2; Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase. 9606.ENSP00000357112,AIM2,343,"Interferon-inducible protein AIM2; Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppr [...] " 9606.ENSP00000357113,IFI16,729,Gamma-interferon-inducible protein 16; Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA bi [...] 9606.ENSP00000357118,L3MBTL3,780,"Lethal(3)malignant brain tumor-like protein 3; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Required for normal maturation of myeloid progenitor cells (By similarity)." 9606.ENSP00000357122,PYHIN1,492,"Pyrin and HIN domain-containing protein 1; Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells." 9606.ENSP00000357123,MNDA,407,Myeloid cell nuclear differentiation antigen; May act as a transcriptional activator/repressor in the myeloid lineage. Plays a role in the granulocyte/monocyte cell-specific response to interferon. Stimulates the DNA binding of the transcriptional repressor protein YY1. 9606.ENSP00000357125,TMEM244,128,Transmembrane protein 244. 9606.ENSP00000357126,OR6K6,343,Olfactory receptor 6K6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000357127,OR6K3,315,Olfactory receptor 6K3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000357131,ARHGAP18,663,"Rho GTPase-activating protein 18; Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state. Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1. Regulates cell shape, spreading, and migration." 9606.ENSP00000357134,OR10R2,335,Olfactory receptor 10R2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000357149,CD1E,388,"T-cell surface glycoprotein CD1e, membrane-associated; T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active." 9606.ENSP00000357150,CD1B,333,T-cell surface glycoprotein CD1b; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells. 9606.ENSP00000357152,CD1C,333,T-cell surface glycoprotein CD1c; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells. 9606.ENSP00000357156,CD5L,347,"CD5 antigen-like; Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflamed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis. Able to inhibit lipid droplet size in adipocytes. Following incorporation into mature adipocytes via CD36- mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA). CD5L-induced lipolysis occurs with progression o [...] " 9606.ENSP00000357158,FCRL1,429,Fc receptor-like protein 1; May function as an activating coreceptor in B-cells. May function in B-cells activation and differentiation. 9606.ENSP00000357169,FCRL3,742,"Fc receptor-like protein 3; Promotes TLR9-induced B-cell proliferation, activation and survival but inhibits antibody production and suppresses plasma cell differentiation. Enhances activation of NF-kappa-B and MAPK signaling pathways in TLR9 stimulated B-cells. Has inhibitory potentional on B-cell receptor (BCR)-mediated signaling, possibly through association with SH2 domain-containing phosphatases. Inhibits cell tyrosine phosphorylation, calcium mobilization and activation- induced cell death induced through BCR signaling. Regulatory T-cells expressing FCRL3 exhibit a memory phenoty [...] " 9606.ENSP00000357175,ETV3,512,ETS translocation variant 3; Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity. 9606.ENSP00000357177,ARHGEF11,1562,Rho guanine nucleotide exchange factor 11; May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Involved in neurotrophin-induced neurite outgrowth. 9606.ENSP00000357178,INSRR,1297,Insulin receptor-related protein alpha chain; Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB. 9606.ENSP00000357189,HDGF,256,Hepatoma-derived growth factor; [Isoform 1]: Acts as a transcriptional repressor. Has mitogenic activity for fibroblasts. Heparin-binding protein. [Isoform 3]: Has mitogenic activity for fibroblasts. Heparin-binding protein. Belongs to the HDGF family. 9606.ENSP00000357199,RRNAD1,475,Protein RRNAD1; Ribosomal RNA adenine dimethylase domain containing 1; Belongs to the RRNAD1 family. 9606.ENSP00000357206,NES,1621,"Nestin; Required for brain and eye development. Promotes the disassembly of phosphorylated vimentin intermediate filaments (IF) during mitosis and may play a role in the trafficking and distribution of IF proteins and other cellular factors to daughter cells during progenitor cell division. Required for survival, renewal and mitogen- stimulated proliferation of neural progenitor cells (By similarity)." 9606.ENSP00000357218,NAXE,288,"NAD(P)H-hydrate epimerase; Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S-specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX; Belongs to the NnrE/AIBP family." 9606.ENSP00000357219,TTC24,582,Tetratricopeptide repeat domain 24. 9606.ENSP00000357238,TSACC,125,TSSK6-activating co-chaperone protein; Co-chaperone that facilitates HSP-mediated activation of TSSK6; Belongs to the TSACC family. 9606.ENSP00000357255,BGLAP,100,Osteocalcin; Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium. 9606.ENSP00000357256,PMF1,207,Polyamine-modulated factor 1; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT. 9606.ENSP00000357265,SEMA4A,761,"Semaphorin-4A; Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity). Regulates glutamatergic and GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner and promotes the development of excitatory synapses in a PLXNB2-dependent manner (By similarity). Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T- helper cells, and thereby contributes to adaptive immunity (By similarity). Promotes phosphorylation of TIMD2 (By [...] " 9606.ENSP00000357283,LMNA,664,"Prelamin-A/C; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. A [...] " 9606.ENSP00000357288,LAMTOR2,125,"Ragulator complex protein LAMTOR2; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V- ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP k [...] " 9606.ENSP00000357292,UBQLN4,601,"Ubiquilin-4; Regulator of protein degradation that mediates the proteasomal targeting of misfolded, mislocalized or accumulated proteins. Acts by binding polyubiquitin chains of target proteins via its UBA domain and by interacting with subunits of the proteasome via its ubiquitin-like domain. Key regulator of DNA repair that represses homologous recombination repair: in response to DNA damage, recruited to sites of DNA damage following phosphorylation by ATM and acts by binding and removing ubiquitinated MRE11 from damaged chromatin, leading to MRE11 degradation by the proteasome. MRE [...] " 9606.ENSP00000357297,RNF146,359,"E3 ubiquitin-protein ligase RNF146; E3 ubiquitin-protein ligase that specifically binds poly-ADP- ribosylated (PARsylated) proteins and mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2, BLZF1, CA [...] " 9606.ENSP00000357301,RXFP4,374,"Relaxin-3 receptor 2; High affinity receptor for INSL5. Also acts as receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000357304,KHDC4,614,KH homology domain-containing protein 4; RNA-binding protein involved in pre-mRNA splicing. Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome. Involved in regulating splice site selection. Binds preferentially RNA with A/C rich sequences and poly-C stretches ; Belongs to the KHDC4 family. 9606.ENSP00000357305,RIT1,236,"GTP-binding protein Rit1; Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF- dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation; Belongs to the small GTPase superfamily. Ras family." 9606.ENSP00000357307,SYT11,431,"Synaptotagmin-11; Synaptotagmin family member involved in vesicular and membrane trafficking which does not bind Ca(2+). Inhibits clathrin- mediated and bulk endocytosis, functions to ensure precision in vesicle retrieval. Plays an important role in dopamine transmission by regulating endocytosis and the vesicle-recycling process. Essential component of a neuronal vesicular trafficking pathway that differs from the synaptic vesicle trafficking pathway but is crucial for development and synaptic plasticity. In macrophages and microglia, inhibits the conventional cytokine secretion, of a [...] " 9606.ENSP00000357308,CENPW,103,"Centromere protein W; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation (By similarity). The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres (By similarity). Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP [...] " 9606.ENSP00000357315,GON4L,2241,"GON-4-like protein; Has transcriptional repressor activity, probably as part of a complex with YY1, SIN3A AND HDAC1. Required for B cell lymphopoiesis." 9606.ENSP00000357320,DAP3,398,"28S ribosomal protein S29, mitochondrial; Involved in mediating interferon-gamma-induced cell death; Belongs to the mitochondrion-specific ribosomal protein mS29 family." 9606.ENSP00000357323,YY1AP1,888,"YY1-associated protein 1; Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication. Enhances transcription activation by YY1. Plays a role in cell cycle regulation." 9606.ENSP00000357336,RUSC1,902,"RUN and SH3 domain-containing protein 1; Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway." 9606.ENSP00000357342,HCN3,774,Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3; Hyperpolarization-activated potassium channel. May also facilitate the permeation of sodium ions. 9606.ENSP00000357345,CLK2,499,Dual specificity protein kinase CLK2; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine- rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Acts as a suppressor of hepatic gluconeogenesis and glucose output by repressing PPARGC1A transcriptional activity on gluconeogenic genes via its phosphorylation. Phosphor [...] 9606.ENSP00000357348,HEY2,337,Hairy/enhancer-of-split related with YRPW motif protein 2; Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6; Belongs to the HEY family. 9606.ENSP00000357360,MTX1,466,Metaxin-1; Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity). 9606.ENSP00000357362,THBS3,956,"Thrombospondin-3; Adhesive glycoprotein that mediates cell-to-cell and cell-to- matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen." 9606.ENSP00000357384,DPM3,122,Dolichol-phosphate mannosyltransferase subunit 3; Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. 9606.ENSP00000357389,SLC50A1,221,Sugar transporter SWEET1; Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1. 9606.ENSP00000357392,EFNA1,205,"Ephrin-A1, secreted form; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial c [...] " 9606.ENSP00000357393,EFNA3,238,"Ephrin-A3; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity)." 9606.ENSP00000357402,NKAIN2,208,Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2; Sodium/potassium transporting ATPase interacting 2. 9606.ENSP00000357409,DCST2,773,DC-STAMP domain containing 2. 9606.ENSP00000357425,SMPDL3A,453,"Acid sphingomyelinase-like phosphodiesterase 3a; Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP. Has in vitro activity with p-nitrophenyl-TMP. Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates. Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine. Does not have sphingomyelin phosphodiesterase activity. Belongs to the acid sphingomyelinase family." 9606.ENSP00000357440,HSF2,536,"Heat shock factor protein 2; DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked." 9606.ENSP00000357442,PYGO2,406,Pygopus homolog 2; Involved in signal transduction through the Wnt pathway. 9606.ENSP00000357448,PBXIP1,731,Pre-B-cell leukemia transcription factor-interacting protein 1; Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor- alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling. 9606.ENSP00000357452,PMVK,192,Phosphomevalonate kinase. 9606.ENSP00000357453,MAN1A1,653,"Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA; Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2); Belongs to the glycosyl hydrolase 47 family." 9606.ENSP00000357459,ADAR,1226,Double-stranded RNA-specific adenosine deaminase; Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structur [...] 9606.ENSP00000357461,CHRNB2,502,"Neuronal acetylcholine receptor subunit beta-2; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions." 9606.ENSP00000357465,TDRD10,366,Tudor domain containing 10. 9606.ENSP00000357470,IL6R,468,"Interleukin-6 receptor subunit alpha; Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis." 9606.ENSP00000357474,CEP85L,808,Centrosomal protein 85 like; Belongs to the CEP85 family. 9606.ENSP00000357480,NUS1,293,"Dehydrodolichyl diphosphate synthase complex subunit NUS1; With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stabilit [...] " 9606.ENSP00000357484,GOPC,462,Golgi-associated PDZ and coiled-coil motif-containing protein; Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes. 9606.ENSP00000357494,ROS1,2347,"Proto-oncogene tyrosine-protein kinase ROS; Orphan receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including the PI3 kinase-mTOR signaling pathway. Mediates the phosphorylation of PTPN11, an activator of this pathway. May also phosphorylate and activate the transcription factor STAT3 to control anchorage-independent cell growth. Mediates the phosphorylation and the activation [...] " 9606.ENSP00000357507,C1orf43,253,Uncharacterized protein C1orf43; Chromosome 1 open reading frame 43. 9606.ENSP00000357511,C1orf189,101,Uncharacterized protein C1orf189; Chromosome 1 open reading frame 189. 9606.ENSP00000357535,ECHS1,290,"Enoyl-CoA hydratase, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate; Belongs to the enoyl-CoA hydratase/isomerase family." 9606.ENSP00000357542,ZNF511-PRAP1,318,ZNF511-PRAP1 readthrough. 9606.ENSP00000357545,FAM162B,162,Protein FAM162B; Family with sequence similarity 162 member B. 9606.ENSP00000357547,NUP210L,1888,Nuclear pore membrane glycoprotein 210-like; Nucleoporin 210 like; Belongs to the NUP210 family. 9606.ENSP00000357552,KPNA5,539,"Importin subunit alpha-6; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are [...] " 9606.ENSP00000357556,VENTX,258,Homeobox protein VENTX; May be involved in ventralization. 9606.ENSP00000357564,RAB13,203,"Ras-related protein Rab-13; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regu [...] " 9606.ENSP00000357565,ZUP1,578,"Zinc finger-containing ubiquitin peptidase 1; Deubiquitinase with endodeubiquitinase activity that specifically interacts with and cleaves 'Lys-63'-linked long polyubiquitin chains. Shows only weak activity against 'Lys-11' and 'Lys-48'-linked chains. Plays an important role in genome stability pathways, functioning to prevent spontaneous DNA damage and also promote cellular survival in response to exogenous DNA damage. Modulates the ubiquitination status of replication protein A (RPA) complex proteins in response to replication stress." 9606.ENSP00000357575,CFAP46,2715,Cilia- and flagella-associated protein 46; As part of the central apparatus of the cilium axoneme plays a role in cilium movement. 9606.ENSP00000357581,NKX6-2,277,"Homeobox protein Nkx-6.2; Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'-(A/T)TTAATGA- 3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions." 9606.ENSP00000357583,INPP5A,412,"Inositol polyphosphate-5-phosphatase A; Phosphatase that specifically hydrolyzes the 5-phosphate of inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, and inositol 1,3,4,5-tetrasphosphate to inositol 1,3,4-trisphosphate." 9606.ENSP00000357588,CALHM5,309,Calcium homeostasis modulator protein 5; Pore-forming subunit of a voltage-gated ion channel. Belongs to the CALHM family. 9606.ENSP00000357591,TRAPPC3L,181,Trafficking protein particle complex subunit 3-like protein; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. BET3 subfamily. 9606.ENSP00000357594,CALHM6,315,Calcium homeostasis modulator protein 6; Pore-forming subunit of a voltage-gated ion channel. 9606.ENSP00000357597,TSPYL1,437,Testis-specific Y-encoded-like protein 1; TSPY like 1. 9606.ENSP00000357603,LRRC27,530,Leucine-rich repeat-containing protein 27; Leucine rich repeat containing 27. 9606.ENSP00000357612,SLC39A1,324,Zinc transporter ZIP1; Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells. 9606.ENSP00000357622,CRTC2,693,"CREB-regulated transcription coactivator 2; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. Regulates the expression of specific genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mit [...] " 9606.ENSP00000357625,BNIP3,259,"BCL2/adenovirus E1B 19 kDa protein-interacting protein 3; Apoptosis-inducing protein that can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer [...] " 9606.ENSP00000357631,TCERG1L,586,Transcription elongation regulator 1 like. 9606.ENSP00000357633,GLRX3,335,"Glutaredoxin-3; Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins. Acts as a critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). Required for hemoglobin maturation. Does not possess any thyoredoxin activity since it lacks the conserved motif that is essential for catalytic activity." 9606.ENSP00000357637,EBF3,551,Transcription factor COE3; Transcriptional activator. Recognizes variations of the palindromic sequence 5'- ATTCCCNNGGGAATT-3' (By similarity). Belongs to the COE family. 9606.ENSP00000357643,MKI67,3256,"Proliferation marker protein Ki-67; Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly. Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the chromosome surface. Prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility. Binds DNA, with a preference for s [...] " 9606.ENSP00000357644,GATAD2B,593,Transcriptional repressor p66-beta; Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development. 9606.ENSP00000357645,FAM229B,80,Protein FAM229B; Family with sequence similarity 229 member B; Belongs to the FAM229 family. 9606.ENSP00000357651,TUBE1,475,Tubulin epsilon 1; Belongs to the tubulin family. 9606.ENSP00000357655,CCN6,372,Cellular communication network factor 6; Plays a role in mitochondrial electron transport and mitochondrial respiration. Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis. 9606.ENSP00000357660,CLRN3,226,Clarin-3; Clarin 3; Belongs to the clarin family. 9606.ENSP00000357668,ADAM12,909,"Disintegrin and metalloproteinase domain-containing protein 12; Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity)." 9606.ENSP00000357669,NPR1,1061,Atrial natriuretic peptide receptor 1; Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis. Has guanylate cyclase activity upon binding of the ligand. 9606.ENSP00000357674,SNAPIN,136,"SNARE-associated protein Snapin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate [...] " 9606.ENSP00000357679,CHTOP,249,"Chromatin target of PRMT1 protein; Plays an important role in the ligand-dependent activation of estrogen receptor target genes. May play a role in the silencing of fetal globin genes. Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5-hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP- methylosome complex associated with 5hmC is recruited to sel [...] " 9606.ENSP00000357682,FANK1,345,"Fibronectin type 3 and ankyrin repeat domains protein 1; Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis." 9606.ENSP00000357691,S100A14,104,"Protein S100-A14; Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium." 9606.ENSP00000357695,S100A16,103,"Protein S100-A16; Calcium-binding protein. Binds one calcium ion per monomer. Can promote differentiation of adipocytes (in vitro) (By similarity). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake (By similarity); Belongs to the S-100 family." 9606.ENSP00000357702,S100A3,101,"Protein S100-A3; Binds both calcium and zinc. May be involved in calcium- dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation." 9606.ENSP00000357704,S100A4,101,S100 calcium binding protein A4. 9606.ENSP00000357707,S100A5,92,"Protein S100-A5; Binds calcium, zinc and copper. One subunit can simultaneously bind 2 calcium ions or 2 copper ions plus 1 zinc ion. Calcium and copper ions compete for the same binding sites." 9606.ENSP00000357709,S100A6,90,"Protein S100-A6; May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative." 9606.ENSP00000357711,S100A7,101,S100 calcium binding protein A7. 9606.ENSP00000357714,S100A7L2,101,S100 calcium binding protein A7 like 2. 9606.ENSP00000357718,S100A7A,101,Protein S100-A7A; May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases. 9606.ENSP00000357721,S100A8,93,"Protein S100-A8; S100A8 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis and adhesion. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH- oxidase. Activates NADPH-oxidase by facilitat [...] " 9606.ENSP00000357726,S100A12,92,"Protein S100-A12; S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its proinflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF- kappa-B signaling pathways leadi [...] " 9606.ENSP00000357727,S100A9,114,"Protein S100-A9; S100A9 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis, adhesion, can increase the bactericidal activity of neutrophils by promoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2 and can induce degranulation of neutrophils by a MAPK-dependent mechanism. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid [...] " 9606.ENSP00000357731,LOR,312,Loricrin; Major keratinocyte cell envelope protein. 9606.ENSP00000357733,PRR9,116,Proline-rich protein 9; Proline rich 9. 9606.ENSP00000357736,LELP1,98,Late cornified envelope like proline rich 1; Belongs to the cornifin (SPRR) family. 9606.ENSP00000357737,SPRR2G,73,"Small proline-rich protein 2G; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity)." 9606.ENSP00000357740,SPRR2E,72,"Small proline-rich protein 2E; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane." 9606.ENSP00000357744,SPRR2B,72,"Small proline-rich protein 2A; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane; Belongs to the cornifin (SPRR) family." 9606.ENSP00000357746,SPRR2D,72,"Small proline-rich protein 2D; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane." 9606.ENSP00000357748,BCCIP,322,"BRCA2 and CDKN1A-interacting protein; During interphase, required for microtubule organizing and anchoring activities. During mitosis, required for the organization and stabilization of the spindle pole. Isoform 2/alpha is particularly important for the regulation of microtubule anchoring, microtubule stability, spindle architecture and spindle orientation, compared to isoform 1/beta. May promote cell cycle arrest by enhancing the inhibition of CDK2 activity by CDKN1A. May be required for repair of DNA damage by homologous recombination in conjunction with BRCA2. May not be involved in [...] " 9606.ENSP00000357751,SPRR1A,89,"Cornifin-A; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane." 9606.ENSP00000357753,IVL,585,Involucrin; Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia; Belongs to the involucrin family. 9606.ENSP00000357754,SMCP,116,Sperm mitochondrial-associated cysteine-rich protein; Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By similarity). 9606.ENSP00000357759,LCE1E,118,Late cornified envelope protein 1E; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000357764,C1orf68,250,Skin-specific protein 32; Chromosome 1 open reading frame 68. 9606.ENSP00000357766,LCE4A,99,Late cornified envelope protein 4A; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family. 9606.ENSP00000357768,LCE2A,106,Late cornified envelope protein 2A; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000357769,LCE2B,110,Late cornified envelope protein 2B; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000357772,LCE2C,110,Late cornified envelope protein 2C; Precursors of the cornified envelope of the stratum. 9606.ENSP00000357773,LCE2D,110,Late cornified envelope protein 2D; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000357776,LCE3D,92,Late cornified envelope protein 3D; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family. 9606.ENSP00000357778,LCE3E,92,Late cornified envelope protein 3E; Precursors of the cornified envelope of the stratum corneum. 9606.ENSP00000357779,CRCT1,99,Cysteine rich C-terminal 1. 9606.ENSP00000357787,UROS,265,"Uroporphyrinogen-III synthase; Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme)." 9606.ENSP00000357789,FLG,4061,Filaggrin; Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. 9606.ENSP00000357791,HRNR,2850,Hornerin; Component of the epidermal cornified cell envelopes. Belongs to the S100-fused protein family. 9606.ENSP00000357796,TCHHL1,904,Trichohyalin-like protein 1; Trichohyalin like 1; Belongs to the S-100 family. 9606.ENSP00000357798,MMP21,569,Matrix metalloproteinase-21; Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway. Cleaves alpha-1-antitrypsin ; Belongs to the peptidase M10A family. 9606.ENSP00000357801,S100A10,97,"Protein S100-A10; Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine-specific kinase; Belongs to the S-100 family." 9606.ENSP00000357804,THEM4,240,"Acyl-coenzyme A thioesterase THEM4; Has acyl-CoA thioesterase activity towards medium and long- chain (C14 to C18) fatty acyl-CoA substrates, and probably plays a role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to inhibits AKT1 phosphorylation and activity. According to enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane." 9606.ENSP00000357807,THEM5,247,"Acyl-coenzyme A thioesterase THEM5; Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters. Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin. Required for normal mitochondrial function." 9606.ENSP00000357810,LINGO4,593,Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4; Leucine rich repeat and Ig domain containing 4. 9606.ENSP00000357811,TEX36,186,Testis-expressed protein 36; Testis expressed 36. 9606.ENSP00000357812,TDRKH,561,"Tudor and KH domain-containing protein; Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the final steps of primary piRNA biogenesis by participating in the processing of 31-37 nt intermediates into mature [...] " 9606.ENSP00000357823,MRPL9,267,Mitochondrial ribosomal protein L9. 9606.ENSP00000357829,EEF1AKMT2,291,EEF1A lysine methyltransferase 2; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-318'; Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM4 family. 9606.ENSP00000357835,LHPP,270,"Phospholysine phosphohistidine inorganic pyrophosphate phosphatase; Phosphatase that hydrolyzes imidodiphosphate, 3- phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity); Belongs to the HAD-like hydrolase superfamily." 9606.ENSP00000357838,OAT,439,"Ornithine aminotransferase, mitochondrial; Ornithine aminotransferase." 9606.ENSP00000357842,TUFT1,390,Tuftelin; Involved in the mineralization and structural organization of enamel; Belongs to the tuftelin family. 9606.ENSP00000357844,SLC16A10,515,Monocarboxylate transporter 10; Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity). Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. 9606.ENSP00000357858,BUB3,328,Mitotic checkpoint protein BUB3; Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (APC/C) when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. T [...] 9606.ENSP00000357863,GTF3C6,213,"General transcription factor 3C polypeptide 6; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters." 9606.ENSP00000357869,PI4KB,828,"Phosphatidylinositol 4-kinase beta; Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity)." 9606.ENSP00000357873,ACADSB,432,"Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial; Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2- methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent." 9606.ENSP00000357876,PSMD4,380,"26S proteasome non-ATPase regulatory subunit 4; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin- [...] " 9606.ENSP00000357881,IKZF5,419,Zinc finger protein Pegasus; DNA-binding protein that binds to the 5'GNNTGTNG-3' core sequence. Transcriptional repressor; Belongs to the Ikaros C2H2-type zinc-finger protein family. 9606.ENSP00000357883,PIP5K1A,562,"Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha; Catalyzes the phosphorylation of phosphatidylinositol 4- phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5- trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4- phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organ [...] " 9606.ENSP00000357889,FAM24A,105,Protein FAM24A; Family with sequence similarity 24 member A. 9606.ENSP00000357894,FAM24B,94,Protein FAM24B; Family with sequence similarity 24 member B. 9606.ENSP00000357901,SCNM1,230,"Sodium channel modifier 1; Plays a role in alternative splicing of pre-mRNAs, possibly by contributing to the selection of non-consensus donor sites." 9606.ENSP00000357904,LYSMD1,227,LysM and putative peptidoglycan-binding domain-containing protein 1; LysM domain containing 1. 9606.ENSP00000357905,DMBT1,2413,"Deleted in malignant brain tumors 1 protein; May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lin [...] " 9606.ENSP00000357906,TNFAIP8L2,184,Tumor necrosis factor alpha-induced protein 8-like protein 2; Acts as a negative regulator of innate and adaptive immunity by maintaining immune homeostasis. Negative regulator of Toll-like receptor and T-cell receptor function. Prevents hyperresponsiveness of the immune system and maintains immune homeostasis. Inhibits JUN/AP1 and NF-kappa-B activation. Promotes Fas-induced apoptosis (By similarity); Belongs to the TNFAIP8 family. TNFAIP8L2 subfamily. 9606.ENSP00000357907,CDK19,502,Cyclin dependent kinase 19. 9606.ENSP00000357909,SEMA6C,962,"Semaphorin-6C; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. Belongs to the semaphorin family." 9606.ENSP00000357914,GABPB2,448,GA-binding protein subunit beta-2; May function as transcription factor capable of interacting with purine rich repeats (GA repeats). 9606.ENSP00000357915,SLC22A16,577,Solute carrier family 22 member 16; High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000357917,MLLT11,90,Protein AF1q; Cofactor for the transcription factor TCF7. Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate. 9606.ENSP00000357920,DDO,369,"D-aspartate oxidase; Selectively catalyzes the oxidative deamination of D- aspartate and its N-methylated derivative, N-methyl D-aspartate." 9606.ENSP00000357922,C1orf56,341,Protein MENT; Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B. 9606.ENSP00000357927,BNIPL,357,Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein; May be a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. 9606.ENSP00000357928,CDC40,579,Pre-mRNA-processing factor 17; Required for pre-mRNA splicing as component of the activated spliceosome. 9606.ENSP00000357943,ANXA9,345,Annexin A9; Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes. Belongs to the annexin family. 9606.ENSP00000357966,CEP57L1,477,Centrosomal protein CEP57L1; Centrosomal protein which may be required for microtubule attachment to centrosomes; Belongs to the translokin family. 9606.ENSP00000357973,AFG1L,481,"AFG1-like ATPase; Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain. Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress." 9606.ENSP00000357979,NR2E1,422,"Nuclear receptor subfamily 2 group E member 1; Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved [...] " 9606.ENSP00000357980,HTRA1,480,"Serine protease HTRA1; Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF- binding proteins. Inhibits sign [...] " 9606.ENSP00000357981,CTSS,331,Cathepsin S; Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules. The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L. 9606.ENSP00000357986,PLEKHA1,404,"Pleckstrin homology domain-containing family A member 1; Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane." 9606.ENSP00000357998,SEC63,760,"Translocation protein SEC63 homolog; Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen. Required for efficient PKD1/Polycystin- 1 biogenesis and trafficking to the plasma membrane of the primary [...] " 9606.ENSP00000358001,TACC2,2948,Transforming acidic coiled-coil-containing protein 2; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker. 9606.ENSP00000358016,SCML4,414,"Sex comb on midleg-like protein 4; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity)." 9606.ENSP00000358019,NSMCE4A,385,"Non-structural maintenance of chromosomes element 4 homolog A; Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (A [...] " 9606.ENSP00000358022,MCL1,350,"Induced myeloid leukemia cell differentiation protein Mcl-1; Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis. Belongs to the Bcl-2 family." 9606.ENSP00000358033,PDSS2,399,"Decaprenyl-diphosphate synthase subunit 2; Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10." 9606.ENSP00000358035,ADAMTSL4,1097,ADAMTS-like protein 4; Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis. 9606.ENSP00000358042,QRSL1,528,"Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln)." 9606.ENSP00000358045,ECM1,567,Extracellular matrix protein 1; Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. 9606.ENSP00000358059,RTN4IP1,396,"Reticulon-4-interacting protein 1, mitochondrial; Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury." 9606.ENSP00000358060,TARS2,718,"Threonine--tRNA ligase, mitochondrial; Catalyzes the attachment of threonine to tRNA(Thr) in a two- step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain." 9606.ENSP00000358062,CRYBG1,1723,Beta/gamma crystallin domain-containing protein 1; May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000358064,RPRD2,1461,Regulation of nuclear pre-mRNA domain containing 2. 9606.ENSP00000358071,SEC23IP,1000,"SEC23-interacting protein; Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P). Belongs to the PA-PLA1 family." 9606.ENSP00000358072,ATG5,275,"Autophagy protein 5; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3- like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is ess [...] " 9606.ENSP00000358081,BAG3,575,BAG family molecular chaperone regulator 3; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70. Has anti- apoptotic activity. Plays a role in the HSF1 nucleocytoplasmic transport. 9606.ENSP00000358089,TIAL1,392,Nucleolysin TIAR; RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis. 9606.ENSP00000358092,PRDM1,825,"PR domain zinc finger protein 1; Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue- resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, [...] " 9606.ENSP00000358098,C1orf54,131,Uncharacterized protein C1orf54; Chromosome 1 open reading frame 54. 9606.ENSP00000358099,RGS10,181,"Regulator of G-protein signaling 10; Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Modulates the activity of potassium channels that are activated in response to CHRM2 signaling. Activity on GNAZ is inhibited by palmitoylation of the G-protein." 9606.ENSP00000358105,APH1A,265,"Gamma-secretase subunit APH-1A; Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). Required for normal gamma-secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). Belongs to the APH-1 family." 9606.ENSP00000358107,CA14,337,Carbonic anhydrase 14; Reversible hydration of carbon dioxide. 9606.ENSP00000358120,PLEKHO1,409,"Pleckstrin homology domain-containing family O member 1; Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT-mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that translocat [...] " 9606.ENSP00000358140,EIF3A,1382,"Eukaryotic translation initiation factor 3 subunit A; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...] " 9606.ENSP00000358142,SV2A,742,"Synaptic vesicle glycoprotein 2A; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity)." 9606.ENSP00000358147,CACUL1,369,CDK2-associated and cullin domain-containing protein 1; Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition. 9606.ENSP00000358149,BOLA1,137,BolA-like protein 1; Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins (By similarity). Probably acts together with the monothiol glutaredoxin GLRX5. May protect cells against oxidative stress. 9606.ENSP00000358151,H2BC21,126,"Histone H2B type 2-E; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000358154,H3C14,136,H3 clustered histone 14. 9606.ENSP00000358155,H2AC18,130,"Histone H2A type 2-A; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000358159,ASCC3,2202,"Activating signal cointegrator 1 complex subunit 3; 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation." 9606.ENSP00000358160,H3C10,136,H3 clustered histone 10. 9606.ENSP00000358165,FCGR1A,374,High affinity immunoglobulin gamma Fc receptor I; High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses. 9606.ENSP00000358183,FAM204A,233,Protein FAM204A; Family with sequence similarity 204 member A. 9606.ENSP00000358200,RAB11FIP2,532,"Rab11 family-interacting protein 2; A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator [...] " 9606.ENSP00000358207,VAX1,334,"Ventral anterior homeobox 1; Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity); Belongs to the EMX homeobox family." 9606.ENSP00000358210,SIM1,766,Single-minded homolog 1; Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. 9606.ENSP00000358217,PRDM13,707,PR domain zinc finger protein 13; May be involved in transcriptional regulation; Belongs to the class V-like SAM-binding methyltransferase superfamily. 9606.ENSP00000358223,PNLIP,465,Pancreatic lipase; Belongs to the AB hydrolase superfamily. Lipase family. 9606.ENSP00000358232,PNLIPRP3,467,Pancreatic lipase related protein 3. 9606.ENSP00000358233,GPR89B,455,G protein-coupled receptor 89B. 9606.ENSP00000358238,GJA8,433,"Gap junction alpha-8 protein; Structural component of eye lens gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore." 9606.ENSP00000358247,FBXL4,621,F-box and leucine rich repeat protein 4. 9606.ENSP00000358251,FAM160B1,765,Protein FAM160B1; Family with sequence similarity 160 member B1. 9606.ENSP00000358262,CHD1L,897,Chromodomain-helicase-DNA-binding protein 1-like; DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP- dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding; Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000358265,KLHL32,620,Kelch-like protein 32; Kelch like family member 32. 9606.ENSP00000358272,NDUFAF4,175,NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion. 9606.ENSP00000358283,UFL1,794,"E3 UFM1-protein ligase 1; E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling. May also play a role in nuclear receptor-mediated transcription through TRIP4 ufmylation. May play a role in the unfolded protein response, mediating the ufmylation of multip [...] " 9606.ENSP00000358294,CD160,181,"CD160 antigen, soluble form; [CD160 antigen]: Receptor on immune cells capable to deliver stimulatory or inhibitory signals that regulate cell activation and differentiation. Exists as a GPI-anchored and as a transmembrane form, each likely initiating distinct signaling pathways via phosphoinositol 3-kinase in activated NK cells and via LCK and CD247/CD3 zeta chain in activated T cells. Receptor for both classical and non-classical MHC class I molecules. In the context of acute viral infection, recognizes HLA-C and triggers NK cell cytotoxic activity, likely playing a role in anti-vira [...] " 9606.ENSP00000358301,ADRB1,477,Beta-1 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity. Mediates Ras activation through G(s)-alpha- and cAMP-mediated signaling. Involved in the regulation of sleep/wake behaviors ; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB1 sub-subfamily. 9606.ENSP00000358307,NHLRC2,726,NHL repeat-containing protein 2; Required for normal embryonic development. 9606.ENSP00000358309,EPHA7,998,"Ephrin type-A receptor 7; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repel [...] " 9606.ENSP00000358310,ITGA10,1167,Integrin alpha-10; Integrin alpha-10/beta-1 is a receptor for collagen; Belongs to the integrin alpha chain family. 9606.ENSP00000358312,PEX11B,259,Peroxisomal membrane protein 11B; Involved in peroxisomal proliferation. May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane. Promotes membrane protrusion and elongation on the peroxisomal surface. Belongs to the peroxin-11 family. 9606.ENSP00000358316,PLEKHS1,465,Pleckstrin homology domain containing S1. 9606.ENSP00000358320,POLR3GL,218,"DNA-directed RNA polymerase III subunit RPC7-like; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs; Belongs to the eukaryotic RPC7 RNA polymerase subunit family." 9606.ENSP00000358327,CASP7,388,Caspase-7 subunit p11; Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP- ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Overexpression promotes programmed cell death. 9606.ENSP00000358335,MAP3K7,606,"Mitogen-activated protein kinase kinase kinase 7; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as a [...] " 9606.ENSP00000358358,GJA10,543,"Gap junction alpha-10 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity). Belongs to the connexin family. Alpha-type (group II) subfamily." 9606.ENSP00000358363,PDE4DIP,2362,Myomegalin; Functions as an anchor sequestering components of the cAMP- dependent pathway to Golgi and/or centrosomes (By similarity). 9606.ENSP00000358365,NRAP,1731,Nebulin-related-anchoring protein; May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix. 9606.ENSP00000358374,SCAF11,1463,Protein SCAF11; Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly. 9606.ENSP00000358391,FCGR1B,280,High affinity immunoglobulin gamma Fc receptor IB; May bind to the Fc region of immunoglobulins gamma with a low affinity compared to FCGR1A. May function in the humoral immune response. 9606.ENSP00000358397,FAM72B,149,Protein FAM72B; Family with sequence similarity 72 member B; Belongs to the FAM72 family. 9606.ENSP00000358400,MDN1,5596,"Midasin; Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits. Functions at successive maturation steps to remove ribosomal factors at critical transition points, first driving the exit of early pre-60S particles from the nucleolus and then driving late pre-60S particles from the nucleus (By similarity). At an early stage in 60S maturation, mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from early pre-60S particles, rendering them competent for export from the nucleolus to the nucleoplasm (By similarity). Subsequently recruited to [...] " 9606.ENSP00000358407,ADAM30,790,Disintegrin and metalloproteinase domain-containing protein 30; Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation. 9606.ENSP00000358413,ZDHHC6,413,"Palmitoyltransferase ZDHHC6; Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC. Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins. Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum. Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function. Belongs to the DHHC palmitoyltransferase family." 9606.ENSP00000358414,HMGCS2,508,"Hydroxymethylglutaryl-CoA synthase, mitochondrial; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase." 9606.ENSP00000358421,HSD3B1,373,"3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; A bifunctional enzyme responsible for the oxidation and isomerization of 3beta-hydroxy-Delta(5)-steroid precursors to 3-oxo- Delta(4)-steroids, an essential step in steroid hormone biosynthesis. Specifically catalyzes the conversion of pregnenolone to progesterone, 17alpha-hydroxypregnenolone to 17alpha-hydroxyprogesterone, dehydroepiandrosterone (DHEA) to 4-androstenedione, and androstenediol to testosterone. Additionally, catalyzes the interconversion between 3beta-hydroxy and 3-oxo-5alpha-androstane steroids controlli [...] " 9606.ENSP00000358423,RRAGD,400,Ras-related GTP-binding protein D; Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids. 9606.ENSP00000358437,TBX15,602,"T-box transcription factor TBX15; Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity)." 9606.ENSP00000358451,GDAP2,497,Ganglioside induced differentiation associated protein 2. 9606.ENSP00000358458,TENT5C,391,Terminal nucleotidyltransferase 5C; Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase which enhances mRNA stability and gene expression. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein and may be involved in induction of cell death. 9606.ENSP00000358460,CLIC2,247,Chloride intracellular channel protein 2; Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx. 9606.ENSP00000358464,SHOC2,582,"Leucine-rich repeat protein SHOC-2; Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes." 9606.ENSP00000358466,RAB39B,213,"Ras-related protein Rab-39B; Small GTPases Rab involved in autophagy. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic retic [...] " 9606.ENSP00000358470,VTCN1,282,"V-set domain-containing T-cell activation inhibitor 1; Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T- cells (Treg), in the suppression of tumor-associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation." 9606.ENSP00000358474,BRCC3,316,"Lys-63-specific deubiquitinase BRCC36; Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not have activity toward 'Lys- 48'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double [...] " 9606.ENSP00000358478,TTF2,1162,Transcription termination factor 2; DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing. 9606.ENSP00000358482,CD101,1021,Immunoglobulin superfamily member 2; Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3-induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T- cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marke [...] 9606.ENSP00000358488,MTCP1,107,Protein p13 MTCP-1; Enhances the phosphorylation and activation of AKT1 and AKT2. Belongs to the TCL1 family. 9606.ENSP00000358490,CD2,351,"T-cell surface antigen CD2; CD2 interacts with lymphocyte function-associated antigen CD58 (LFA-3) and CD48/BCM1 to mediate adhesion between T-cells and other cell types. CD2 is implicated in the triggering of T-cells, the cytoplasmic domain is implicated in the signaling function." 9606.ENSP00000358495,IGSF3,1214,Immunoglobulin superfamily member 3. 9606.ENSP00000358496,CMC4,68,Cx9C motif-containing protein 4; C-X9-C motif containing 4; Belongs to the CMC4 family. 9606.ENSP00000358497,RNGTT,597,"Polynucleotide 5'-triphosphatase; Bifunctional mRNA-capping enzyme exhibiting RNA 5'- triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5'-diphosphate terminus." 9606.ENSP00000358501,CD58,250,"Lymphocyte function-associated antigen 3; Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen-presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells." 9606.ENSP00000358510,FUNDC2,189,FUN14 domain containing 2; Belongs to the FUN14 family. 9606.ENSP00000358512,MAB21L3,362,Protein mab-21-like 3; Mab-21 like 3. 9606.ENSP00000358513,CNR1,472,"Cannabinoid receptor 1; G-protein coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP. In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agon [...] " 9606.ENSP00000358515,SLC22A15,547,Solute carrier family 22 member 15; Probably transports organic cations (By similarity). Appears not to be the agmatine transporter. 9606.ENSP00000358518,F8A2,371,"40-kDa huntingtin-associated protein; RAB5A effector molecule that is involved in vesicular trafficking of early endosomes. Mediates the recruitment of HTT by RAB5A onto early endosomes. The HTT- F8A1/F8A2/F8A3-RAB5A complex stimulates early endosomal interaction with actin filaments and inhibits interaction with microtubules, leading to the reduction of endosome motility." 9606.ENSP00000358519,NHLH2,135,"Helix-loop-helix protein 2; May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system." 9606.ENSP00000358525,NGF,241,"Beta-nerve growth factor; Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (Probable). The immature NGF precursor (proNGF) functions as ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone collapse. [...] " 9606.ENSP00000358529,TSPAN2,221,Tetraspanin-2; May play a role in signalling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000358532,RBM20,1227,RNA-binding protein 20; RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin). 9606.ENSP00000358535,SYCP1,976,"Synaptonemal complex protein 1; Major component of the transverse filaments of synaptonemal complexes, formed between homologous chromosomes during meiotic prophase. Required for normal assembly of the central element of the synaptonemal complexes. Required for normal centromere pairing during meiosis. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility." 9606.ENSP00000358541,SIKE1,211,"Suppressor of IKBKE 1; Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3- mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways; Belongs to the SIKE family." 9606.ENSP00000358542,SMIM9,99,Small integral membrane protein 9. 9606.ENSP00000358547,MPP1,466,55 kDa erythrocyte membrane protein; Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity). 9606.ENSP00000358548,NRAS,189,GTPase NRas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. 9606.ENSP00000358549,RARS2,578,"Probable arginine--tRNA ligase, mitochondrial; arginyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000358554,BCAS2,225,Pre-mRNA-splicing factor SPF27; Required for pre-mRNA splicing as component of the activated spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR). 9606.ENSP00000358563,DKC1,514,"H/ACA ribonucleoprotein complex subunit DKC1; [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telom [...] " 9606.ENSP00000358565,SLC35A1,337,"CMP-sialic acid transporter; Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function. Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity)." 9606.ENSP00000358575,CFAP206,622,Cilia- and flagella-associated protein 206; May regulate cilium motility through its role in the assembly of the axonemal radial spokes. 9606.ENSP00000358582,AP4B1,739,AP-4 complex subunit beta-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asy [...] 9606.ENSP00000358590,ZNF292,2723,Zinc finger protein 292; May be involved in transcriptional regulation. 9606.ENSP00000358596,DUSP5,384,"Dual specificity protein phosphatase 5; Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000358616,SMNDC1,238,Survival of motor neuron-related-splicing factor 30; Necessary for spliceosome assembly. Overexpression causes apoptosis; Belongs to the SMN family. 9606.ENSP00000358617,PHTF1,762,Putative homeodomain transcription factor 1; May play a role in transcription regulation. 9606.ENSP00000358635,SYNCRIP,623,"Heterogeneous nuclear ribonucleoprotein Q; Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes. Isoform 1 binds to apoB mRNA AU-rich sequences. Isoform 1 is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 [...] " 9606.ENSP00000358644,TAFA3,169,Chemokine-like protein TAFA-3; Plays a role in the regulation of microglia polarization. Belongs to the TAFA family. 9606.ENSP00000358674,UBL4A,157,"Ubiquitin-like protein 4A; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches- containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthe [...] " 9606.ENSP00000358677,TBX18,607,"T-box transcription factor TBX18; Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area." 9606.ENSP00000358695,CYB5R4,521,"Cytochrome b5 reductase 4; NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin." 9606.ENSP00000358696,PLXNA3,1871,"Plexin-A3; Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for s [...] " 9606.ENSP00000358698,WNT2B,391,Protein Wnt-2b; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development. 9606.ENSP00000358703,RIPPLY2,128,Protein ripply2; Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity). 9606.ENSP00000358714,PRSS35,413,Serine protease 35; Belongs to the peptidase S1 family. 9606.ENSP00000358715,SORCS3,1222,Sortilin related VPS10 domain containing receptor 3; Belongs to the VPS10-related sortilin family. SORCS subfamily. 9606.ENSP00000358716,DDX20,824,"Probable ATP-dependent RNA helicase DDX20; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm compl [...] " 9606.ENSP00000358718,CFAP58,872,Cilia and flagella associated protein 58; Belongs to the CFAP58 family. 9606.ENSP00000358719,ME1,572,Malic enzyme 1. 9606.ENSP00000358723,RAP1A,184,"Ras-related protein Rap-1A; Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)- induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial gro [...] " 9606.ENSP00000358727,GSTO1,241,Glutathione S-transferase omega-1; Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Has also glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid. 9606.ENSP00000358730,TMIGD3,347,Transmembrane domain-containing protein TMIGD3; [Isoform 1]: Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity. 9606.ENSP00000358737,ATP5PB,256,"ATP synthase F(0) complex subunit B1, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechani [...] " 9606.ENSP00000358739,RWDD2A,292,RWD domain containing 2A. 9606.ENSP00000358742,SFR1,245,"Swi5-dependent recombination DNA repair protein 1 homolog; Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination. Acts as a transcriptional modulator for ESR1 ; Belongs to the SFR1/MEI5 family." 9606.ENSP00000358747,OVGP1,678,Oviduct-specific glycoprotein; Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development. 9606.ENSP00000358753,PIFO,191,"Protein pitchfork; During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle- dependent manner." 9606.ENSP00000358755,CHIA,476,"Acidic mammalian chitinase; Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on [...] " 9606.ENSP00000358762,UBE3D,389,"E3 ubiquitin-protein ligase E3D; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome." 9606.ENSP00000358765,TPBG,420,Trophoblast glycoprotein; May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a-dependent LRP6 internalization. 9606.ENSP00000358770,SLK,1235,STE20-like serine/threonine-protein kinase; Mediates apoptosis and actin stress fiber dissolution. 9606.ENSP00000358777,ATP6AP1,470,"V-type proton ATPase subunit S1; Accessory subunit of the proton-transporting vacuolar (V)- ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering th [...] " 9606.ENSP00000358778,LRIF1,769,"Ligand-dependent nuclear receptor-interacting factor 1; Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin. Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases." 9606.ENSP00000358783,NPBWR2,333,"Neuropeptides B/W receptor type 2; Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000358784,KCNA3,575,"Potassium voltage-gated channel subfamily A member 3; Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient." 9606.ENSP00000358786,KCNA10,511,"Potassium voltage-gated channel subfamily A member 10; Mediates voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. The channel activity is up-regulated by cAMP; Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.8/KCNA10 sub-subfamily." 9606.ENSP00000358794,SLC16A4,487,"Monocarboxylate transporter 5; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity)." 9606.ENSP00000358795,NEURL1,574,"E3 ubiquitin-protein ligase NEURL1; Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element-binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; i [...] " 9606.ENSP00000358798,CALHM3,344,"Calcium homeostasis modulator protein 3; Pore-forming subunit of a voltage-gated ion channel, also permeable to larger molecules including ATP. Together with CALHM1, forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells (TBCs). CALHM1-CALHM3-mediated ATP released acts as a neurotransmitter to gustatory neurons in response to GPCR-mediated tastes, including sweet, bitter and umami substances." 9606.ENSP00000358799,RBM15,977,"RNA-binding protein 15; RNA-binding protein that acts as a key regulator of N6- methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA. Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (By similarity). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM [...] " 9606.ENSP00000358802,KCNC4,635,"Potassium voltage-gated channel subfamily C member 4; This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient." 9606.ENSP00000358810,STRIP1,837,Striatin-interacting protein 1; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. 9606.ENSP00000358812,PDCD11,1871,"Protein RRP5 homolog; Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA." 9606.ENSP00000358813,TTK,857,"Dual specificity protein kinase TTK; Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint." 9606.ENSP00000358814,AHCYL1,530,"S-adenosylhomocysteine hydrolase-like protein 1; Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITP [...] " 9606.ENSP00000358815,NEURL1B,555,E3 ubiquitin-protein ligase NEURL1B; E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands. 9606.ENSP00000358820,EPS8L3,594,Epidermal growth factor receptor kinase substrate 8-like protein 3; EPS8 like 3. 9606.ENSP00000358824,DNASE1L1,302,Deoxyribonuclease 1 like 1; Belongs to the DNase I family. 9606.ENSP00000358831,ELOVL4,314,Elongation of very long chain fatty acids protein 4; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical r [...] 9606.ENSP00000358840,ATP5MD,58,"ATP synthase membrane subunit DAPIT, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism [...] " 9606.ENSP00000358851,GSTM4,218,"Glutathione S-transferase Mu 4; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Active on 1-chloro- 2,4-dinitrobenzene." 9606.ENSP00000358853,SH3BGRL2,107,SH3 domain binding glutamate rich protein like 2; Belongs to the SH3BGR family. 9606.ENSP00000358854,TAF5,800,"Transcription initiation factor TFIID subunit 5; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. TAF5/TAFII100 interacts strongly with the histone H4-related TAF6/TAFII80 and the histone H3-related TAF9/TAFII31, as well as a stable complex comprised of both TAF5/TAFII80 and TAF6/TAFII31. Apparently weaker interactions of TAF5/TAFII100 with TBP, TAF1/TAFII250, TAF11/TAFII28, and TAF12/TAFII20, but not TAF7/TA [...] " 9606.ENSP00000358857,EMD,254,Emerin; Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta- catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1- dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. Th [...] 9606.ENSP00000358862,PCGF6,350,"Polycomb group RING finger protein 6; Transcriptional repressor. May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 [...] " 9606.ENSP00000358865,INA,499,Alpha-internexin; Class-IV neuronal intermediate filament that is able to self- assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges. 9606.ENSP00000358866,FLNA,2647,"Filamin-A; Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNB may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the de [...] " 9606.ENSP00000358867,GNAI3,354,"Guanine nucleotide-binding protein G(i) subunit alpha; Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modul [...] " 9606.ENSP00000358880,AMIGO1,493,Amphoterin-induced protein 1; Promotes growth and fasciculation of neurites from cultured hippocampal neurons. May be involved in fasciculation as well as myelination of developing neural axons. May have a role in regeneration as well as neural plasticity in the adult nervous system. May mediate homophilic as well as heterophilic cell-cell interaction and contribute to signal transduction through its intracellular domain. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Belongs to the immunoglobulin superfamil [...] 9606.ENSP00000358884,CYB561D1,251,Cytochrome b561 family member D1. 9606.ENSP00000358886,ATXN7L2,722,Ataxin-7-like protein 2; Ataxin 7 like 2. 9606.ENSP00000358888,SYPL2,272,Synaptophysin-like protein 2; Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes. 9606.ENSP00000358894,CNNM2,875,Metal transporter CNNM2; Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity). 9606.ENSP00000358896,AS3MT,375,"Arsenite methyltransferase; Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals. It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2. Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH." 9606.ENSP00000358902,SAMD10,202,Sterile alpha motif domain containing 10. 9606.ENSP00000358903,CYP17A1,508,"Steroid 17-alpha-hydroxylase/17,20 lyase; A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis. Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (Probable). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C1 [...] " 9606.ENSP00000358904,ZNF512B,892,Zinc finger protein 512B; May be involved in transcriptional regulation. 9606.ENSP00000358909,SFXN2,322,Sideroflexin-2; Mitochondrial amino-acid transporter that mediates transport of serine into mitochondria. 9606.ENSP00000358918,SUFU,484,"Suppressor of fused homolog; Negative regulator in the hedgehog/smoothened signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Down-regulates GLI2-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of eit [...] " 9606.ENSP00000358921,ACTR1A,376,Alpha-centractin; Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome. 9606.ENSP00000358925,PSRC1,333,"Proline/serine-rich coiled-coil protein 1; Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression; Belongs to the PSRC1 family." 9606.ENSP00000358931,TKTL1,596,"Transketolase-like protein 1; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate; Belongs to the transketolase family." 9606.ENSP00000358932,ABHD16B,469,Protein ABHD16B; Abhydrolase domain containing 16B; Belongs to the AB hydrolase superfamily. ABHD16 family. 9606.ENSP00000358939,SARS1,536,"Serine--tRNA ligase, cytoplasmic; Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC. Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16). [...] " 9606.ENSP00000358945,OPN1MW2,364,"Medium-wave-sensitive opsin 2; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily." 9606.ENSP00000358953,CUEDC2,287,"CUE domain-containing protein 2; Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism." 9606.ENSP00000358955,KIAA1324,1013,UPF0577 protein KIAA1324; May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway. 9606.ENSP00000358956,IRAK1BP1,260,Interleukin-1 receptor-associated kinase 1-binding protein 1; Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity). Belongs to the IRAK1BP1 family. 9606.ENSP00000358963,HTR1B,390,"5-hydroxytryptamine receptor 1B; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Arrestin family members inhibit signaling via G proteins and medi [...] " 9606.ENSP00000358965,C1orf194,157,Protein C1orf194; May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis. 9606.ENSP00000358966,IMPG1,797,Interphotoreceptor matrix proteoglycan 1; May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix. 9606.ENSP00000358967,OPN1LW,364,"Long-wave-sensitive opsin 1; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal." 9606.ENSP00000358983,NFKB2,900,"Nuclear factor NF-kappa-B p100 subunit; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain- containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the indi [...] " 9606.ENSP00000358994,MYO6,1285,Unconventional myosin-VI; Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. [...] 9606.ENSP00000358997,IRAK1,712,"Interleukin-1 receptor-associated kinase 1; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquit [...] " 9606.ENSP00000358999,TMEM187,261,Transmembrane protein 187. 9606.ENSP00000359000,GBF1,1859,"Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1; Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), a [...] " 9606.ENSP00000359013,TNFRSF6B,300,"Tumor necrosis factor receptor superfamily member 6B; Decoy receptor that can neutralize the cytotoxic ligands TNFS14/LIGHT, TNFSF15 and TNFSF6/FASL. Protects against apoptosis." 9606.ENSP00000359018,AKNAD1,836,Protein AKNAD1; AKNA domain containing 1. 9606.ENSP00000359019,PITX3,302,"Pituitary homeobox 3; Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep pro [...] " 9606.ENSP00000359022,ELOVL3,270,"Elongation of very long chain fatty acids protein 3; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and unsaturated acyl-CoA substrates with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different [...] " 9606.ENSP00000359025,STXBP3,592,"Syntaxin-binding protein 3; Together with STX4 and VAMP2, may play a role in insulin- dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes." 9606.ENSP00000359034,FNDC7,733,Fibronectin type III domain containing 7. 9606.ENSP00000359042,PRPF38B,546,Pre-mRNA-splicing factor 38B; May be required for pre-mRNA splicing. 9606.ENSP00000359045,ARHGAP4,986,Rho GTPase-activating protein 4; Inhibitory effect on stress fiber organization. May down- regulate Rho-like GTPase in hematopoietic cells. 9606.ENSP00000359049,HENMT1,393,"Small RNA 2'-O-methyltransferase; Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis." 9606.ENSP00000359050,ARMH3,689,"Armadillo-like helical domain-containing protein 3; Involved in GBF1 recruitment, Golgi maintenance and protein secretion." 9606.ENSP00000359052,FAM102B,360,Protein FAM102B; Family with sequence similarity 102 member B. 9606.ENSP00000359070,STMN3,180,"Stathmin-3; Exhibits microtubule-destabilizing activity, which is antagonized by STAT3; Belongs to the stathmin family." 9606.ENSP00000359073,VAV3,847,"Guanine nucleotide exchange factor VAV3; Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a [...] " 9606.ENSP00000359077,L1CAM,1257,"Neural cell adhesion molecule L1; Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity." 9606.ENSP00000359085,NTNG1,539,"Netrin-G1; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites." 9606.ENSP00000359095,PRMT6,375,"Protein arginine N-methyltransferase 6; Arginine methyltransferase that can catalyze the formation of both omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA. Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates. Specifically mediates the asymmetric dimethylation of histone H3 'Arg-2' to form H3R2me2a. H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on [...] " 9606.ENSP00000359096,AMY1C,511,Amylase alpha 1C. 9606.ENSP00000359098,COX7A2,115,"Cytochrome c oxidase subunit 7A2, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembran [...] " 9606.ENSP00000359100,AMY1A,511,Amylase alpha 1A. 9606.ENSP00000359114,COL11A1,1806,Collagen alpha-1(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. 9606.ENSP00000359119,SRPK3,567,"SRSF protein kinase 3; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity)." 9606.ENSP00000359127,DPH5,285,"Diphthine methyl ester synthase; S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis." 9606.ENSP00000359128,NPM3,178,"Nucleoplasmin-3; Plays a role in the regulation of diverse cellular processes such as ribosome biogenesis, chromatin remodeling or protein chaperoning. Modulates the histone chaperone function and the RNA-binding activity of nucleolar phosphoprotein B23/NPM. Efficiently mediates chromatin remodeling when included in a pentamer containing NPM3 and NPM ; Belongs to the nucleoplasmin family." 9606.ENSP00000359131,EXTL2,330,Processed exostosin-like 2; Glycosyltransferase required for the biosynthesis of heparan- sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. 9606.ENSP00000359151,DBT,482,"2-oxoisovalerate dehydrogenase E2 component (dihydrolipoyl transacylase); The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component." 9606.ENSP00000359160,TRMT13,481,"tRNA:m(4)X modification enzyme TRM13 homolog; tRNA methylase which 2'-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His)." 9606.ENSP00000359170,DPCD,203,Protein DPCD; May play a role in the formation or function of ciliated cells. 9606.ENSP00000359171,MFSD14A,490,Hippocampus abundant transcript 1 protein; Major facilitator superfamily domain containing 14A. 9606.ENSP00000359172,SLC35A3,367,UDP-N-acetylglucosamine transporter; Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. 9606.ENSP00000359181,POLL,575,DNA polymerase lambda; DNA polymerase that functions in several pathways of DNA repair. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination. Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities. Has also a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity. Belongs to the DNA polymerase type-X family. 9606.ENSP00000359198,PPDPF,114,Pancreatic progenitor cell differentiation and proliferation factor; Probable regulator of exocrine pancreas development. Belongs to the PPDPF family. 9606.ENSP00000359204,PLPPR4,763,Phospholipid phosphatase-related protein type 4; Hydrolyzes lysophosphatidic acid (LPA). Facilitates axonal outgrowth during development and regenerative sprouting. In the outgrowing axons acts as an ecto-enzyme and attenuates phospholipid- induced axon collapse in neurons and facilitates outgrowth in the hippocampus. 9606.ENSP00000359206,BTRC,605,"F-box/WD repeat-containing protein 1A; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling. SCF(BTRC) mediates the ubiquitination of phosphorylated NFKB1, ATF4, CDC25A, DLG1, FBXO5, PER1, SMAD3, SMAD4, SNAI1 and probably NFKB2. SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradatio [...] " 9606.ENSP00000359211,DPYD,1025,Dihydropyrimidine dehydrogenase [NADP(+)]; Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil; Belongs to the dihydropyrimidine dehydrogenase family. 9606.ENSP00000359212,LBX1,281,"Transcription factor LBX1; Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord." 9606.ENSP00000359215,TLX1,330,T-cell leukemia homeobox protein 1; Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'. 9606.ENSP00000359216,PTBP2,537,"Polypyrimidine tract-binding protein 2; RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-mRNA splicing, plays also a role in the regulation of translation. Isoform 5 has a reduced affinity for RNA." 9606.ENSP00000359219,KAZALD1,304,Kazal-type serine protease inhibitor domain-containing protein 1; Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity). 9606.ENSP00000359221,RWDD3,267,"RWD domain-containing protein 3; Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 and isoform 2 positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional acti [...] " 9606.ENSP00000359222,TLCD4,263,TLC domain containing 4. 9606.ENSP00000359224,ALG14,216,UDP-N-acetylglucosamine transferase subunit ALG14 homolog; May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER. Belongs to the ALG14 family. 9606.ENSP00000359225,CNN3,329,"Calponin-3; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity." 9606.ENSP00000359230,HAUS7,368,"HAUS augmin-like complex subunit 7; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex; Belongs to the HAUS7 family." 9606.ENSP00000359233,ABCD3,659,ATP-binding cassette sub-family D member 3; Probable transporter involved in the transport of branched- chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. 9606.ENSP00000359240,LZTS2,669,Leucine zipper putative tumor suppressor 2; Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta- catenin. Belongs to the LZTS2 family. 9606.ENSP00000359245,ABCA4,2273,"Retinal-specific phospholipid-transporting ATPase ABCA4; Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylethanolamine. In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all- trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR- PE). Once transported to the cytoplasmic su [...] " 9606.ENSP00000359258,GCLM,274,Glutamate-cysteine ligase modifier subunit; Belongs to the aldo/keto reductase family. Glutamate-- cysteine ligase light chain subfamily. 9606.ENSP00000359271,ZNF275,329,Zinc finger protein 275; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000359285,CHRNA4,627,"Neuronal acetylcholine receptor subunit alpha-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-4/CHRNA4 sub- subfamily." 9606.ENSP00000359292,SLF2,1186,SMC5-SMC6 complex localization factor protein 2; Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions ; Belongs to the FAM178 family. 9606.ENSP00000359295,DR1,176,"Protein Dr1; The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4." 9606.ENSP00000359297,NSDHL,373,"Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Belongs to the 3-beta-HSD family." 9606.ENSP00000359300,CETN2,172,"Centrin-2; Plays a fundamental role in microtubule organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CCP110. The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA hel [...] " 9606.ENSP00000359305,TMED5,229,"Transmembrane emp24 domain-containing protein 5; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport." 9606.ENSP00000359310,CSAG1,78,Putative chondrosarcoma-associated gene 1 protein; Chondrosarcoma associated gene 1. 9606.ENSP00000359319,PAX2,396,"Paired box protein Pax-2; Transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS." 9606.ENSP00000359321,MTF2,593,"Metal-response element-binding transcription factor 2; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated [...] " 9606.ENSP00000359333,DIPK1A,428,Divergent protein kinase domain 1A. 9606.ENSP00000359337,GABRA3,492,"Gamma-aminobutyric acid receptor subunit alpha-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000359339,CGAS,522,"Cyclic GMP-AMP synthase; Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (cGAMP) from ATP and GTP and plays a key role in innate immunity. Catalysis involves both the formation of a 2',5' phosphodiester linkage at the GpA step and the formation of a 3',5' phosphodiester linkage at the ApG step, producing c[G(2',5')pA(3',5')p]. Acts as a key cytosolic DNA sensor, the presence of double-stranded DNA (dsDNA) in the cytoplasm being a danger signal that triggers the immune responses. Binds cytosolic DNA directly, leading to activation and synthesis of cGAMP, a second m [...] " 9606.ENSP00000359340,NKAIN4,208,Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4; Sodium/potassium transporting ATPase interacting 4; Belongs to the NKAIN family. 9606.ENSP00000359345,RPL5,297,"60S ribosomal protein L5; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through [...] " 9606.ENSP00000359353,GABRE,506,"Gamma-aminobutyric acid receptor subunit epsilon; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000359361,DDX43,648,Probable ATP-dependent RNA helicase DDX43; DEAD-box helicase 43. 9606.ENSP00000359364,YTHDF1,559,"YTH domain-containing family protein 1; Specifically recognizes and binds N6-methyladenosine (m6A)- containing mRNAs, and promotes mRNA translation efficiency. M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Acts as a regulator of mRNA translation efficiency: promotes ribosome loading to m6A-containing mRNAs and interacts with translation initiation factors eIF3 (EIF3A or EIF3B) to facilitate translation initiation. Required to facilitate learning and memory formation in the [...] " 9606.ENSP00000359370,SEC31B,1179,"Protein transport protein Sec31B; As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum." 9606.ENSP00000359375,FATE1,183,Fetal and adult testis-expressed transcript protein; Involved in the regulation of endoplasmic reticulum (ER)- mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis. May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling. 9606.ENSP00000359376,SLC17A9,436,Solute carrier family 17 member 9; Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles. 9606.ENSP00000359378,PRRG3,231,Transmembrane gamma-carboxyglutamic acid protein 3; Proline rich and Gla domain 3. 9606.ENSP00000359380,SCD,359,Acyl-CoA desaturase; Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA. Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids. Plays an important role in lipid biosynthesis. Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (By simi [...] 9606.ENSP00000359382,PASD1,773,"Circadian clock protein PASD1; Functions as a suppressor of the biological clock that drives the daily circadian rhythms of cells throughout the body. Acts as a nuclear repressor of the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock components. Inhibits circadian clock function in cancer cells, when overexpressed." 9606.ENSP00000359384,OOEP,149,"Oocyte-expressed protein homolog; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the KHDC1 family." 9606.ENSP00000359385,GLMN,594,"Glomulin; [Isoform 1]: Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes. Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34. Inhibits RBX1-mediated neddylation of CUL1. Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for nor [...] " 9606.ENSP00000359386,VMA21,156,Vacuolar ATPase assembly integral membrane protein VMA21; Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. 9606.ENSP00000359392,KHDC3L,217,"KHDC3-like protein; KH domain containing 3 like, subcortical maternal complex member; Belongs to the KHDC1 family." 9606.ENSP00000359393,HMGB3,200,High mobility group protein B3; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cell [...] 9606.ENSP00000359396,DPPA5,116,Developmental pluripotency-associated 5 protein; Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity); Belongs to the KHDC1 family. 9606.ENSP00000359398,BLOC1S2,142,"Biogenesis of lysosome-related organelles complex 1 subunit 2; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in l [...] " 9606.ENSP00000359401,C1orf146,180,Uncharacterized protein C1orf146; Chromosome 1 open reading frame 146. 9606.ENSP00000359410,EPHX4,362,Epoxide hydrolase 4. 9606.ENSP00000359411,KHDC1,237,KH homology domain-containing protein 1; KH domain containing 1; Belongs to the KHDC1 family. 9606.ENSP00000359415,KHDC1L,128,Putative KHDC1-like protein; KH domain containing 1 like; Belongs to the KHDC1 family. 9606.ENSP00000359423,MTM1,603,"Myotubularin; Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not fo [...] " 9606.ENSP00000359424,CHUK,745,"Inhibitor of nuclear factor kappa-B kinase subunit alpha; Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into t [...] " 9606.ENSP00000359434,CXorf40B,158,Protein CXorf40B. 9606.ENSP00000359444,HSFX1,423,"Heat shock transcription factor family, X-linked 1." 9606.ENSP00000359446,CPN1,458,Carboxypeptidase N catalytic chain; Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation. 9606.ENSP00000359454,HFM1,1435,Probable ATP-dependent DNA helicase HFM1; Required for crossover formation and complete synapsis of homologous chromosomes during meiosis. 9606.ENSP00000359464,OGFRL1,451,Opioid growth factor receptor like 1. 9606.ENSP00000359469,ZNF644,1327,Zinc finger protein 644; May be involved in transcriptional regulation. 9606.ENSP00000359474,BARHL2,387,BarH-like 2 homeobox protein; Potential regulator of neural basic helix-loop-helix genes. 9606.ENSP00000359483,LRRC8C,803,"Volume-regulated anion channel subunit LRRC8C; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRR [...] " 9606.ENSP00000359484,SMAP1,467,Stromal membrane-associated protein 1; GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity). 9606.ENSP00000359485,GBP6,633,"Guanylate-binding protein 6; Binds GTP, GDP and GMP; Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily." 9606.ENSP00000359488,GBP5,586,"Guanylate-binding protein 5; As an activator of NLRP3 inflammasome assembly, plays a role in innate immunity and inflammation. Promotes selective NLRP3 inflammasome assembly in response to microbial and soluble, but not crystalline, agents. Hydrolyzes GTP, but in contrast to other family members, does not produce GMP. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily." 9606.ENSP00000359489,AFF2,1311,AF4/FMR2 family member 2; RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. 9606.ENSP00000359490,GBP4,640,"Guanylate-binding protein 4; Binds GTP, GDP and GMP. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product. Plays a role in erythroid differentiation (By similarity)." 9606.ENSP00000359497,GBP2,591,"Guanylate-binding protein 2; Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions, but the major reaction product is GDP. Exhibits antiviral activity against influenza virus. Promotes oxidative killing and delivers antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity); Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily." 9606.ENSP00000359498,FMR1NB,255,Fragile X mental retardation 1 neighbor protein; FMR1 neighbor. 9606.ENSP00000359504,GBP1,592,"Guanylate-binding protein 1; Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions. Exhibits antiviral activity against influenza virus. Promotes oxidative killing and delivers antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes." 9606.ENSP00000359505,SDHAF4,108,"Succinate dehydrogenase assembly factor 4, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron [...] " 9606.ENSP00000359506,FMR1,632,"Synaptic functional regulator FMR1; Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs. Plays a role in the alternative splicing of its own mRNA. Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsyna [...] " 9606.ENSP00000359507,CUTC,273,Copper homeostasis protein cutC homolog; May play a role in copper homeostasis. Can bind one Cu(1+) per subunit. 9606.ENSP00000359512,GBP3,595,Guanylate-binding protein 3; Exhibits antiviral activity against influenza virus. 9606.ENSP00000359518,MRGBP,204,"MRG/MORF4L-binding protein; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative [...] " 9606.ENSP00000359520,ENTPD7,604,Ectonucleoside triphosphate diphosphohydrolase 7; Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP. 9606.ENSP00000359524,SPANXN1,72,Sperm protein associated with the nucleus on the X chromosome N1; SPANX family member N1; Belongs to the SPAN-X family. 9606.ENSP00000359526,SLC25A28,364,"Mitoferrin-2; Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity); Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000359531,GTF2B,316,Transcription initiation factor IIB; General transcription factor that plays a role in transcription initiation by RNA polymerase II (Pol II). Involved in the pre-initiation complex (PIC) formation and Pol II recruitment at promoter DNA. Together with the TATA box-bound TBP forms the core initiation complex and provides a bridge between TBP and the Pol II-TFIIF complex. Released from the PIC early following the onset of transcription during the initiation and elongation transition and reassociates with TBP during the next transcription cycle. Associates with chromatin to core promoter- [...] 9606.ENSP00000359532,NTSR1,418,Neurotensin receptor type 1; G-protein coupled receptor for the tridecapeptide neurotensin (NTS). Signaling is effected via G proteins that activate a phosphatidylinositol-calcium second messenger system. Signaling leads to the activation of downstream MAP kinases and protects cells against apoptosis. 9606.ENSP00000359534,SPANXN3,141,Sperm protein associated with the nucleus on the X chromosome N3; SPANX family member N3; Belongs to the SPAN-X family. 9606.ENSP00000359539,GOT1,413,"Aspartate aminotransferase, cytoplasmic; Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-m [...] " 9606.ENSP00000359540,CREG1,220,Protein CREG1; May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R; Belongs to the CREG family. 9606.ENSP00000359546,SPANXD,97,Sperm protein associated with the nucleus on the X chromosome D; SPANX family member D; Belongs to the SPAN-X family. 9606.ENSP00000359549,SPANXA2,97,Sperm protein associated with the nucleus on the X chromosome A; SPANX family member A2; Belongs to the SPAN-X family. 9606.ENSP00000359550,SPANXA1,97,"Sperm protein associated with the nucleus, X-linked, family member A1." 9606.ENSP00000359552,PKN2,984,"Serine/threonine-protein kinase N2; PKC-related serine/threonine-protein kinase and Rho/Rac effector protein that participates in specific signal transduction responses in the cell. Plays a role in the regulation of cell cycle progression, actin cytoskeleton assembly, cell migration, cell adhesion, tumor cell invasion and transcription activation signaling processes. Phosphorylates CTTN in hyaluronan-induced astrocytes and hence decreases CTTN ability to associate with filamentous actin. Phosphorylates HDAC5, therefore lead to impair HDAC5 import. Direct RhoA target required for the re [...] " 9606.ENSP00000359557,LDOC1,146,Protein LDOC1; May have an important role in the development and/or progression of some cancers; Belongs to the LDOC1 family. 9606.ENSP00000359563,CDR1,262,Cerebellar degeneration related protein 1. 9606.ENSP00000359567,SOX3,446,Transcription factor SOX-3; Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By s [...] 9606.ENSP00000359571,CXorf66,361,Uncharacterized protein CXorf66; Chromosome X open reading frame 66. 9606.ENSP00000359575,LMO4,165,LIM domain transcription factor LMO4; Probable transcriptional factor. 9606.ENSP00000359579,HS2ST1-2,303,Heparan sulfate 2-O-sulfotransferase 1. 9606.ENSP00000359581,HS2ST1,356,"Heparan sulfate 2-O-sulfotransferase 1; Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand- binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity)." 9606.ENSP00000359583,HPSE2,592,"Inactive heparanase-2; Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro)." 9606.ENSP00000359594,CLCA4,919,"Calcium-activated chloride channel regulator 4, 110 kDa form; May be involved in mediating calcium-activated chloride conductance." 9606.ENSP00000359596,CLCA2,943,"Calcium-activated chloride channel regulator 2, 109 kDa form; Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4. Belongs to the CLCR family." 9606.ENSP00000359600,ODF2L,636,"Protein BCAP; Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis; Belongs to the ODF2 family." 9606.ENSP00000359603,COL24A1,1714,Collagen alpha-1(XXIV) chain; May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development. Belongs to the fibrillar collagen family. 9606.ENSP00000359606,ZNHIT6,470,"Box C/D snoRNA protein 1; Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis. Belongs to the BCD1 family." 9606.ENSP00000359607,PYROXD2,581,Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2; Probable oxidoreductase; Belongs to the carotenoid/retinoid oxidoreductase family. 9606.ENSP00000359621,MCOLN3,553,"Mucolipin-3; Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)- permeable cation channel with inwardly rectifying activity. Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway. Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle gro [...] " 9606.ENSP00000359629,CRTAC1,661,Cartilage acidic protein 1. 9606.ENSP00000359630,ADGRB3,1522,Adhesion G protein-coupled receptor B3; Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000359634,GOLGA7B,167,Golgin subfamily A member 7B; May be involved in protein transport from Golgi to cell surface; Belongs to the ERF4 family. 9606.ENSP00000359640,MCOLN2,566,"Mucolipin-2; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity. May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6- regulated recycling pathway. May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine se [...] " 9606.ENSP00000359643,LPAR3,353,"Lysophosphatidic acid receptor 3; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. May play a role in the development of ovarian cancer. Seems to be coupled to the G(i)/G(o) and G(q) families of heteromeric G proteins." 9606.ENSP00000359645,RBMX,391,"RNA-binding motif protein, X chromosome, N-terminally processed; RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue- specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the suprasplic [...] " 9606.ENSP00000359655,EYS,3165,"Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells. Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity); Belongs to the EYS family." 9606.ENSP00000359660,AVPI1,147,"Arginine vasopressin-induced protein 1; May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling." 9606.ENSP00000359663,CD40LG,261,"CD40 ligand, membrane form; Cytokine that acts as a ligand to CD40/TNFRSF5. Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation. Induces the activation of NF-kappa-B. Induces the activation of kinases MAPK8 and PAK2 in T-cells. Induces tyrosine phosphorylation of isoform 3 of CD28. Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4 (By similarity). Invo [...] " 9606.ENSP00000359664,CTBS,385,"Di-N-acetylchitobiase; Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N- acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase; Belongs to the glycosyl hydrolase 18 family." 9606.ENSP00000359665,PI4K2A,479,"Phosphatidylinositol 4-kinase type 2-alpha; Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4- phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second mess [...] " 9606.ENSP00000359668,VGLL1,258,Transcription cofactor vestigial-like protein 1; May act as a specific coactivator for the mammalian TEFs. Belongs to the vestigial family. 9606.ENSP00000359674,C10orf62,223,Uncharacterized protein C10orf62; Chromosome 10 open reading frame 62. 9606.ENSP00000359675,GNG5,68,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000359680,HOGA1,327,"4-hydroxy-2-oxoglutarate aldolase, mitochondrial; Catalyzes the final step in the metabolic pathway of hydroxyproline; Belongs to the DapA family." 9606.ENSP00000359682,BRS3,399,"Bombesin receptor subtype-3; Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000359683,E9PAM4_HUMAN,449,PI3K/PI4K domain-containing protein. 9606.ENSP00000359685,ENSP00000359685,44,Uncharacterized protein. 9606.ENSP00000359688,RPF1,349,Ribosome production factor 1; May be required for ribosome biogenesis. 9606.ENSP00000359691,LGSN,509,Lengsin; May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity); Belongs to the glutamine synthetase family. 9606.ENSP00000359693,FKBP1C,108,FKBP prolyl isomerase 1C. 9606.ENSP00000359698,UBTD1,227,Ubiquitin domain-containing protein 1; May be involved in the regulation of cellular senescence through a positive feedback loop with TP53. Is a TP53 downstream target gene that increases the stability of TP53 protein by promoting the ubiquitination and degradation of MDM2. 9606.ENSP00000359699,DNASE2B,361,Deoxyribonuclease-2-beta; Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation. 9606.ENSP00000359707,SAMD13,116,Sterile alpha motif domain containing 13. 9606.ENSP00000359719,PRKACB,398,"cAMP-dependent protein kinase catalytic subunit beta; Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs. PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subu [...] " 9606.ENSP00000359727,BAG2,211,BAG family molecular chaperone regulator 2; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. 9606.ENSP00000359729,SLC9A6,701,Sodium/hydrogen exchanger 6; Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. 9606.ENSP00000359740,ZNF451,1061,E3 SUMO-protein ligase ZNF451; E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins. Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1. Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site 'Lys-11'. Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300-mediated ac [...] 9606.ENSP00000359765,ADGRL2,1416,"Adhesion G protein-coupled receptor L2; Calcium-independent receptor of low affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor probably implicated in the regulation of exocytosis. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily." 9606.ENSP00000359768,KIAA1586,787,E3 SUMO-protein ligase KIAA1586; E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins. 9606.ENSP00000359778,ADGRL4,690,Adhesion G protein-coupled receptor L4; Endothelial orphan receptor that acts as a key regulator of angiogenesis. 9606.ENSP00000359782,BEND6,279,"BEN domain-containing protein 6; Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis." 9606.ENSP00000359783,IFI44,444,Interferon-induced protein 44; This protein aggregates to form microtubular structures. Belongs to the IFI44 family. 9606.ENSP00000359787,IFI44L,452,Interferon-induced protein 44-like; Exhibits a low antiviral activity against hepatitis C virus. Belongs to the IFI44 family. 9606.ENSP00000359793,PTGFR,359,Prostaglandin F2-alpha receptor; Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum (By similarity). Isoforms 2 to 7 do not bind PGF2-alpha but are proposed to modulate signaling by participating in variant receptor complexes; heterodimers between isoform 1 and isoform 5 are proposed to be a receptor for prostamides including the synthetic analog bimatoprost. 9606.ENSP00000359795,GIPC2,315,PDZ domain-containing protein GIPC2; GIPC PDZ domain containing family member 2; Belongs to the GIPC family. 9606.ENSP00000359799,DNAJB4,337,DnaJ homolog subfamily B member 4; Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro). 9606.ENSP00000359802,ZNF75D,510,Zinc finger protein 75D; May be involved in transcriptional regulation. 9606.ENSP00000359804,FUBP1,644,Far upstream element-binding protein 1; Regulates MYC expression by binding to a single-stranded far- upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription. 9606.ENSP00000359818,MMS19,1030,"MMS19 nucleotide excision repair protein homolog; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER), homologous recombination-mediated double-strand break DNA repair, DNA repli [...] " 9606.ENSP00000359819,MOSPD1,213,"Motile sperm domain-containing protein 1; Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to- mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation." 9606.ENSP00000359820,FAM122C,195,Protein FAM122C; Family with sequence similarity 122C. 9606.ENSP00000359829,USP33,942,"Ubiquitin carboxyl-terminal hydrolase 33; Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the ne [...] " 9606.ENSP00000359837,ZZZ3,903,"ZZ-type zinc finger-containing protein 3; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4." 9606.ENSP00000359848,PIGK,395,"GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein; Belongs to the peptidase C13 family." 9606.ENSP00000359859,MTG2,406,Mitochondrial ribosome-associated GTPase 2; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process. 9606.ENSP00000359864,GPC4,556,Secreted glypican-4; Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity). 9606.ENSP00000359866,BMP5,454,Bone morphogenetic protein 5; Induces cartilage and bone formation. 9606.ENSP00000359871,ACADM,454,"Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)." 9606.ENSP00000359890,MBNL3,354,"Muscleblind-like protein 3; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction." 9606.ENSP00000359892,SLC44A5,719,Choline transporter-like protein 5; Solute carrier family 44 member 5; Belongs to the CTL (choline transporter-like) family. 9606.ENSP00000359904,TYW3,259,tRNA wybutosine-synthesizing protein 3 homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity); Belongs to the TYW3 family. 9606.ENSP00000359910,PSMA7,248,"Proteasome subunit alpha type-7; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000359911,RAP2C,183,Ras-related protein Rap-2c; Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May play a role in SRE-mediated gene transcription. 9606.ENSP00000359925,LRRC1,524,Leucine-rich repeat-containing protein 1; Leucine rich repeat containing 1. 9606.ENSP00000359935,FPGT,607,Fucose-1-phosphate guanylyltransferase; Catalyzes the formation of GDP-L-fucose from GTP and L- fucose-1-phosphate. Functions as a salvage pathway to reutilize L- fucose arising from the turnover of glycoproteins and glycolipids. 9606.ENSP00000359939,EXOSC1,195,"Exosome complex component CSL4; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytop [...] " 9606.ENSP00000359940,IGSF1,1341,"Immunoglobulin superfamily member 1; Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin- stimulated transcription." 9606.ENSP00000359942,KLHL31,634,Kelch-like protein 31; Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE). 9606.ENSP00000359956,ELOVL5,326,Elongation of very long chain fatty acids protein 5; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involv [...] 9606.ENSP00000359958,ZRANB2,330,Zinc finger Ran-binding domain-containing protein 2; Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5'-splice site selection. 9606.ENSP00000359976,CTH,405,"Cystathionine gamma-lyase; Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target protei [...] " 9606.ENSP00000359978,HHLA3,121,HERV-H LTR-associating 3. 9606.ENSP00000359982,ANKRD13C,541,"Ankyrin repeat domain-containing protein 13C; Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER." 9606.ENSP00000359988,SRSF11,484,Serine/arginine-rich splicing factor 11; May function in pre-mRNA splicing. 9606.ENSP00000359990,LRRC40,602,Leucine-rich repeat-containing protein 40; Leucine rich repeat containing 40. 9606.ENSP00000359991,PGAM1,254,"Phosphoglycerate mutase 1; Interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity." 9606.ENSP00000360002,GSTA4,222,Glutathione S-transferase A4; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. This isozyme has a high catalytic efficiency with 4-hydroxyalkenals such as 4- hydroxynonenal (4-HNE). 9606.ENSP00000360017,ZNF280C,737,Zinc finger protein 280C; May function as a transcription factor. 9606.ENSP00000360020,DIRAS3,229,GTP-binding protein Di-Ras3; DIRAS family GTPase 3. 9606.ENSP00000360021,GNG12,72,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000360025,GADD45A,165,"Growth arrest and DNA damage-inducible protein GADD45 alpha; In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase; Belongs to the GADD45 family." 9606.ENSP00000360028,GSTA5,222,Glutathione S-transferase alpha 5. 9606.ENSP00000360034,SERBP1,408,"Plasminogen activator inhibitor 1 RNA-binding protein; May play a role in the regulation of mRNA stability. Binds to the 3'-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay. Seems to play a role in PML-nuclear bodies formation." 9606.ENSP00000360035,PPP1R3D,299,"Protein phosphatase 1 regulatory subunit 3D; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis." 9606.ENSP00000360046,C1orf141,400,Uncharacterized protein C1orf141; Chromosome 1 open reading frame 141. 9606.ENSP00000360054,PHACTR3,559,Phosphatase and actin regulator 3. 9606.ENSP00000360058,FRAT2,233,GSK-3-binding protein FRAT2; Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3; Belongs to the GSK-3-binding protein family. 9606.ENSP00000360060,FRAT1,279,Proto-oncogene FRAT1; Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. May play a role in tumor progression and collaborate with PIM1 and MYC in lymphomagenesis. 9606.ENSP00000360065,WDR78,848,WD repeat-containing protein 78. 9606.ENSP00000360076,SGIP1,828,SH3-containing GRB2-like protein 3-interacting protein 1; May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis. 9606.ENSP00000360107,EFHC1,640,"EF-hand domain-containing protein 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death." 9606.ENSP00000360108,DNAJC6,970,Putative tyrosine-protein phosphatase auxilin; Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin- mediated endocytosis in neurons (By similarity). 9606.ENSP00000360112,RAVER2,678,Ribonucleoprotein PTB-binding 2; May bind single-stranded nucleic acids. 9606.ENSP00000360116,UBE2U,226,Ubiquitin-conjugating enzyme E2 U; Catalyzes the covalent attachment of ubiquitin to other proteins; Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000360120,ROR1,937,"Inactive tyrosine-protein kinase transmembrane receptor ROR1; Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo. Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling. In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells." 9606.ENSP00000360124,PGM1,580,Phosphoglucomutase-1; This enzyme participates in both the breakdown and synthesis of glucose; Belongs to the phosphohexose mutase family. 9606.ENSP00000360129,EFCAB7,629,EF-hand calcium-binding domain-containing protein 7; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia. 9606.ENSP00000360133,ITGB3BP,216,"Centromere protein R; Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF-kappa-B subunit, possibly by interfering with the transactivation [...] " 9606.ENSP00000360141,GNAS,1037,"Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein- coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity)." 9606.ENSP00000360147,XPNPEP2,674,"Xaa-Pro aminopeptidase 2; Membrane-bound metalloprotease which catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. May play a role in the metabolism of the vasodilator bradykinin; Belongs to the peptidase M24B family." 9606.ENSP00000360154,OCRL,901,"Inositol polyphosphate 5-phosphatase OCRL; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2. Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate. Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes. Involved in primary cilia assembly. Acts as a regu [...] " 9606.ENSP00000360157,FOXD3,478,Forkhead box protein D3; Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance of pluripotent cells in the pre-implantation and peri- implantation stages of embryogenesis. 9606.ENSP00000360158,PKHD1,4074,Fibrocystin; May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. 9606.ENSP00000360162,SMARCA1,1070,Probable global transcription activator SNF2L1; Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP- dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells. Belongs to the SNF2/RAD54 helicase family. ISWI subfamily. 9606.ENSP00000360165,ACTRT1,376,"Actin-related protein T1; Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression; Belongs to the actin family." 9606.ENSP00000360166,PRR32,298,Proline-rich protein 32; Proline rich 32. 9606.ENSP00000360167,DCAF12L1,463,DDB1- and CUL4-associated factor 12-like protein 1; DDB1 and CUL4 associated factor 12 like 1. 9606.ENSP00000360170,ANGPTL3,460,"Angiopoietin-related protein 3; Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism. Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LP [...] " 9606.ENSP00000360181,SH2D1A,128,"SH2 domain-containing protein 1A; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2. However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1. Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Ca [...] " 9606.ENSP00000360183,STX16,325,Syntaxin-16; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. 9606.ENSP00000360184,TM9SF3,589,Transmembrane 9 superfamily member 3. 9606.ENSP00000360190,DEFB110,67,Beta-defensin 110; Has antibacterial activity. 9606.ENSP00000360191,APCDD1L,501,Protein APCDD1-like; APC down-regulated 1 like. 9606.ENSP00000360195,KANK4,995,KN motif and ankyrin repeat domain-containing protein 4; May be involved in the control of cytoskeleton formation by regulating actin polymerization. 9606.ENSP00000360210,C20orf85,137,Uncharacterized protein C20orf85; Chromosome 20 open reading frame 85. 9606.ENSP00000360214,OPALIN,141,Opalin; Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation. Promotes oligodendrocyte terminal differentiation. 9606.ENSP00000360215,ZBP1,429,"Z-DNA-binding protein 1; Participates in the detection by the host's innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity)." 9606.ENSP00000360216,DNTT,509,DNA nucleotidylexotransferase; Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells. 9606.ENSP00000360217,RHAG,409,Ammonium transporter Rh type A; Associated with rhesus blood group antigen expression. May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. Involved in ammonia transport across the erythrocyte membrane. Seems to act in monovalent cation transport. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily. 9606.ENSP00000360231,NFIA,554,Nuclear factor 1 A-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. 9606.ENSP00000360240,GLYATL3,288,"Glycine N-acyltransferase-like protein 3; Catalyzes the conjugation of long-chain fatty acyl-CoA thioester and glycine to produce long-chain N-(fatty acyl)glycine, an intermediate in the primary fatty acid amide biosynthetic pathway." 9606.ENSP00000360242,XIAP,497,"E3 ubiquitin-protein ligase XIAP; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis. Acts as a direct caspase inhibitor. Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry. Inactivates CASP9 by keeping it in a monomeric, inactive state. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligas [...] " 9606.ENSP00000360244,C1orf87,546,Uncharacterized protein C1orf87; Chromosome 1 open reading frame 87. 9606.ENSP00000360247,CYP2J2,502,"Cytochrome P450 2J2; A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) in the cardiovascular system. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of PUFA. Converts arachidonic acid to four regioisomeric epoxyeicosatrienoic acids (EpETrE), likely playing a major role in the epoxidation of endogenous cardiac arachidonic [...] " 9606.ENSP00000360250,ENTPD1,522,"Ectonucleoside triphosphate diphosphohydrolase 1; In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well. Belongs to the GDA1/CD39 NTPase family." 9606.ENSP00000360252,HOOK1,728,Protein Hook homolog 1; Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). 9606.ENSP00000360255,OPN5,354,Opsin-5; Opsin 5. 9606.ENSP00000360262,FGGY,575,FGGY carbohydrate kinase domain containing; Belongs to the FGGY kinase family. 9606.ENSP00000360266,JUN,331,Transcription factor AP-1; Transcription factor that recognizes and binds to the enhancer heptamer motif 5'-TGA[CG]TCA-3'. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells. Binds to the USP28 promoter in colorectal cancer (CRC) cells. Belongs to the bZIP family. Jun subfamily. 9606.ENSP00000360268,ALDH18A1,795,"Delta-1-pyrroline-5-carboxylate synthase; Bifunctional enzyme that converts glutamate to glutamate 5- semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine." 9606.ENSP00000360269,TACSTD2,323,Tumor-associated calcium signal transducer 2; May function as a growth factor receptor; Belongs to the EPCAM family. 9606.ENSP00000360270,OMA1,524,"Metalloendopeptidase OMA1, mitochondrial; Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions. Belongs to the peptidase [...] " 9606.ENSP00000360280,DAB1,555,Disabled homolog 1; Adapter molecule functioning in neural development. May regulate SIAH1 activity. 9606.ENSP00000360281,C8B,591,Complement component C8 beta chain; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells; Belongs to the complement C6/C7/C8/C9 family. 9606.ENSP00000360290,PRKAA2,552,"5'-AMP-activated protein kinase catalytic subunit alpha-2; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts a [...] " 9606.ENSP00000360293,SORBS1,1292,Sorbin and SH3 domain-containing protein 1; Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity). 9606.ENSP00000360296,PLPP3,311,"Phospholipid phosphatase 3; Magnesium-independent phospholipid phosphatase of the plasma membrane that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, diacylglycerol pyrophosphate/DGPP, sphingosine 1-phosphate/S1P and ceramide 1- phosphate/C1P. Also acts on N-oleoyl ethanolamine phosphate/N-(9Z-octadecenoyl)- ethanolamine phosphate, a potential physiological compound. Has both an extracellular and an intracellular phosphatase activity, allowing the hydrolysis and the cellular uptake of the [...] " 9606.ENSP00000360299,ADGRF1,910,Adhesion G-protein coupled receptor F1; Orphan receptor; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000360305,PDLIM1,329,"PDZ and LIM domain protein 1; Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton. Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity)." 9606.ENSP00000360310,SPO11,396,"Meiotic recombination protein SPO11; Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2." 9606.ENSP00000360315,TMEM61,210,Transmembrane protein 61. 9606.ENSP00000360316,DHCR24,516,"Delta(24)-sterol reductase; Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. In addition to its cholesterol-synthesizing activity, can protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis." 9606.ENSP00000360317,CYP2C8,490,"Cytochrome P450 2C8; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Primarily catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond. Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabol [...] " 9606.ENSP00000360320,LEXM,418,Lymphocyte expansion molecule. 9606.ENSP00000360323,TTC22,569,Tetratricopeptide repeat domain 22. 9606.ENSP00000360327,PARS2,475,"Probable proline--tRNA ligase, mitochondrial; prolyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000360329,TTC4,387,Tetratricopeptide repeat protein 4; May act as a co-chaperone for HSP90AB1. Promotes Sendai virus (SeV)-induced host cell innate immune responses. 9606.ENSP00000360360,CT47B1,299,Cancer/testis antigen family 47 member B1. 9606.ENSP00000360365,MCTS1,182,"Malignant T-cell-amplified sequence 1; Anti-oncogene that plays a role in cell cycle regulation; decreases cell doubling time and anchorage-dependent growth; shortens the duration of G1 transit time and G1/S transition. When constitutively expressed, increases CDK4 and CDK6 kinases activity and CCND1/cyclin D1 protein level, as well as G1 cyclin/CDK complex formation. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated diss [...] " 9606.ENSP00000360366,ACOT11,607,Acyl-coenzyme A thioesterase 11; Has an acyl-CoA thioesterase activity with a preference for the long chain fatty acyl-CoA thioesters hexadecanoyl-CoA/palmitoyl-CoA and tetradecanoyl-CoA/myristoyl-CoA which are the main substrates in the mitochondrial beta-oxidation pathway. 9606.ENSP00000360371,SSBP3,388,Single-stranded DNA-binding protein 3; May be involved in transcription regulation of the alpha 2(I) collagen gene where it binds to the single-stranded polypyrimidine sequences in the promoter region. 9606.ENSP00000360372,CYP2C19,490,"Cytochrome P450 2C19; A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 position. Catalyzes the epoxidation of double bonds of PUFA. Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limo [...] " 9606.ENSP00000360376,FAM209B,171,Protein FAM209B; Family with sequence similarity 209 member B. 9606.ENSP00000360379,FAM209A,171,Protein FAM209A; Family with sequence similarity 209 member A. 9606.ENSP00000360398,SLC25A27,323,"Mitochondrial uncoupling protein 4; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. May play a role in thermoregulatory heat production and metabolism in brain; Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000360411,LDLRAD1,205,Low density lipoprotein receptor class A domain containing 1. 9606.ENSP00000360412,NOC3L,800,Nucleolar complex protein 3 homolog; May be required for adipogenesis. 9606.ENSP00000360421,LRRC42,428,Leucine-rich repeat-containing protein 42; Leucine rich repeat containing 42; Belongs to the LRRC42 family. 9606.ENSP00000360423,CACNA1B,2339,"Voltage-dependent N-type calcium channel subunit alpha-1B; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by omega-conotoxin- GVIA (AC P01522) (AC P01522) (By similarity). They are h [...] " 9606.ENSP00000360425,RCAN2,243,Calcipressin-2; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development; Belongs to the RCAN family. 9606.ENSP00000360431,PLCE1,2302,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T- cell activation." 9606.ENSP00000360436,ENPP5,477,Ectonucleotide pyrophosphatase/phosphodiesterase family member 5; Can hydrolyze NAD but cannot hydrolyze nucleotide di- and triphosphates. Lacks lysopholipase D activity. May play a role in neuronal cell communication; Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. 9606.ENSP00000360437,FAM210B,192,"Protein FAM210B, mitochondrial; Plays a role in erythroid differentiation. Involved in cell proliferation and tumor cell growth suppression. Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner. Belongs to the FAM210 family." 9606.ENSP00000360441,RHOXF2,288,Rhox homeobox family member 2; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis. 9606.ENSP00000360455,RHOXF2B,288,Rhox homeobox family member 2B; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis. Belongs to the paired-like homeobox family. PEPP subfamily. 9606.ENSP00000360464,NKAP,415,NF-kappa-B-activating protein; Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF- kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter; Belongs to the NKAP family. 9606.ENSP00000360472,LGI1,557,"Leucine-rich glioma-inactivated protein 1; Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival." 9606.ENSP00000360473,PFDN4,134,Prefoldin subunit 4; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family. 9606.ENSP00000360475,ARRDC1,433,"Arrestin domain-containing protein 1; Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates. Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles. More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles. By participating to the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway ; Belongs to the arrestin family." 9606.ENSP00000360483,NDC1,674,"Nucleoporin NDC1; Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane." 9606.ENSP00000360485,AKAP14,197,A-kinase anchor protein 14; Binds to type II regulatory subunits of protein kinase A and anchors/targets them. 9606.ENSP00000360488,FRA10AC1,315,Protein FRA10AC1; FRA10A associated CGG repeat 1. 9606.ENSP00000360492,NDUFA1,70,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000360493,RUNX2,521,"Runt-related transcription factor 2; Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2- media [...] " 9606.ENSP00000360497,RNF113A,343,"E3 ubiquitin-protein ligase RNF113A; Required for pre-mRNA splicing as component of the spliceosome. E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins. Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains. Plays a role in DNA repair via its role in the synthesis of 'Lys-63'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents. Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling." 9606.ENSP00000360498,MRPL41,137,"39S ribosomal protein L41, mitochondrial; Component of the mitochondrial ribosome large subunit. Also involved in apoptosis and cell cycle. Enhances p53/TP53 stability, thereby contributing to p53/TP53-induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins." 9606.ENSP00000360500,DMRTB1,342,Doublesex- and mab-3-related transcription factor B1; DMRT like family B with proline rich C-terminal 1; Belongs to the DMRT family. 9606.ENSP00000360502,PDE6C,858,"Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP." 9606.ENSP00000360515,SUPT3H,328,Transcription initiation protein SPT3 homolog; Probable transcriptional activator. 9606.ENSP00000360522,RBP4,201,"Plasma retinol-binding protein(1-176); Retinol-binding protein that mediates retinol transport in blood plasma. Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane ; Belongs to the calycin superfamily. Lipocalin family." 9606.ENSP00000360525,MAGOH,146,Protein mago nashi homolog; Required for pre-mRNA splicing as component of the spliceosome. Plays a redundant role with MAGOHB as core component of the exon junction complex (EJC) and in the nonsense- mediated decay (NMD) pathway. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components re [...] 9606.ENSP00000360526,ZNF217,1048,Zinc finger protein 217; Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'. 9606.ENSP00000360530,NSMF,530,NMDA receptor synaptonuclear signaling and neuronal migration factor; Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells; Belongs to the NSMF family. 9606.ENSP00000360532,CDC5L,802,"Cell division cycle 5-like protein; DNA-binding protein involved in cell cycle control. May act as a transcription activator. Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR)." 9606.ENSP00000360538,FFAR4,377,"Free fatty acid receptor 4; Receptor for medium and long-chain free fatty acids (FFAs). Signals via a G(q)/G(11)-coupled pathway. Acts as a receptor for omega- 3 fatty acids and mediates robust anti-inflammatory effects, particularly in macrophages and fat cells. The anti-inflammatory effects involve inhibition of TAK1 through a beta-arrestin 2 (ARRB2)/TAB1-dependent effect, but independent of the G(q)/G(11)- coupled pathway. Mediates potent insulin sensitizing and antidiabetic effects by repressing macrophage-induced tissue inflammation. May mediate the taste of fatty acids. Mediates [...] " 9606.ENSP00000360540,CEP55,464,Centrosomal protein of 55 kDa; Plays a role in mitotic exit and cytokinesis. Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis. Not required for microtubule nucleation. Plays a role in the development of the brain and kidney. 9606.ENSP00000360541,CPT2,658,"Carnitine O-palmitoyltransferase 2, mitochondrial; Carnitine palmitoyltransferase 2." 9606.ENSP00000360552,TSHZ2,1034,Teashirt homolog 2; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). Belongs to the teashirt C2H2-type zinc-finger protein family. 9606.ENSP00000360560,TCTE1,501,Dynein regulatory complex subunit 5; Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. May play a role in the assembly of N-DRC. May be required for sperm motility. 9606.ENSP00000360561,ENTPD8,495,"Ectonucleoside triphosphate diphosphohydrolase 8; Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Ectonucleoside NTPDases catalyze the hydrolysis of gamma- and beta-phosphate residues of nucleotides, playing a central role in concentration of extracellular nucleotides. Has activity toward ATP, ADP, UTP and UDP, but not toward AMP." 9606.ENSP00000360569,SCP2,547,"Non-specific lipid-transfer protein; Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis." 9606.ENSP00000360576,NDOR1,606,NADPH-dependent diflavin oxidoreductase 1; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins (By similarity). Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1; Belongs to the NADPH-dependent diflavin oxidoreductase NDOR1 family. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. 9606.ENSP00000360577,ECHDC2,292,"Enoyl-CoA hydratase domain-containing protein 2, mitochondrial; enoyl-CoA hydratase domain containing 2; Belongs to the enoyl-CoA hydratase/isomerase family." 9606.ENSP00000360583,ZYG11A,759,Protein zyg-11 homolog A; Probably acts as target recruitment subunit in an E3 ubiquitin ligase complex ZYGA-CUL2-elongin BC; Belongs to the zyg-11 family. 9606.ENSP00000360593,COA7,231,Cytochrome c oxidase assembly factor 7; Required for assembly of mitochondrial respiratory chain complex I and complex IV; Belongs to the hcp beta-lactamase family. 9606.ENSP00000360597,LRRC26,334,"Leucine-rich repeat-containing protein 26; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low-voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium." 9606.ENSP00000360608,GRIN1,943,"Glutamate receptor ionotropic, NMDA 1; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition." 9606.ENSP00000360609,HSP90AB1,724,"Heat shock protein HSP 90-beta; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co- chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a range of client protein classes via its interact [...] " 9606.ENSP00000360613,UBE2A,152,"Ubiquitin-conjugating enzyme E2 A; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys- 120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Requi [...] " 9606.ENSP00000360623,ORC1,861,Origin recognition complex subunit 1; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication; Belongs to the ORC1 family. 9606.ENSP00000360626,KCNG1,513,Potassium voltage-gated channel subfamily G member 1; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1. Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.1/KCNG1 sub-subfamily. 9606.ENSP00000360635,DPP7,492,Dipeptidyl peptidase 2; Plays an important role in the degradation of some oligopeptides. 9606.ENSP00000360638,DPM1,287,"Dolichol-phosphate mannosyltransferase subunit 1; Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex." 9606.ENSP00000360642,CC2D1B,858,Coiled-coil and C2 domain-containing protein 1B; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. 9606.ENSP00000360645,MAN1B1,699,"Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2); Belongs to the glycosyl hydrolase 47 family." 9606.ENSP00000360660,NPDC1,325,Neural proliferation differentiation and control protein 1; Suppresses oncogenic transformation in neural and non-neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (By similarity); Belongs to the NPDC1/cab-1 family. 9606.ENSP00000360662,ADNP,1102,Activity-dependent neuroprotector homeobox protein; Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. 9606.ENSP00000360664,BTF3L4,158,Basic transcription factor 3 like 4; Belongs to the NAC-beta family. 9606.ENSP00000360671,SLC25A5,298,"ADP/ATP translocase 2, N-terminally processed; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation." 9606.ENSP00000360672,PARD6B,372,"Partitioning defective 6 homolog beta; Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins; Belongs to the PAR6 family." 9606.ENSP00000360676,KTI12,354,KTI12 chromatin associated homolog. 9606.ENSP00000360682,PAXX,204,"Protein PAXX; Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery." 9606.ENSP00000360683,PTPN1,435,Tyrosine-protein phosphatase non-receptor type 1; Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c- src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of MET. Belongs to the protein-tyrosi [...] 9606.ENSP00000360687,PTGDS,190,"Prostaglandin-H2 D-isomerase; Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophobic molecules and as a secretory retinoid and thyroid hormone transporter. Possib [...] " 9606.ENSP00000360688,TXNDC12,172,Thioredoxin domain-containing protein 12; Possesses significant protein thiol-disulfide oxidase activity. 9606.ENSP00000360689,TNKS2,1166,"Poly [ADP-ribose] polymerase tankyrase-2; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly- ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates [...] " 9606.ENSP00000360690,LONRF3,759,LON peptidase N-terminal domain and ring finger 3. 9606.ENSP00000360696,LCN12,192,Epididymal-specific lipocalin-12; Binds all-trans retinoic acid and may act as a retinoid carrier protein within the epididymis. May play a role in male fertility (By similarity). 9606.ENSP00000360697,C8G,202,"Complement component C8 gamma chain; C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol." 9606.ENSP00000360715,TMEM189,270,"Plasmanylethanolamine desaturase; Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane. Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms." 9606.ENSP00000360718,RAB3B,219,Ras-related protein Rab-3B; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000360727,RABL6,730,Rab-like protein 6; May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A. 9606.ENSP00000360730,IL13RA1,427,"Interleukin-13 receptor subunit alpha-1; Binds with low affinity to interleukin-13 (IL13). Together with IL4RA can form a functional receptor for IL13. Also serves as an alternate accessory protein to the common cytokine receptor gamma chain for interleukin-4 (IL4) signaling, but cannot replace the function of IL2RG in allowing enhanced interleukin-2 (IL2) binding activity; Belongs to the type I cytokine receptor family. Type 5 subfamily." 9606.ENSP00000360757,DIPK1B,431,Divergent protein kinase domain 1B; Belongs to the DIPK family. 9606.ENSP00000360761,AGPAT2,278,"1-acyl-sn-glycerol-3-phosphate acyltransferase beta; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone." 9606.ENSP00000360762,ANKRD1,319,Ankyrin repeat domain-containing protein 1; May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. 9606.ENSP00000360764,EGFL7,273,Epidermal growth factor-like protein 7; Regulates vascular tubulogenesis in vivo. Inhibits platelet- derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis. 9606.ENSP00000360776,B4GALT5,388,"Beta-1,4-galactosyltransferase 5; Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (By similarity). Belongs to the glyco [...] " 9606.ENSP00000360777,INPP5E,644,"Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (By similarity). Specific for lipid substrates, inactive towards water soluble inositol phosphates. Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity); Belongs to the in [...] " 9606.ENSP00000360782,PMPCA,525,"Mitochondrial-processing peptidase subunit alpha; Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins." 9606.ENSP00000360793,KIF20B,1820,"Kinesin-like protein KIF20B; Plus-end-directed motor enzyme that is required for completion of cytokinesis. Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage [...] " 9606.ENSP00000360797,CARD9,536,"Caspase recruitment domain-containing protein 9; Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM-tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. Also involved in ac [...] " 9606.ENSP00000360798,EPS15,896,"Epidermal growth factor receptor substrate 15; Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internaliz [...] " 9606.ENSP00000360803,DNLZ,178,"DNL-type zinc finger protein; May function as a co-chaperone towards HSPA9/mortalin which, by itself, is prone to self-aggregation." 9606.ENSP00000360806,KCNB1,858,"Potassium voltage-gated channel subfamily B member 1; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain. Plays also a role in the regulation of exocytosis independently of its electrical function (By sim [...] " 9606.ENSP00000360811,LHX3,402,"LIM/homeobox protein Lhx3; Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene, and synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1." 9606.ENSP00000360817,ZNFX1,1918,Zinc finger NFX1-type containing 1. 9606.ENSP00000360821,UBAC1,405,Ubiquitin-associated domain-containing protein 1; Non-catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle. 9606.ENSP00000360822,KCNT1,1235,"Potassium channel subfamily T member 1; Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity). Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily." 9606.ENSP00000360824,C1orf185,199,Uncharacterized protein C1orf185; Chromosome 1 open reading frame 185. 9606.ENSP00000360829,GLT6D1,276,Glycosyltransferase 6 domain containing 1; Belongs to the glycosyltransferase 6 family. 9606.ENSP00000360850,MRPS2,296,"28S ribosomal protein S2, mitochondrial; Required for mitoribosome formation and stability, and mitochondrial translation; Belongs to the universal ribosomal protein uS2 family." 9606.ENSP00000360855,SLC16A12,516,Monocarboxylate transporter 12; Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane. 9606.ENSP00000360858,OLFM1,485,Noelin; Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1. Inhibits RTN4R-mediated axon growth cone collapse (By similarity). May play an important role in regulating the production of neural crest cells by the neural tube (By similarity). May be required for normal responses to olfactory stimuli (By similarity). 9606.ENSP00000360860,IFIT5,482,"Interferon-induced protein with tetratricopeptide repeats 5; Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments. Specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are [...] " 9606.ENSP00000360869,IFIT1,478,"Interferon-induced protein with tetratricopeptide repeats 1; Interferon-induced antiviral RNA-binding protein that specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs and inhibiting expression of viral messenger RNAs. Single-stranded PPP- RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'- triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non- [...] " 9606.ENSP00000360871,FCN1,326,"Ficolin-1; Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen- associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8. Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage." 9606.ENSP00000360874,IFIT1B,474,Interferon induced protein with tetratricopeptide repeats 1B. 9606.ENSP00000360876,IFIT3,490,"Interferon-induced protein with tetratricopeptide repeats 3; IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exihibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B [...] " 9606.ENSP00000360882,COL5A1,1838,"Collagen alpha-1(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin." 9606.ENSP00000360899,BEND5,421,BEN domain-containing protein 5; Acts as a transcriptional repressor. 9606.ENSP00000360905,AGBL4,503,"Cytosolic carboxypeptidase 6; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes polyglutamates from the carboxy-terminus of target proteins such as MYLK. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5." 9606.ENSP00000360913,SPATA6,488,Spermatogenesis-associated protein 6; Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits; Belongs to the SPATA6 family. 9606.ENSP00000360916,VAV2,878,Guanine nucleotide exchange factor VAV2; Guanine nucleotide exchange factor for the Rho family of Ras- related GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). 9606.ENSP00000360918,CH25H,272,"Cholesterol 25-hydroxylase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element [...] " 9606.ENSP00000360922,STAU1,577,"Double-stranded RNA-binding protein Staufen homolog 1; Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site." 9606.ENSP00000360938,SARDH,918,"Sarcosine dehydrogenase, mitochondrial; Sarcosine dehydrogenase; Belongs to the GcvT family." 9606.ENSP00000360939,CMPK1,228,UMP-CMP kinase; Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity. 9606.ENSP00000360944,STIL,1288,"SCL-interrupting locus protein; Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long- term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1. Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is es [...] " 9606.ENSP00000360958,CYP4A22,519,Cytochrome P450 4A22; Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. 9606.ENSP00000360961,CT83,113,Kita-kyushu lung cancer antigen 1; Cancer/testis antigen 83. 9606.ENSP00000360966,SLC2A6,507,"Solute carrier family 2, facilitated glucose transporter member 6; Probable sugar transporter that acts as a regulator of glycolysis in macrophages (Probable). Does not transport glucose." 9606.ENSP00000360968,CYP4X1,509,"Cytochrome P450 4X1; A cytochrome P450 monooxygenase that selectively catalyzes the epoxidation of the last double bond of the arachidonoyl moiety of anandamide, potentially modulating endocannabinoid signaling. Has no hydroxylase activity toward various fatty acids, steroids and prostaglandins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase)." 9606.ENSP00000360973,AGTR2,363,Type-2 angiotensin II receptor; Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation. 9606.ENSP00000360985,ARFGEF2,1785,Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma [...] 9606.ENSP00000360988,LUZP4,313,Leucine zipper protein 4; Export adapter involved in mRNA nuclear export in cancer cells. Binds and enhances the RNA-binding activity of the nuclear RNA export factor NXF1. Can restore mRNA export function in cells compromised by loss of mRNA export adapters. 9606.ENSP00000360991,CYP4B1,512,"Cytochrome P450 4B1; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics." 9606.ENSP00000360992,STAMBPL1,436,AMSH-like protease; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains; Belongs to the peptidase M67C family. 9606.ENSP00000360997,ADAMTS13,1427,A disintegrin and metalloproteinase with thrombospondin motifs 13; Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation. 9606.ENSP00000360998,ANKRD22,191,Ankyrin repeat domain 22. 9606.ENSP00000361001,EFCAB14,495,EF-hand calcium-binding domain-containing protein 14; EF-hand calcium binding domain 14. 9606.ENSP00000361004,IL13RA2,380,"Interleukin-13 receptor subunit alpha-2; Binds as a monomer with high affinity to interleukin-13 (IL13), but not to interleukin-4 (IL4)." 9606.ENSP00000361007,LIPJ,366,Lipase family member J; Belongs to the AB hydrolase superfamily. Lipase family. 9606.ENSP00000361009,PREX1,1659,"Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein; Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils." 9606.ENSP00000361010,REXO4,422,"REX4 homolog, 3'-5' exonuclease." 9606.ENSP00000361021,PTEN,403,"Phosphatase and tensin homolog; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4- diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5- tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumor [...] " 9606.ENSP00000361025,STKLD1,680,Serine/threonine kinase-like domain-containing protein STKLD1; Serine/threonine kinase like domain containing 1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. 9606.ENSP00000361027,AMOT,1084,"Angiomotin; Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions; Belongs to the angiomotin family." 9606.ENSP00000361032,SURF2,256,Surfeit 2; Belongs to the SURF2 family. 9606.ENSP00000361036,LHFPL1,220,LHFPL tetraspan subfamily member 1. 9606.ENSP00000361042,SURF1,300,"Surfeit locus protein 1; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly." 9606.ENSP00000361043,RAD54L,747,DNA repair and recombination protein RAD54-like; Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells. 9606.ENSP00000361048,LURAP1,239,"Leucine rich adaptor protein 1; Acts as an activator of the canonical NF-kappa-B pathway and drive the production of proinflammatory cytokines. Promotes the antigen (Ag)-presenting and priming function of dendritic cells via the canonical NF-kappa-B pathway. In concert with MYO18A and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Activates CDC42BPA/CDC42BPB and targets it to actomyosin through its interaction with MYO18A, leading to MYL9/MLC2 phosphorylation and MYH9/MYH10-dependent actomyosin assembly [...] " 9606.ENSP00000361057,SURF4,269,Surfeit locus protein 4; May play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi. Belongs to the SURF4 family. 9606.ENSP00000361060,POMGNT1,748,"Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins. Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha- dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity." 9606.ENSP00000361064,MINPP1,487,"Multiple inositol polyphosphate phosphatase 1; Acts as a phosphoinositide 5- and phosphoinositide 6- phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3- bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3-phosphoglycerate. May play a role in bone development (endochondral ossification). May play a role in the transition of chondrocytes from proliferation to hypertrophy (By similarity); Belongs [...] " 9606.ENSP00000361066,NCOA3,1424,"Nuclear receptor coactivator 3; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone- dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via [...] " 9606.ENSP00000361072,TSPAN1,241,Tetraspanin-1; Tetraspanin 1. 9606.ENSP00000361076,RPL7A,266,Ribosomal protein L7a. 9606.ENSP00000361083,ADIRF,76,Adipogenesis regulatory factor; Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin. 9606.ENSP00000361084,MRPL14,145,"39S ribosomal protein L14, mitochondrial; Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation (Probable)." 9606.ENSP00000361087,SNCG,127,"Gamma-synuclein; Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity); Belongs to the synuclein family." 9606.ENSP00000361092,SURF6,361,"Surfeit locus protein 6; Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly (By similarity)." 9606.ENSP00000361095,TMEM69,247,Transmembrane protein 69. 9606.ENSP00000361097,MMRN2,949,Multimerin-2; Inhibits endothelial cells motility and acts as a negative regulator of angiogenesis; it downregulates KDR activation by binding VEGFA. 9606.ENSP00000361107,BMPR1A,532,"Bone morphogenetic protein receptor type-1A; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily." 9606.ENSP00000361110,GBGT1,347,"Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1; Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens." 9606.ENSP00000361112,CHRDL1,458,Chordin-like protein 1; Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior s [...] 9606.ENSP00000361120,RALGDS,914,"Ral guanine nucleotide dissociation stimulator; Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap." 9606.ENSP00000361138,TMEM164,297,Transmembrane protein 164; Belongs to the TMEM164 family. 9606.ENSP00000361140,AKR1A1,325,"Aldo-keto reductase family 1 member A1; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosaccharides and bile acids, with a preference for negatively charged substrates, such as glucuronate and succinic semialdehyde. Functions as a detoxifiying enzyme by reducing a range of toxic aldehydes. Reduces methylglyoxal and 3-deoxyglucosone, which are present at elevated levels under hyperglycemic conditions [...] " 9606.ENSP00000361141,OPN4,489,Melanopsin; Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all-trans retinal back to 11-cis retinal (By similarity); Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. 9606.ENSP00000361158,TESK2,571,Dual specificity testis-specific protein kinase 2; Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser- 3'. May play an important role in spermatogenesis. 9606.ENSP00000361160,CCSER2,1047,Serine-rich coiled-coil domain-containing protein 2; Microtubule-binding protein which might play a role in microtubule bundling. 9606.ENSP00000361162,TOE1,510,Target of EGR1 protein 1; Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing. 9606.ENSP00000361173,KCNE5,142,Potassium voltage-gated channel subfamily E regulatory beta subunit 5; Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta- subunit of the repolarizing cardiac potassium ion channel KCNQ1. 9606.ENSP00000361177,LRIT1,623,"Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1; Possible role in phototransduction." 9606.ENSP00000361180,GTF3C5,526,"General transcription factor 3C polypeptide 5; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters." 9606.ENSP00000361186,TP53RK,253,EKC/KEOPS complex subunit TP53RK; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity). Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may t [...] 9606.ENSP00000361199,C10orf99,81,Protein GPR15L; Chemotactic factor that mediates lymphocytes recruitment to epithelia through binding and activation of the G-protein coupled receptor GPR15. May be a tumor suppressor; together with SUSD2 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest. 9606.ENSP00000361202,IRS4,1257,"Insulin receptor substrate 4; Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin- stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kin [...] " 9606.ENSP00000361206,MRPS18A,196,Mitochondrial ribosomal protein S18A; Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mL66 subfamily. 9606.ENSP00000361207,GHITM,345,Growth hormone-inducible transmembrane protein; Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c. 9606.ENSP00000361209,SPACA9,222,Sperm acrosome associated 9. 9606.ENSP00000361214,NRG3,696,"Pro-neuregulin-3, membrane-bound isoform; Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes. Belongs to the neuregulin family." 9606.ENSP00000361219,GTF3C4,822,"General transcription factor 3C polypeptide 4; Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus- associated (VA) RNA of both cellular and viral origin. Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3. May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F. May be localized close to the A box; Belongs to the TFIIIC subunit 4 family." 9606.ENSP00000361231,TSPAN14,270,Tetraspanin-14; Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Negatively regulates ADAM10-mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity). 9606.ENSP00000361232,DDX31,851,Probable ATP-dependent RNA helicase DDX31; Probable ATP-dependent RNA helicase (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 ; Belongs to the DEAD box helicase family. DDX31/DBP7 subfamily. 9606.ENSP00000361238,RSPH9,306,"Radial spoke head protein 9 homolog; Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules." 9606.ENSP00000361245,HECTD3,861,"E3 ubiquitin-protein ligase HECTD3; E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of TRIOBP and its subsequent proteasomal degradation, thus facilitating cell cycle progression by regulating the turn-over of TRIOBP. Mediates also ubiquitination of STX8 (By similarity)." 9606.ENSP00000361264,RAPGEF1,1095,Rap guanine nucleotide exchange factor 1; Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth. 9606.ENSP00000361266,PTCH2,1203,Protein patched homolog 2; Plays a role in the control of cellular growth. May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH); Belongs to the patched family. 9606.ENSP00000361272,DYDC2,191,DPY30 domain containing 2; Belongs to the dpy-30 family. 9606.ENSP00000361275,PLK3,646,"Serine/threonine-protein kinase PLK3; Serine/threonine-protein kinase involved in cell cycle regulation, response to stress and Golgi disassembly. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates ATF2, BCL2L1, CDC25A, CDC25C, CHEK2, HIF1A, JUN, p53/TP53, p73/TP73, PTEN, TOP2A and VRK1. Involved in cell cycle regulation: required for entry into S phase and cytokinesis. Phosphorylates BCL2L1, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosi [...] " 9606.ENSP00000361278,DYDC1,177,DPY30 domain-containing protein 1; Plays a crucial role during acrosome biogenesis. 9606.ENSP00000361281,BEST4,473,Bestrophin-4; Forms calcium-sensitive chloride channels. Permeable to bicarbonate. 9606.ENSP00000361285,UCK1,282,"Uridine-cytidine kinase 1; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6- azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)- acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine; Belongs to the uridine kinase family." 9606.ENSP00000361287,MAT1A,395,"S-adenosylmethionine synthase isoform type-1; Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate." 9606.ENSP00000361298,KIF2C,725,"Kinesin-like protein KIF2C; In complex with KIF18B, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Regulates the turnover of microtubules at the kinetochore and functions in chromosome segregation during mitosis. Plays a role in chromosome congression and is required for the lateral to end- on conversion of the chromosome-microtubule attachment ; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily." 9606.ENSP00000361302,POMT1,747,"Protein O-mannosyl-transferase 1; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Essentially dedicated to O-mannosylation of alpha- DAG1 and few other proteins but not of cadherins and protocaherins ; Belongs to the glycosyltransferase 39 family." 9606.ENSP00000361306,ATG4A,398,"Cysteine protease ATG4A; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Preferred substrate is GABARAPL2 followed by MAP1LC3A and GABARAP. Has also an activity of delipidating enzyme for the PE-conjugated forms." 9606.ENSP00000361310,POLH,713,"DNA polymerase eta; DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine. Particularly important for the repair of UV-induced pyrimidine dimers. Although inserts the correct [...] " 9606.ENSP00000361311,TMEM53,277,Transmembrane protein 53; Belongs to the TMEM53 family. 9606.ENSP00000361331,ERI3,337,ERI1 exoribonuclease family member 3. 9606.ENSP00000361337,PLAC9,97,Placenta-specific protein 9; Placenta associated 9; Belongs to the PLAC9 family. 9606.ENSP00000361338,PLPP7,271,"Inactive phospholipid phosphatase 7; Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity)." 9606.ENSP00000361345,FAM78A,283,Protein FAM78A; Family with sequence similarity 78 member A; Belongs to the FAM78 family. 9606.ENSP00000361355,TMEM254,123,Transmembrane protein 254. 9606.ENSP00000361359,CD40,277,"Tumor necrosis factor receptor superfamily member 5; Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity)." 9606.ENSP00000361363,DMAP1,467,DNA methyltransferase 1-associated protein 1; Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following replication of DNA at late firing origins. Can also repress transcription independently of histone deacetylase activity. May specifically potentiate DAXX-mediated repression of glucocorticoid receptor-dependent transcription. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucle [...] 9606.ENSP00000361366,SFTPD,375,"Pulmonary surfactant-associated protein D; Contributes to the lung's defense against inhaled microorganisms, organic antigens and toxins. Interacts with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte action in immune response. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha- glucosyl moieties." 9606.ENSP00000361373,KLF17,389,"Krueppel-like factor 17; Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5'-CACCC-3' sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development (By similarity)." 9606.ENSP00000361383,AIF1L,176,Allograft inflammatory factor 1-like; Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function. 9606.ENSP00000361392,CCDC24,307,Coiled-coil domain containing 24. 9606.ENSP00000361397,NUTM2G,741,NUT family member 2G. 9606.ENSP00000361400,SFTPA2,248,Surfactant protein A2. 9606.ENSP00000361405,MMP9,707,67 kDa matrix metalloproteinase-9; May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide. Belongs to the peptidase M10A family. 9606.ENSP00000361411,ZCCHC24,241,Zinc finger CCHC-type containing 24. 9606.ENSP00000361413,FIBCD1,461,"Fibrinogen C domain-containing protein 1; Acetyl group-binding receptor which shows a high-affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non- acetylated counterparts. Can facilitate the endocytosis of acetylated components." 9606.ENSP00000361418,IPO13,963,"Importin-13; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] " 9606.ENSP00000361423,ABL1,1149,"Tyrosine-protein kinase ABL1; Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-bindin [...] " 9606.ENSP00000361433,EXOSC2,293,"Exosome complex component RRP4; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytop [...] " 9606.ENSP00000361446,POLR3A,1390,"DNA-directed RNA polymerase III subunit RPC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single- stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to pro [...] " 9606.ENSP00000361458,TSC22D3,200,"TSC22 domain family protein 3; Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11. In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10. In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro, suppresses AP1 and NFKB1 DNA-binding activities (By similarity). Isoform 1 inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulati [...] " 9606.ENSP00000361467,DLG5,1919,"Disks large homolog 5; Acts as a regulator of the Hippo signaling pathway. Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1. Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transit [...] " 9606.ENSP00000361471,ASS1,412,"Argininosuccinate synthase; One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues; Belongs to the argininosuccinate synthase family. Type 1 subfamily." 9606.ENSP00000361473,KDM4A,1064,"Lysine-specific demethylase 4A; Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys- 4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. Participates in transcriptional repression of ASCL2 and E2F-responsive promoters via the recruitment of histone deacetylases and NCOR1, respectively." 9606.ENSP00000361475,NCS1,190,"Neuronal calcium sensor 1; Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage- gated calcium channel (By similarity); Belongs to the recoverin family." 9606.ENSP00000361483,GPR107,600,"Protein GPR107; Has been proposed to act as a receptor for neuronostatin, a peptide derived from the somatostatin/SST precursor. Involved in blood sugar regulation through the induction of glucagon in response to low glucose (By similarity)." 9606.ENSP00000361486,PCIF1,704,"mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase; Cap-specific adenosine methyltransferase that catalyzes formation of N(6),2'-O-dimethyladenosine cap (m6A(m)) by methylating the adenosine at the second transcribed position of capped mRNAs. Recruited to the early elongation complex of RNA polymerase II (RNAPII) via interaction with POLR2A and mediates formation of m6A(m) co- transcriptionally." 9606.ENSP00000361499,YIPF3,350,"Protein YIPF3, 36 kDa form III; Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis." 9606.ENSP00000361511,HYI,302,Putative hydroxypyruvate isomerase; Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde). 9606.ENSP00000361512,PRPS1,318,Ribose-phosphate pyrophosphokinase 1; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family. 9606.ENSP00000361518,LRRC73,316,Leucine-rich repeat-containing protein 73; Leucine rich repeat containing 73. 9606.ENSP00000361522,TJAP1,557,Tight junction associated protein 1. 9606.ENSP00000361524,C9orf78,289,Telomere length and silencing protein 1 homolog; Involved in the regulation of telomeric heterochromatin assembly and control of telomere length. Belongs to the TLS1 family. 9606.ENSP00000361540,CDC20,499,Cell division cycle protein 20 homolog; Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentia [...] 9606.ENSP00000361544,NUP62CL,184,Nucleoporin-62 C-terminal-like protein; Nucleoporin 62 C-terminal like; Belongs to the nucleoporin NSP1/NUP62 family. 9606.ENSP00000361547,PRRX2,253,Paired mesoderm homeobox protein 2; May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development. Belongs to the paired homeobox family. 9606.ENSP00000361548,MPL,635,Thrombopoietin receptor; Receptor for thrombopoietin that acts as a primary regulator of megakaryopoiesis and platelet production. May represent a regulatory molecule specific for TPO-R-dependent immune responses. Belongs to the type I cytokine receptor family. Type 1 subfamily. 9606.ENSP00000361554,TIE1,1138,Tyrosine-protein kinase receptor Tie-1; Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis. 9606.ENSP00000361556,C9orf50,431,Uncharacterized protein C9orf50; Chromosome 9 open reading frame 50. 9606.ENSP00000361557,RBM41,413,RNA-binding protein 41; May bind RNA. 9606.ENSP00000361562,CTSA,498,"Lysosomal protective protein 20 kDa chain; Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins." 9606.ENSP00000361569,IER5L,404,Immediate early response 5 like. 9606.ENSP00000361580,ZNF691,315,Zinc finger protein 691; May be involved in transcriptional regulation. 9606.ENSP00000361595,ERMAP,475,Erythroid membrane-associated protein; Possible role as a cell-adhesion or receptor molecule of erythroid cells; Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000361596,NEURL2,285,"Neuralized-like protein 2; Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity)." 9606.ENSP00000361597,SPATA25,227,Spermatogenesis-associated protein 25; May play a role in spermatogenesis. Belongs to the SPATA25 family. 9606.ENSP00000361599,SVBP,66,"Small vasohibin-binding protein; Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin. This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtuble detyronisation regulates mitotic spindle length and postioning. Also required to enhance the solubility and secretion of VASH1 and VASH2. Plays a role in axon and excitatory synapse formation. Belongs to the SVBP family." 9606.ENSP00000361601,ZSWIM1,485,Zinc finger SWIM-type containing 1. 9606.ENSP00000361602,ZNF503,646,Zinc finger protein 503; May function as a transcriptional repressor. 9606.ENSP00000361603,C1orf50,199,Uncharacterized protein C1orf50; Chromosome 1 open reading frame 50. 9606.ENSP00000361608,ABCC10,1492,Multidrug resistance-associated protein 7; ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion. 9606.ENSP00000361616,COMTD1,262,Catechol O-methyltransferase domain-containing protein 1; Putative O-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family. 9606.ENSP00000361625,DOLPP1,238,Dolichyldiphosphatase 1; Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity). 9606.ENSP00000361626,YBX1,324,"Y-box-binding protein 1; DNA- and RNA-binding protein involved in various processes, such as translational repression, RNA stabilization, mRNA splicing, DNA repair and transcription regulation. Predominantly acts as a RNA-binding protein: binds preferentially to the 5'-[CU]CUGCG-3' RNA motif and specifically recognizes mRNA transcripts modified by C5-methylcytosine (m5C). Promotes mRNA stabilization: acts by binding to m5C- containing mRNAs and recruiting the mRNA stability maintainer ELAVL1, thereby preventing mRNA decay. Component of the CRD-mediated complex that promotes MYC mRNA st [...] " 9606.ENSP00000361628,RADX,855,RPA-related protein RADX; Single-stranded DNA-binding protein recruited to replication forks to maintain genome stability. Prevents fork collapse by antagonizing the accumulation of RAD51 at forks to ensure the proper balance of fork remodeling and protection without interfering with the capacity of cells to complete homologous recombination of double-strand breaks. 9606.ENSP00000361634,SH3GLB2,404,"Endophilin-B2; SH3 domain containing GRB2 like, endophilin B2." 9606.ENSP00000361635,VDAC2,309,Voltage-dependent anion-selective channel protein 2; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective; Belongs to the eukaryotic mitochondrial porin family. 9606.ENSP00000361636,TNNC2,160,"Troponin C, skeletal muscle; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments." 9606.ENSP00000361642,PPCS,311,"Phosphopantothenate--cysteine ligase; Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine. Has a preference for ATP over CTP as a cosubstrate." 9606.ENSP00000361646,ZMYND12,365,Zinc finger MYND-type containing 12. 9606.ENSP00000361650,CRIP3,204,Cysteine rich protein 3. 9606.ENSP00000361653,FOXJ3,622,Forkhead box protein J3; Transcriptional activator of MEF2C involved in the regulation pf adult muscle fiber type identity and skeletal muscle regeneration. 9606.ENSP00000361658,NUP188,1749,Nucleoporin NUP188 homolog; May function as a component of the nuclear pore complex (NPC). 9606.ENSP00000361662,GUCA2B,112,Guanylate cyclase C-activating peptide 2; Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. May be a potent physiological regulator of intestinal fluid and electrolyte transport. May be an autocrine/paracrine regulator of intestinal salt and water transport. 9606.ENSP00000361663,IL1RAPL2,686,Interleukin 1 receptor accessory protein like 2; Belongs to the interleukin-1 receptor family. 9606.ENSP00000361664,HIVEP3,2406,"Transcription factor HIVEP3; Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation pro [...] " 9606.ENSP00000361666,SLC22A7,548,"Solute carrier family 22 member 7; Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha- ketoglutarate." 9606.ENSP00000361667,DOLK,538,Dolichol kinase; Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors. 9606.ENSP00000361668,EDN2,178,Endothelin-2; Endothelins are endothelium-derived vasoconstrictor peptides. 9606.ENSP00000361669,ESX1,406,Homeobox protein ESX1-C; May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover. 9606.ENSP00000361700,GLRA4,417,Glycine receptor alpha 4. 9606.ENSP00000361705,DNTTIP1,329,"Deoxynucleotidyltransferase terminal-interacting protein 1; Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro). Also acts as a transcriptional regulator, binding to the consensus sequence 5'-GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA." 9606.ENSP00000361708,TCEAL1,159,"Transcription elongation factor A protein-like 1; May be involved in transcriptional regulation. Modulates various viral and cellular promoters in a promoter context-dependent manner. For example, transcription from the FOS promoter is increased, while Rous sarcoma virus (RSV) long terminal repeat (LTR) promoter activity is repressed. Does not bind DNA directly." 9606.ENSP00000361711,TCEAL3,200,Transcription elongation factor A protein-like 3; May be involved in transcriptional regulation; Belongs to the TFS-II family. TFA subfamily. 9606.ENSP00000361712,TCEAL4,358,Transcription elongation factor A protein-like 4; May be involved in transcriptional regulation. 9606.ENSP00000361716,RAB40A,277,Ras-related protein Rab-40A; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000361721,CITED4,184,"Cbp/p300-interacting transactivator 4; Acts as transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells. Belongs to the CITED family." 9606.ENSP00000361725,ENDOG,297,"Endonuclease G, mitochondrial; Cleaves DNA at double-stranded (DG)n.(DC)n and at single- stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity); Belongs to the DNA/RNA non-specific endonuclease family." 9606.ENSP00000361726,WFDC10A,79,WAP four-disulfide core domain 10A. 9606.ENSP00000361728,BEX3,111,Protein BEX3; May be a signaling adapter molecule involved in p75NTR- mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases. 9606.ENSP00000361731,TBC1D13,400,TBC1 domain family member 13; Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes. 9606.ENSP00000361735,WFDC8,241,WAP four-disulfide core domain 8. 9606.ENSP00000361746,EPPIN,133,"Eppin; Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility." 9606.ENSP00000361748,ZDHHC12,267,Probable palmitoyltransferase ZDHHC12; Zinc finger DHHC-type palmitoyltransferase 12. 9606.ENSP00000361755,WFDC6,86,WAP four-disulfide core domain 6. 9606.ENSP00000361761,WFDC2,124,WAP four-disulfide core domain protein 2; Broad range protease inhibitor. 9606.ENSP00000361765,TCEAL5,206,Transcription elongation factor A protein-like 5; May be involved in transcriptional regulation. 9606.ENSP00000361769,RIMS3,308,Regulating synaptic membrane exocytosis protein 3; Regulates synaptic membrane exocytosis. 9606.ENSP00000361770,TCEAL8,117,Transcription elongation factor A protein-like 8; May be involved in transcriptional regulation; Belongs to the TFS-II family. TFA subfamily. 9606.ENSP00000361777,SET,290,"Protein SET; Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF- mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysi [...] " 9606.ENSP00000361780,BEX4,120,Protein BEX4; May play a role in microtubule deacetylation by negatively regulating the SIRT2 deacetylase activity toward alpha-tubulin and thereby participate to the control of cell cycle progression and genomic stability. 9606.ENSP00000361788,EXO5,373,Exonuclease V; Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5'-3' and 3'-5' exonuclease activities with a strong preference for 5'-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3'-5' exonuclease activities are abolished upon binding to the replication protein A (RPA) complex that enforces 5'- directionality activity. 9606.ENSP00000361791,ZFP69,526,Zinc finger protein 69 homolog; Putative transcription factor that appears to regulate lipid metabolism; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000361795,DBNDD2,263,Dysbindin domain-containing protein 2; May modulate the activity of casein kinase-1. Inhibits CSNK1D autophosphorylation (in vitro); Belongs to the dysbindin family. 9606.ENSP00000361800,WDR34,536,"WD repeat-containing protein 34; Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL- 1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation." 9606.ENSP00000361803,SMAP2,429,Stromal membrane-associated protein 2; GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity). 9606.ENSP00000361811,TP53TG5,290,TP53-target gene 5 protein; May play a significant role in p53/TP53-mediating signaling pathway. 9606.ENSP00000361813,BEX1,125,"Protein BEX1; Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states (By similarity)." 9606.ENSP00000361818,SDC4,198,Syndecan-4; Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP. 9606.ENSP00000361834,COL9A2,689,Collagen alpha-2(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. 9606.ENSP00000361842,MATN4,581,Matrilin-4; Major component of the extracellular matrix of cartilage. 9606.ENSP00000361845,ZMPSTE24,475,CAAX prenyl protease 1 homolog; Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C. 9606.ENSP00000361850,PLAU,431,Urokinase-type plasminogen activator short chain A; Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin. 9606.ENSP00000361852,TMCO2,182,Transmembrane and coiled-coil domains 2. 9606.ENSP00000361855,SEMG2,582,Semenogelin-2; Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa. 9606.ENSP00000361857,RLF,1914,Zinc finger protein Rlf; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000361860,TCEAL6,183,Transcription elongation factor A like 6. 9606.ENSP00000361866,TCEAL2,227,Transcription elongation factor A protein-like 2; May be involved in transcriptional regulation; Belongs to the TFS-II family. TFA subfamily. 9606.ENSP00000361867,SEMG1,462,Seminal basic protein; Predominant protein in semen. It participates in the formation of a gel matrix entrapping the accessory gland secretions and ejaculated spermatozoa. Fragments of semenogelin and/or fragments of the related proteins may contribute to the activation of progressive sperm movements as the gel-forming proteins are fragmented by KLK3/PSA. 9606.ENSP00000361868,ZMAT1,638,Zinc finger matrin-type 1. 9606.ENSP00000361871,WFDC12,111,WAP four-disulfide core domain protein 12; Antibacterial protein. Putative acid-stable proteinase inhibitor. 9606.ENSP00000361875,WFDC5,123,WAP four-disulfide core domain protein 5; Putative acid-stable proteinase inhibitor. 9606.ENSP00000361883,CAP1,475,"Adenylyl cyclase-associated protein 1; Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity; Belongs to the CAP family." 9606.ENSP00000361892,STK4,487,"Serine/threonine-protein kinase 4 18kDa subunit; Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regul [...] " 9606.ENSP00000361894,GNMT,295,Glycine N-methyltransferase; Catalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine. 9606.ENSP00000361895,MFSD2A,543,"Sodium-dependent lysophosphatidylcholine symporter 1; Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain. Transports LPC carrying long-chain fa [...] " 9606.ENSP00000361900,TOMM34,309,"Mitochondrial import receptor subunit TOM34; Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state." 9606.ENSP00000361914,OXCT2,517,"Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity). Belongs to the 3-oxoacid CoA-transferase family." 9606.ENSP00000361915,BMP8B,402,Bone morphogenetic protein 8B; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity); Belongs to the TGF-beta family. 9606.ENSP00000361917,ARMCX1,453,Armadillo repeat-containing X-linked protein 1; Regulates mitochondrial transport during axon regeneration. Increases the proportion of motile mitochondria by recruiting stationary mitochondria into the motile pool. Enhances mitochondria movement and neurite growth in both adult axons and embryonic neurons. Promotes neuronal survival and axon regeneration after nerve injury. May link mitochondria to the Trak1-kinesin motor complex via its interaction with MIRO1. 9606.ENSP00000361918,PPIE,314,"Peptidyl-prolyl cis-trans isomerase E; Involved in pre-mRNA splicing as component of the spliceosome. Combines RNA-binding and PPIase activities. Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3'-UTR of mRNA molecules. Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins. Inhibits KMT2A activity; this requires proline isomerase activity." 9606.ENSP00000361923,CHCHD1,118,Coiled-coil-helix-coiled-coil-helix domain containing 1. 9606.ENSP00000361926,CNPY3,278,"Protein canopy homolog 3; Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity). Belongs to the canopy family." 9606.ENSP00000361927,HNRNPH2,449,"Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG)." 9606.ENSP00000361929,CERCAM,595,Inactive glycosyltransferase 25 family member 3; Probable cell adhesion protein involved in leukocyte transmigration across the blood-brain barrier. Does not express any beta-galactosyltransferase activity in vitro. 9606.ENSP00000361930,YWHAB,246,"14-3-3 protein beta/alpha, N-terminally processed; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by [...] " 9606.ENSP00000361932,FUT11,492,"Alpha-(1,3)-fucosyltransferase 11; Probable fucosyltransferase." 9606.ENSP00000361943,HEYL,328,Hairy/enhancer-of-split related with YRPW motif-like protein; Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6. 9606.ENSP00000361949,PABPC4,660,Polyadenylate-binding protein 4; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity). 9606.ENSP00000361952,KCNK15,330,Potassium channel subfamily K member 15; Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel. 9606.ENSP00000361959,CCN5,250,"CCN family member 5; May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production; Belongs to the CCN family." 9606.ENSP00000361965,ADA,363,"Adenosine deaminase; Catalyzes the hydrolytic deamination of adenosine and 2- deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion. Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T [...] " 9606.ENSP00000361967,TBCC,346,Tubulin-specific chaperone C; Tubulin-folding protein; involved in the final step of the tubulin folding pathway; Belongs to the TBCC family. 9606.ENSP00000361980,PKIG,76,"cAMP-dependent protein kinase inhibitor gamma; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains; Belongs to the PKI family." 9606.ENSP00000361982,TRUB2,331,"Mitochondrial mRNA pseudouridine synthase TRUB2; Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt- mRNAs) such as COXI and COXIII mt-mRNAs. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation." 9606.ENSP00000361990,UBR2,1755,"E3 ubiquitin-protein ligase UBR2; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. Required for spermatogenesis, promotes, w [...] " 9606.ENSP00000361993,TIMM8A,97,Mitochondrial import inner membrane translocase subunit Tim8 A; Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8- TIMM13 complex mediates the import of proteins [...] 9606.ENSP00000361995,TTPAL,342,Alpha-tocopherol transfer protein-like; May act as a protein that binds a hydrophobic ligand. 9606.ENSP00000361998,TAF7L,462,"Transcription initiation factor TFIID subunit 7-like; Probably functions as a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis (By similarity)." 9606.ENSP00000362010,ANXA7,488,Annexin A7; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis; Belongs to the annexin family. 9606.ENSP00000362014,DNM1,864,Dynamin-1; Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis. 9606.ENSP00000362018,CENPI,756,"Centromere protein I; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Required for the localization of CENPF, MAD1L1 and MAD2 (MAD2L1 or MAD2L2) to kinetochores. Involved in the response of gonadal tissues to follicle- stimulating hormone; Belongs to the CENP-I/CTF3 family." 9606.ENSP00000362021,TMEM35A,167,Transmembrane protein 35A; A soluble peptide released by shedding may interact with NGFR and modulate neurite outgrowth. 9606.ENSP00000362027,TRMT2B,504,tRNA (uracil(54)-C(5))-methyltransferase homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity); Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family. 9606.ENSP00000362036,MRPS16,137,Mitochondrial ribosomal protein S16; Belongs to the bacterial ribosomal protein bS16 family. 9606.ENSP00000362041,DNAJC9,260,"DnaJ homolog subfamily C member 9; May play a role as co-chaperone of the Hsp70 family proteins HSPA1A, HSPA1B and HSPA8." 9606.ENSP00000362047,XKRX,449,XK-related protein 2; XK related X-linked. 9606.ENSP00000362049,GUCA1A-2,201,Guanylate cyclase activator 1A. 9606.ENSP00000362054,LOC114841037,127,Guanylyl cyclase-activating protein 1. 9606.ENSP00000362057,NOX1,564,"NADPH oxidase 1; NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain." 9606.ENSP00000362058,NDUFS5,106,"NADH dehydrogenase [ubiquinone] iron-sulfur protein 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000362068,TAF8,310,"Transcription initiation factor TFIID subunit 8; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. Mediates both basal and activator-dependent transcription. Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts. Required for the integration of TAF10 in the TAF complex. May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity). Be [...] " 9606.ENSP00000362071,JPH2,696,Junctophilin-2 N-terminal fragment; [Junctophilin-2]: Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes. Provides a structural foundation for functional cross-talk between the cell surface and intracellular Ca(2+) release channels by maintaining the 12-15 nm gap between the sarcolemma and the sarcoplasmic reticulum membranes in the cardiac dyads (By similarity). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its in [...] 9606.ENSP00000362080,SYTL4,671,Synaptotagmin-like protein 4; Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively charged phospholipids in a Ca(2+)-independent manner (By similarity). 9606.ENSP00000362082,CCND3,292,G1/S-specific cyclin-D3; Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...] 9606.ENSP00000362085,C9orf16,83,UPF0184 protein C9orf16; Chromosome 9 open reading frame 16. 9606.ENSP00000362092,RRAGC,399,Ras-related GTP-binding protein C; Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids. 9606.ENSP00000362094,GTSF1L,148,Gametocyte-specific factor 1-like; Gametocyte specific factor 1 like. 9606.ENSP00000362095,SRPX2,465,"Sushi repeat-containing protein SRPX2; Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development." 9606.ENSP00000362103,POU3F1,451,"POU domain, class 3, transcription factor 1; Transcription factor that binds to the octamer motif (5'- ATTTGCAT-3'). Thought to be involved in early embryogenesis and neurogenesis." 9606.ENSP00000362105,UTP11,253,Probable U3 small nucleolar RNA-associated protein 11; Involved in nucleolar processing of pre-18S ribosomal RNA. 9606.ENSP00000362107,FHL3,280,Four and a half LIM domains protein 3; Recruited by SOX15 to FOXK1 promoters where it acts as a transcriptional coactivator of FOXK1. 9606.ENSP00000362108,LCN2,198,"Neutrophil gelatinase-associated lipocalin; Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development. Binds iron through association with 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association of [...] " 9606.ENSP00000362109,FRS3,492,Fibroblast growth factor receptor substrate 3; Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2. 9606.ENSP00000362110,SF3A3,501,"Splicing factor 3A subunit 3; Involved in pre-mRNA splicing as a component of the splicing factor SF3A complex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre-catalytic spliceosome 'A' complex. Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes." 9606.ENSP00000362111,TSPAN6,245,Tetraspanin-6; Tetraspanin 6. 9606.ENSP00000362115,INPP5B,913,"Type II inositol 1,4,5-trisphosphate 5-phosphatase; Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5- trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events." 9606.ENSP00000362116,PGC,388,Gastricsin; Hydrolyzes a variety of proteins; Belongs to the peptidase A1 family. 9606.ENSP00000362121,IFT52,437,"Intraflagellar transport protein 52 homolog; Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Required for the anterograde transport of IFT88." 9606.ENSP00000362122,TNMD,317,Tenomodulin; May be an angiogenesis inhibitor. 9606.ENSP00000362123,PLA2G12B,195,Group XIIB secretory phospholipase A2-like protein; Not known; does not seem to have catalytic activity. 9606.ENSP00000362125,PCDH19,1148,Protocadherin-19; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000362127,MTF1,753,Metal regulatory transcription factor 1; Activates the metallothionein I promoter. Binds to the metal responsive element (MRE). 9606.ENSP00000362131,RPA4,261,"Replication protein A 30 kDa subunit; As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange." 9606.ENSP00000362133,C1orf122,110,Uncharacterized protein C1orf122; Chromosome 1 open reading frame 122. 9606.ENSP00000362135,YRDC,279,"YrdC domain-containing protein, mitochondrial; May regulate the activity of some transporters. Belongs to the SUA5 family." 9606.ENSP00000362136,MANEAL,457,"Glycoprotein endo-alpha-1,2-mannosidase-like protein; Mannosidase endo-alpha like; Belongs to the glycosyl hydrolase 99 family." 9606.ENSP00000362139,EPHA10,1008,"Ephrin type-A receptor 10; Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5; Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily." 9606.ENSP00000362144,MCU,351,"Calcium uniporter protein, mitochondrial; Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria. Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffe [...] " 9606.ENSP00000362146,CDCA8,280,"Borealin; Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment-error-correction and chromosome alignment." 9606.ENSP00000362151,FOXP4,680,Forkhead box protein P4; Transcriptional repressor that represses lung-specific expression. 9606.ENSP00000362153,GNL2,731,"Nucleolar GTP-binding protein 2; GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation (By similarity). May promote cell proliferation possibly by increasing p53/TP53 protein levels, and consequently those of its downstream product CDKN1A/p21, and decreasing RPL23A protein levels." 9606.ENSP00000362160,SLC25A25,515,"Calcium-binding mitochondrial carrier protein SCaMC-2; Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria." 9606.ENSP00000362166,MEAF6,201,"Chromatin modification-related protein MEAF6; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vi [...] " 9606.ENSP00000362170,NAIF1,327,Nuclear apoptosis-inducing factor 1; Induces apoptosis; Belongs to the NAIF1 family. 9606.ENSP00000362171,NAP1L3,506,Nucleosome assembly protein 1 like 3. 9606.ENSP00000362179,ZC3H12A,599,"Endoribonuclease ZC3H12A; Endoribonuclease involved in various biological functions such as cellular inflammatory response and immune homeostasis, glial differentiation of neuroprogenitor cells, cell death of cardiomyocytes, adipogenesis and angiogenesis. Functions as an endoribonuclease involved in mRNA decay. Modulates the inflammatory response by promoting the degradation of a set of translationally active cytokine-induced inflammation-related mRNAs, such as IL6 and IL12B, during the early phase of inflammation. Prevents aberrant T-cell-mediated immune reaction by degradation of mul [...] " 9606.ENSP00000362181,NCR2,276,Natural cytotoxicity triggering receptor 2; Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis. 9606.ENSP00000362183,GRIK3,919,"Glutamate receptor ionotropic, kainate 3; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA." 9606.ENSP00000362186,PCDH11X,1347,Protocadherin-11 X-linked; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000362187,FAM102A,384,Protein FAM102A; May play a role in estrogen action. Belongs to the FAM102 family. 9606.ENSP00000362195,CSF3R,863,"Granulocyte colony-stimulating factor receptor; Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface." 9606.ENSP00000362205,TREM2,230,"Triggering receptor expressed on myeloid cells 2; Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding. Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia. Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro- inflammatory cytokines, such as IL6R and CCL3, and the anti- inflammatory cytokine ARG1 (By similarity). Acts as a receptor for lipoprotein pa [...] " 9606.ENSP00000362206,KLHL4,720,Kelch-like protein 4; Kelch like family member 4. 9606.ENSP00000362207,CHST3,479,"Carbohydrate sulfotransferase 3; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of [...] " 9606.ENSP00000362208,MRPS15,257,Mitochondrial ribosomal protein S15; Belongs to the universal ribosomal protein uS15 family. 9606.ENSP00000362217,DACH2,599,"Dachshund homolog 2; Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlyin [...] " 9606.ENSP00000362222,STK40,440,Serine/threonine-protein kinase 40; May be a negative regulator of NF-kappa-B and p53-mediated gene transcription. 9606.ENSP00000362235,ST6GALNAC6,374,"Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; Alpha-2,6-sialyltransferase involved in the synthesis of alpha-series gangliosides. Has activity toward GD1a, GT1b and GM1b. Has no activity toward glycoproteins. Responsible for the biosynthesis of DSGG (disialylgalactosylgloboside) from MSGG (monosialylgalactosylgloboside) in normal and malignant kidney. Participates in the synthesis of disialyl Lewis a (Le(a))." 9606.ENSP00000362238,POF1B,595,Protein POF1B; Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development. 9606.ENSP00000362244,MAP7D1,841,MAP7 domain containing 1; Belongs to the MAP7 family. 9606.ENSP00000362255,TSPO2,170,Translocator protein 2; Binds cholesterol and mediates its redistribution during erythropoiesis which may play a role in erythrocyte maturation. 9606.ENSP00000362268,APOOL,268,"MICOS complex subunit MIC27; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function." 9606.ENSP00000362272,HDX,690,Highly divergent homeobox. 9606.ENSP00000362273,ADPRHL2,363,"ADP-ribose glycohydrolase ARH3; ADP-ribose glycohydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP- ribose and acts on different substrates, such as proteins ADP- ribosylated on serine, free poly(ADP-ribose) and O-acetyl-ADP-D-ribose. Specifically acts as a serine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to serine residues on proteins, thereby playing a key role in DNA damage response. Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in [...] " 9606.ENSP00000362285,SLC29A3,475,"Equilibrative nucleoside transporter 3; Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine." 9606.ENSP00000362287,AGO3,860,Protein argonaute-3; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Proposed to be involved in stabilization of small RNA derivates (riRNA) derived from processed RNA polymerase III-transcribed Alu repeats containing a DR2 retinoic acid response element (RARE) in stem cells and in the subsequent riRNA- dependent degradation of a subset of RNA polymerase II-transcribed coding mRNAs by recruiting a mRNA decapping complex involving EDC4. Possesses RNA slicer activity bu [...] 9606.ENSP00000362294,PTPRT,1460,Receptor-type tyrosine-protein phosphatase T; May be involved in both signal transduction and cellular adhesion in the CNS; Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily. 9606.ENSP00000362298,SGPL1,568,"Sphingosine-1-phosphate lyase 1; Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis. Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro- inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal co [...] " 9606.ENSP00000362299,ENG,658,"Endoglin; Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis. Required for normal structure and integrity of adult vasculature. Regulates the migration of vascular endothelial cells. Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins [...] " 9606.ENSP00000362300,AGO1,857,"Protein argonaute-1; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs)." 9606.ENSP00000362304,ADAMTS14,1226,A disintegrin and metalloproteinase with thrombospondin motifs 14; Has aminoprocollagen type I processing activity in the absence of ADAMTS2. Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity. Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form. 9606.ENSP00000362306,AGO4,861,Protein argonaute-4; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV). Belongs to the argonaute family. Ago subfamily. 9606.ENSP00000362308,SH3BGRL,114,SH3 domain-binding glutamic acid-rich-like protein; SH3 domain binding glutamate rich protein like. 9606.ENSP00000362314,EIF4EBP2,120,"Eukaryotic translation initiation factor 4E-binding protein 2; Repressor of translation initiation involved in synaptic plasticity, learning and memory formation (By similarity). Regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form of EIF4EBP2 competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. EIF4EBP2 is enriched in brain and acts as a regulator of s [...] " 9606.ENSP00000362328,KCNK17,332,Potassium channel subfamily K member 17; Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. 9606.ENSP00000362329,PPA1,289,Inorganic pyrophosphatase 1. 9606.ENSP00000362330,CHD6,2715,Chromodomain-helicase-DNA-binding protein 6; DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin. Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2. Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000362332,TFAP2E,442,"Transcription factor AP-2-epsilon; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity)." 9606.ENSP00000362334,PSMB2,201,"Proteasome subunit beta type-2; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000362339,SAR1A,198,GTP-binding protein SAR1a; Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES). 9606.ENSP00000362340,NCDN,729,"Neurochondrin; Probably involved in signal transduction, in the nervous system, via increasing cell surface localization of GRM5 and positively regulating its signaling (By similarity). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin- dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth." 9606.ENSP00000362344,FPGS,587,"Folylpolyglutamate synthase, mitochondrial; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates." 9606.ENSP00000362352,MACROH2A2,372,"Core histone macro-H2A.2; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inact [...] " 9606.ENSP00000362353,GLP1R,463,Glucagon-like peptide 1 receptor; G-protein coupled receptor for glucagon-like peptide 1 (GLP- 1). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels. Plays a role in regulating insulin secretion in response to GLP-1 (By similarity). 9606.ENSP00000362361,CDK9,372,"Cyclin-dependent kinase 9; Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR and the negative elongation factors DSIF and NELF. Regulates cytoki [...] " 9606.ENSP00000362372,BRWD3,1802,Bromodomain and WD repeat-containing protein 3; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. 9606.ENSP00000362376,FAM241B,121,Protein FAM241B; May play a role in lysosome homeostasis. Belongs to the FAM241 family. 9606.ENSP00000362381,TOR2A,321,Torsin-2A; Torsin family 2 member A; Belongs to the ClpA/ClpB family. Torsin subfamily. 9606.ENSP00000362386,TTC16,873,Tetratricopeptide repeat domain 16. 9606.ENSP00000362387,TSPAN15,294,Tetraspanin-15; Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Promotes ADAM10-mediated cleavage of CDH2 (By similarity). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity ; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000362392,CFAP157,520,Cilia- and flagella-associated protein 157; Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure; Belongs to the CFAP157 family. 9606.ENSP00000362393,TBX22,520,T-box transcription factor TBX22; Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis. 9606.ENSP00000362395,ITM2A,263,Integral membrane protein 2A. 9606.ENSP00000362399,STXBP1,603,"Syntaxin-binding protein 1; Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions." 9606.ENSP00000362401,CYSLTR1,337,"Cysteinyl leukotriene receptor 1; Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4." 9606.ENSP00000362403,TACR2,398,Substance-K receptor; This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P. 9606.ENSP00000362409,NIBAN2,746,Protein Niban 2; May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro. 9606.ENSP00000362410,MAFB,323,"Transcription factor MafB; Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid- specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to [...] " 9606.ENSP00000362413,PGK1,417,"Phosphoglycerate kinase 1; Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3- diphosphoglycerate to 3-phosphoglycerate. In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein). May play a role in sperm motility." 9606.ENSP00000362424,TRAF3IP1,691,"TRAF3-interacting protein 1; Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels. Involved in ciliogenesis (By similarity)." 9606.ENSP00000362435,TMEM35B,154,Transmembrane protein 35B. 9606.ENSP00000362441,ATRX,2492,Transcriptional regulator ATRX; Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase a [...] 9606.ENSP00000362442,ARHGAP40,622,Rho GTPase-activating protein 40; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000362444,DLGAP3,979,Disks large-associated protein 3; May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD- 95/SAP90 at the plasma membrane; Belongs to the SAPAP family. 9606.ENSP00000362446,ZNF79,498,Zinc finger protein 79; May be involved in transcriptional regulation. 9606.ENSP00000362456,PBDC1,233,Protein PBDC1; Polysaccharide biosynthesis domain containing 1; Belongs to the PBDC1 family. 9606.ENSP00000362457,MAGEE2,523,Melanoma-associated antigen E2; MAGE family member E2. 9606.ENSP00000362463,GLO1,184,"Lactoylglutathione lyase; Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione. Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B. Required for normal osteoclastogenesis." 9606.ENSP00000362464,GJB3,270,"Gap junction beta-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000362465,ZDHHC15,337,Palmitoyltransferase ZDHHC15; Catalyzes palmitoylation of Cys residues on target proteins. Catalyzes palmitoylation of GAP43 and DLG4/PSD95. 9606.ENSP00000362469,SLC2A8,477,"Solute carrier family 2, facilitated glucose transporter member 8; Insulin-regulated facilitative hexose transporter that mediates the transport of glucose and fructose. Also able to mediate the transport of dehydroascorbate." 9606.ENSP00000362479,CSMD2,3631,CUB and Sushi multiple domains 2. 9606.ENSP00000362481,UPRT,309,Uracil phosphoribosyltransferase homolog; Belongs to the UPRTase family. 9606.ENSP00000362485,GARNL3,1013,GTPase-activating Rap/Ran-GAP domain-like protein 3; GTPase activating Rap/RanGAP domain like 3. 9606.ENSP00000362507,CCDC167,97,Coiled-coil domain containing 167. 9606.ENSP00000362508,UGT1A4,534,UDP-glucuronosyltransferase 1-4; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000362513,UGT1A5,534,UDP-glucuronosyltransferase 1-5; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000362524,ANGPTL2,493,Angiopoietin-related protein 2; Induces sprouting in endothelial cells through an autocrine and paracrine action. 9606.ENSP00000362525,UGT1A7,530,UDP-glucuronosyltransferase 1-7; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1; Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000362532,RPRD1B,326,"Regulation of nuclear pre-mRNA domain-containing protein 1B; Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3' end termination site and may allow it to be recruited back to the prom [...] " 9606.ENSP00000362540,AZIN2,480,"Antizyme inhibitor 2; Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme-binding. Inhibits antizyme- dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production. Participates in the morphological integrity of the [...] " 9606.ENSP00000362547,TTI1,1089,"TELO2-interacting protein 1 homolog; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate [...] " 9606.ENSP00000362549,UGT1A8,530,UDP-glucuronosyltransferase 1-8; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. 9606.ENSP00000362550,CMTR1,835,Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG- capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway. 9606.ENSP00000362551,ZBTB34,500,Zinc finger and BTB domain-containing protein 34; May be a transcriptional repressor. 9606.ENSP00000362555,RNF19B,732,"E3 ubiquitin-protein ligase RNF19B; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1. Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells. Protects against staurosporin-induced cell death." 9606.ENSP00000362560,VSTM2L,204,V-set and transmembrane domain-containing protein 2-like protein; V-set and transmembrane domain containing 2 like. 9606.ENSP00000362562,TMEM54,222,Transmembrane protein 54. 9606.ENSP00000362563,ZBTB43,467,Zinc finger and BTB domain-containing protein 43; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000362566,HPCA,193,Neuron-specific calcium-binding protein hippocalcin; Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels. May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity). Belongs to the recoverin family. 9606.ENSP00000362570,FNDC5,212,"Fibronectin type III domain-containing protein 5; [Irisin]: Contrary to mouse, may not be involved in the beneficial effects of muscular exercise, nor in the induction of browning of human white adipose tissue." 9606.ENSP00000362574,S100PBP,408,S100P binding protein. 9606.ENSP00000362576,YARS1,528,"Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two- step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr); Belongs to the class-I aminoacyl-tRNA synthetase family." 9606.ENSP00000362578,RNF8,485,"E3 ubiquitin-protein ligase RNF8; E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53 [...] " 9606.ENSP00000362588,PBX3,434,Pre-B-cell leukemia transcription factor 3; Transcriptional activator that binds the sequence 5'- ATCAATCAA-3'. 9606.ENSP00000362590,TBC1D22B,505,TBC1 domain family member 22B; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000362592,RBBP4,425,"Histone-binding protein RBBP4; Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome re [...] " 9606.ENSP00000362601,CHIC1,224,Cysteine-rich hydrophobic domain-containing protein 1; Cysteine rich hydrophobic domain 1; Belongs to the CHIC family. 9606.ENSP00000362608,PIM1,313,"Serine/threonine-protein kinase pim-1; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity. The stabilization of MYC exerted by PIM1 might explain pa [...] " 9606.ENSP00000362609,ZBTB8A,441,Zinc finger and BTB domain-containing protein 8A; May be involved in transcriptional regulation. 9606.ENSP00000362613,CDX4,284,Homeobox protein CDX-4; Caudal type homeobox 4; Belongs to the Caudal homeobox family. 9606.ENSP00000362616,NAP1L2,460,Nucleosome assembly protein 1-like 2; Acidic protein which may be involved in interactions with other proteins or DNA; Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000362618,PABPC1L2A,200,poly(A) binding protein cytoplasmic 1 like 2A. 9606.ENSP00000362621,PABPC1L2B,200,poly(A) binding protein cytoplasmic 1 like 2B. 9606.ENSP00000362634,TSSK3,268,Testis-specific serine/threonine-protein kinase 3; May be involved in a signaling pathway during male germ cell development or mature sperm function; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. 9606.ENSP00000362638,MARCKSL1,195,"MARCKS-related protein; Controls cell movement by regulating actin cytoskeleton homeostasis and filopodium and lamellipodium formation. When unphosphorylated, induces cell migration (By similarity). When phosphorylated by MAPK8, induces actin bundles formation and stabilization, thereby reducing actin plasticity, hence restricting cell movement, including neuronal migration (By similarity). May be involved in coupling the protein kinase C and calmodulin signal transduction systems (By similarity)." 9606.ENSP00000362639,RABEPK,372,Rab9 effector protein with kelch motifs; Rab9 effector required for endosome to trans-Golgi network (TGN) transport. 9606.ENSP00000362643,PHKA1,1223,"Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin." 9606.ENSP00000362649,HDAC1,482,"Histone deacetylase 1; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Deacetylates SP proteins, SP1 and SP3, and regulates their function. Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons. Upon calcium st [...] " 9606.ENSP00000362650,SCAI,629,Protein SCAI; Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity. May function in the RHOA-DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1; Belongs to the SCAI family. 9606.ENSP00000362656,GOLGA1,767,Golgin subfamily A member 1; Involved in vesicular trafficking at the Golgi apparatus level. Involved in endosome-to-Golgi trafficking. 9606.ENSP00000362674,HDAC8,377,"Histone deacetylase 8; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility." 9606.ENSP00000362680,SRC,536,"Proto-oncogene tyrosine-protein kinase Src; Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protein-coupled receptors as well as cytokine receptors. Participates in signaling pathways that control a diverse spectrum of biological activities including gene transcription, immune response, cell adhesion, cell cycle progression, apoptosis, migration, and transformation. Due to functional redundancy bet [...] " 9606.ENSP00000362682,OLFML2A,652,Olfactomedin-like protein 2A; Olfactomedin like 2A. 9606.ENSP00000362684,FAM167B,163,Protein FAM167B; Family with sequence similarity 167 member B; Belongs to the FAM167 (SEC) family. 9606.ENSP00000362687,DDX50,737,ATP-dependent RNA helicase DDX50; DExD-box helicase 50. 9606.ENSP00000362688,EIF3I,325,"Eukaryotic translation initiation factor 3 subunit I; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000362690,NR5A1,461,"Steroidogenic factor 1; Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (By [...] " 9606.ENSP00000362702,NEK6,347,"Serine/threonine-protein kinase Nek6; Protein kinase which plays an important role in mitotic cell cycle progression. Required for chromosome segregation at metaphase-anaphase transition, robust mitotic spindle formation and cytokinesis. Phosphorylates ATF4, CIR1, PTN, RAD26L, RBBP6, RPS7, RPS6KB1, TRIP4, STAT3 and histones H1 and H3. Phosphorylates KIF11 to promote mitotic spindle formation. Involved in G2/M phase cell cycle arrest induced by DNA damage. Inhibition of activity results in apoptosis. May contribute to tumorigenesis by suppressing p53/TP53-induced cancer cell senescence." 9606.ENSP00000362707,MANBAL,85,Protein MANBAL; Mannosidase beta like; Belongs to the UPF0239 family. 9606.ENSP00000362711,TXLNA,546,Alpha-taxilin; May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells; Belongs to the taxilin family. 9606.ENSP00000362716,GHRH,108,Somatoliberin; GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone. 9606.ENSP00000362717,LHX2,406,LIM/homeobox protein Lhx2; Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity). 9606.ENSP00000362727,DENND1A,1009,"DENN domain-containing protein 1A; Guanine nucleotide exchange factor (GEF) regulating clathrin- mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP- bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes. Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity)." 9606.ENSP00000362728,KPNA6,536,"Importin subunit alpha-7; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are [...] " 9606.ENSP00000362730,MTCH1,389,Mitochondrial carrier homolog 1; Potential mitochondrial transporter. May play a role in apoptosis. 9606.ENSP00000362734,CRB2,1285,"Protein crumbs homolog 2; Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-II [...] " 9606.ENSP00000362743,C2orf72,295,Uncharacterized protein C2orf72; Chromosome 2 open reading frame 72. 9606.ENSP00000362744,RPS4X,263,Ribosomal protein S4 X-linked; Belongs to the eukaryotic ribosomal protein eS4 family. 9606.ENSP00000362746,GPR21,349,Probable G-protein coupled receptor 21; Orphan receptor. 9606.ENSP00000362748,TET1,2136,"Methylcytosine dioxygenase TET1; Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcription [...] " 9606.ENSP00000362751,RABGAP1,1069,Rab GTPase-activating protein 1; May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition. 9606.ENSP00000362759,ADGRB2,1584,"Adhesion G protein-coupled receptor B2; Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT-signaling pathway, a transcription factor, via the G-protein GNAZ. Involved in angiogenesis inhibition (By similarity)." 9606.ENSP00000362760,ZBTB26,441,Zinc finger and BTB domain-containing protein 26; May be involved in transcriptional regulation. 9606.ENSP00000362763,ZBTB6,424,Zinc finger and BTB domain-containing protein 6; May be involved in transcriptional regulation. 9606.ENSP00000362768,RBL1,1068,"Retinoblastoma-like protein 1; Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhib [...] " 9606.ENSP00000362774,RC3H2,1191,"Roquin-2; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimul [...] " 9606.ENSP00000362776,COL16A1,1604,"Collagen alpha-1(XVI) chain; Involved in mediating cell attachment and inducing integrin- mediated cellular reactions, such as cell spreading and alterations in cell morphology." 9606.ENSP00000362777,ATOH7,152,Protein atonal homolog 7; Transcription factor involved in the differentiation of retinal ganglion cells. 9606.ENSP00000362784,OR5C1,320,Olfactory receptor 5C1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000362795,CXCR3,415,"C-X-C chemokine receptor type 3; [Isoform 1]: Receptor for the C-X-C chemokine CXCL9, CXCL10 and CXCL11 and mediates the proliferation, survival and angiogenic activity of human mesangial cells (HMC) through a heterotrimeric G- protein signaling pathway. Binds to CCL21. Probably promotes cell chemotaxis response. [Isoform 3]: Mediates the activity of CXCL11." 9606.ENSP00000362799,GCNA,691,Acidic repeat-containing protein; Germ cell nuclear acidic peptidase; Belongs to the serine-aspartate repeat-containing protein (SDr) family. 9606.ENSP00000362803,PPIL1,166,Peptidyl-prolyl cis-trans isomerase-like 1; Involved in pre-mRNA splicing as component of the spliceosome. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily. 9606.ENSP00000362807,PEF1,284,"Peflin; Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats. In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is [...] " 9606.ENSP00000362814,SERINC2,464,Serine incorporator 2; Belongs to the TDE1 family. 9606.ENSP00000362817,FABP3,133,"Fatty acid-binding protein, heart; FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family." 9606.ENSP00000362820,SRSF3,164,"Serine/arginine-rich splicing factor 3; Splicing factor that specifically promotes exon-inclusion during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA- binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing. Also functions as export adapter involved in mRNA nuclear export. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. [...] " 9606.ENSP00000362824,OGT,1046,"UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N- acetylglucosamine (O-GlcNAc). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, EZH2, PFKL, KMT2E/MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing. Probably by glycosylating [...] " 9606.ENSP00000362836,KCTD20,419,BTB/POZ domain-containing protein KCTD20; Promotes the phosphorylation of AKT family members. 9606.ENSP00000362841,NKAIN1,207,Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1; Sodium/potassium transporting ATPase interacting 1. 9606.ENSP00000362863,REEP3,255,Receptor expression-enhancing protein 3; Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes; Belongs to the DP1 family. 9606.ENSP00000362869,MORN5,161,MORN repeat containing 5. 9606.ENSP00000362870,MATN1,496,Cartilage matrix protein; Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen. 9606.ENSP00000362873,NDUFA8,172,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000362888,ADO,270,2-aminoethanethiol dioxygenase. 9606.ENSP00000362894,RTKN2,609,Rhotekin-2; May play an important role in lymphopoiesis. 9606.ENSP00000362900,SRSF4,494,Serine/arginine-rich splicing factor 4; Plays a role in alternative splice site selection during pre- mRNA splicing. Represses the splicing of MAPT/Tau exon 10. 9606.ENSP00000362924,GSN,782,"Gelsolin; Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis." 9606.ENSP00000362931,SRPK1,655,"SRSF protein kinase 1; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activiti [...] " 9606.ENSP00000362935,ITGB1BP2,347,Integrin beta-1-binding protein 2; May play a role during maturation and/or organization of muscles cells. 9606.ENSP00000362936,TRNAU1AP,287,"tRNA selenocysteine 1-associated protein 1; Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity); Belongs to the RRM TRSPAP family." 9606.ENSP00000362942,PHACTR4,712,"Phosphatase and actin regulator 4; Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to [...] " 9606.ENSP00000362946,RAB14,215,"Ras-related protein Rab-14; Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 sh [...] " 9606.ENSP00000362948,MED18,208,"Mediator of RNA polymerase II transcription subunit 18; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000362962,CNTRL,2325,"Centriolin; Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission." 9606.ENSP00000362968,CLPSL1,121,Colipase-like protein 1; Colipase like 1; Belongs to the colipase family. 9606.ENSP00000362978,EYA3,573,"Eyes absent homolog 3; Tyrosine phosphatase that specifically dephosphorylates 'Tyr- 142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX [...] " 9606.ENSP00000362981,TGIF2,237,"Homeobox protein TGIF2; Transcriptional repressor, which probably repress transcription by binding directly the 5'-CTGTCAA-3' DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins." 9606.ENSP00000362987,PHYHIPL,376,Phytanoyl-CoA hydroxylase-interacting protein-like; May play a role in the development of the central system. 9606.ENSP00000362991,XKR8,395,"XK-related protein 8, processed form; Promotes phosphatidylserine exposure on apoptotic cell surface, possibly by mediating phospholipid scrambling. Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment. Has no effect on calcium-induced exposure of phosphatidylserine. Activated upon caspase cleavage, suggesting that it does not act prior the onset of apoptosis; Belongs to the XK family." 9606.ENSP00000362993,BICC1,974,Protein bicaudal C homolog 1; Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development. 9606.ENSP00000362994,TRAF1,416,"TNF receptor-associated factor 1; Adapter molecule that regulates the activation of NF-kappa-B and JNK. Plays a role in the regulation of cell survival and apoptosis. The heterotrimer formed by TRAF1 and TRAF2 is part of a E3 ubiquitin- protein ligase complex that promotes ubiquitination of target proteins, such as MAP3K14. The TRAF1/TRAF2 complex recruits the antiapoptotic E3 protein-ubiquitin ligases BIRC2 and BIRC3 to TNFRSF1B/TNFR2." 9606.ENSP00000363001,SMPDL3B,455,"Acid sphingomyelinase-like phosphodiesterase 3b; Lipid-modulating phosphodiesterase. Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signaling (By similarity). Has in vitro phosphodiesterase activity, but the physiological substrate is unknown. Lacks activity with phosphocholine-containing lipids, but can cleave CDP-choline, and can release phosphate from ATP and ADP (in vitro) (By similarity). Belongs to the acid sphingomyelinase family." 9606.ENSP00000363017,RPA2,278,"Replication protein A 32 kDa subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRI [...] " 9606.ENSP00000363018,RPL10A,217,60S ribosomal protein L10a; Component of the large ribosomal subunit. 9606.ENSP00000363019,UBE2D1,147,"Ubiquitin-conjugating enzyme E2 D1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Ubiquitinates STUB1-associated HSP90AB1 in vitro. Lacks inherent specificity for any particular lysine residue of ubiquitin. Essential for viral activation of IRF3. Mediates polyubi [...] " 9606.ENSP00000363023,DLGAP4,989,Disks large-associated protein 4; May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD- 95/SAP90 at the plasma membrane. 9606.ENSP00000363031,THEMIS2,643,"Protein THEMIS2; May constitute a control point in macrophage inflammatory response, promoting LPS-induced TNF production." 9606.ENSP00000363040,MEGF9,602,Multiple epidermal growth factor-like domains protein 9; Multiple EGF like domains 9. 9606.ENSP00000363041,CISD1,108,CDGSH iron-sulfur domain-containing protein 1; Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation (By similarity). May be involved in Fe-S cluster shuttling and/or in redox reactions. Belongs to the CISD protein family. 9606.ENSP00000363043,AAR2,384,Protein AAR2 homolog; Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing. Belongs to the AAR2 family. 9606.ENSP00000363046,IPMK,416,"Inositol polyphosphate multikinase; Inositol phosphate kinase with a broad substrate specificity. Phosphorylates inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) first to inositol 1,3,4,5-tetrakisphosphate and then to inositol 1,3,4,5,6-pentakisphosphate (Ins(1,3,4,5,6)P5). Phosphorylates inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4). Phosphorylates glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate to glycero-3-phospho-1D-myo-inositol 3,4,5- trisphosphate. Plays an important role in MLKL-mediated necroptosis via its role in the biosynthesis of inositol pentakisphosphate (InsP5) and i [...] " 9606.ENSP00000363054,STX12,276,"Syntaxin-12; SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity); Belongs to the syntaxin family." 9606.ENSP00000363055,ZWINT,277,"ZW10 interactor; Part of the MIS12 complex, which is required for kinetochore formation and spindle checkpoint activity. Required to target ZW10 to the kinetochore at prometaphase." 9606.ENSP00000363064,ZNF76,570,Zinc finger protein 76; May be involved in transcriptional regulation. 9606.ENSP00000363068,PCDH15,1962,Protocadherin-15; Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function. 9606.ENSP00000363071,DES,470,"Desmin; Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z- line structures. May act as a sarcomeric microtubule-anch [...] " 9606.ENSP00000363079,MBL2,248,"Mannose-binding protein C; Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA." 9606.ENSP00000363081,DKK1,266,"Dickkopf-related protein 1; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease. Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner [...] " 9606.ENSP00000363089,TLR4,839,"Toll-like receptor 4; Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+). Responses triggered by Ni(2+) require non- conserved histidines and are, therefore, species-specific. Both M.tuberculosis HSP70 (dnaK) and HSP65 (groEL-2) act via this protein to stimulate NF-kappa-B expression. In complex with [...] " 9606.ENSP00000363092,PRKG1,686,"cGMP-dependent protein kinase 1; Serine/threonine protein kinase that acts as key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-s [...] " 9606.ENSP00000363103,SCAND1,179,SCAN domain-containing protein 1; May regulate transcriptional activity. 9606.ENSP00000363117,FGR,529,"Tyrosine-protein kinase Fgr; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts d [...] " 9606.ENSP00000363123,AHDC1,1603,AT-hook DNA-binding motif-containing protein 1; AT-hook DNA binding motif containing 1. 9606.ENSP00000363124,PHF20,1012,"PHD finger protein 20; Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 'Lys-16' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine- dependent p53/TP53 stabilization and up-regulation after DNA damage." 9606.ENSP00000363135,ILRUN,298,"Protein ILRUN; Negative regulator of innate antiviral response. Blocks IRF3- dependent cytokine production such as IFNA, IFNB and TNF. Interacts with IRF3 and inhibits IRF3 recruitment to type I IFN promoter sequences while also reducing nuclear levels of the coactivators EP300 and CREBBP." 9606.ENSP00000363136,GPR3,330,"G-protein coupled receptor 3; Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Has a potential role in modulating a number of brain functions, including behavioral responses to stress (By similarity), amyloid-beta peptide generation in neurons and neurite outgrowth (By similarity). Maintains also meiotic arrest in oocytes (By similarity)." 9606.ENSP00000363142,CD164L2,174,CD164 molecule like 2; Belongs to the CD164 family. 9606.ENSP00000363149,SPDEF,335,SAM pointed domain-containing Ets transcription factor; May function as an androgen-independent transactivator of the prostate-specific antigen (PSA) promoter. Binds to 5'-GGAT-3' DNA sequences. May play a role in the regulation of the prostate gland and/or prostate cancer development. Acts as a transcriptional activator for SERPINB5 promoter. 9606.ENSP00000363157,TNFSF15,251,"Tumor necrosis factor ligand superfamily member 15, membrane form; Receptor for TNFRSF25 and TNFRSF6B. Mediates activation of NF-kappa-B. Inhibits vascular endothelial growth and angiogenesis (in vitro). Promotes activation of caspases and apoptosis. Belongs to the tumor necrosis factor family." 9606.ENSP00000363161,TMEM268,343,Transmembrane protein 268. 9606.ENSP00000363162,ATP6V1G1,118,"V-type proton ATPase subunit G 1; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation." 9606.ENSP00000363191,ROMO1,79,Reactive oxygen species modulator 1; Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation; Belongs to the MGR2 family. 9606.ENSP00000363193,MED12,2177,"Mediator of RNA polymerase II transcription subunit 12; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifi [...] " 9606.ENSP00000363205,NFS1,457,"Cysteine desulfurase, mitochondrial; Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe- S) clusters. May be involved in the biosynthesis of molybdenum cofactor; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily." 9606.ENSP00000363207,AGAP5,686,"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5; Putative GTPase-activating protein; Belongs to the centaurin gamma-like family." 9606.ENSP00000363211,TIMM23B,188,Translocase of inner mitochondrial membrane 23 homolog B. 9606.ENSP00000363216,OGDHL,1010,"2-oxoglutarate dehydrogenase-like, mitochondrial; Oxoglutarate dehydrogenase L; Belongs to the alpha-ketoglutarate dehydrogenase family." 9606.ENSP00000363226,C10orf53,157,UPF0728 protein C10orf53; Chromosome 10 open reading frame 53. 9606.ENSP00000363228,RBM12,932,RNA binding motif protein 12. 9606.ENSP00000363229,SLC18A3,532,Vesicular acetylcholine transporter; Involved in acetylcholine transport into synaptic vesicles. 9606.ENSP00000363232,KIF12,513,Kinesin-like protein KIF12; Kinesin family member 12; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. 9606.ENSP00000363241,ZNF618,954,Zinc finger protein 618; May be involved in transcriptional regulation. 9606.ENSP00000363250,GPN2,310,GPN-loop GTPase 2; Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family. 9606.ENSP00000363254,DRGX,263,Dorsal root ganglia homeobox protein; Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain. 9606.ENSP00000363255,RGS3,1198,"Regulator of G-protein signaling 3; Down-regulates signaling from heterotrimeric G-proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. Down-regulates G-protein- mediated release of inositol phosphates and activation of MAP kinases." 9606.ENSP00000363257,ZDHHC18,388,Palmitoyltransferase ZDHHC18; Has palmitoyltransferase activity towards HRAS and LCK. 9606.ENSP00000363259,C10orf71,1435,Cardiac-enriched FHL2-interacting protein; Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. 9606.ENSP00000363260,PIGV,493,"GPI mannosyltransferase 2; Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly." 9606.ENSP00000363268,TMEM273,129,Transmembrane protein 273. 9606.ENSP00000363270,RUFY4,607,"RUN and FYVE domain-containing protein 4; Positively regulates macroautophagy in primary dendritic cells. Increases autophagic flux, probably by stimulating both autophagosome formation and facilitating tethering with lysosomes. Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE- type zinc finger." 9606.ENSP00000363275,LRRC18,261,Leucine-rich repeat-containing protein 18; May be involved in the regulation of spermatogenesis and sperm maturation. 9606.ENSP00000363286,POLE3,147,"DNA polymerase epsilon subunit 3; Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication (By similarity). Forms a complex with CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1." 9606.ENSP00000363298,BSPRY,402,B box and SPRY domain-containing protein; May regulate epithelial calcium transport by inhibiting TRPV5 activity. 9606.ENSP00000363308,WDR31,367,WD repeat domain 31. 9606.ENSP00000363313,PRPF4,522,"U4/U6 small nuclear ribonucleoprotein Prp4; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex)." 9606.ENSP00000363314,LIN28A,209,"Protein lin-28 homolog A; RNA-binding protein that inhibits processing of pre-let-7 miRNAs and regulates translation of mRNAs that control developmental timing, pluripotency and metabolism. Seems to recognize a common structural G-quartet (G4) feature in its miRNA and mRNA targets (Probable). 'Translational enhancer' that drives specific mRNAs to polysomes and increases the efficiency of protein synthesis. Its association with the translational machinery and target mRNAs results in an increased number of initiation events per molecule of mRNA and, indirectly, in mRNA stabilization. Bin [...] " 9606.ENSP00000363317,FRMPD2,1309,"FERM and PDZ domain-containing protein 2; May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2)." 9606.ENSP00000363318,IL2RG,369,"Cytokine receptor common subunit gamma; Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15. Belongs to the type I cytokine receptor family. Type 5 subfamily." 9606.ENSP00000363322,CDC26,85,"Anaphase-promoting complex subunit CDC26; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex." 9606.ENSP00000363329,SLC31A1,190,"High affinity copper uptake protein 1; High-affinity, saturable copper transporter involved in dietary copper uptake." 9606.ENSP00000363330,CD52,61,"CAMPATH-1 antigen; May play a role in carrying and orienting carbohydrate, as well as having a more specific role." 9606.ENSP00000363339,UBXN11,520,"UBX domain-containing protein 11; May be involved in the reorganization of actin cytoskeleton mediated by RND1, RND2 AND RND3. Promotes RHOA activation mediated by GNA12 and GNA13 (By similarity)." 9606.ENSP00000363345,SLC46A2,475,Thymic stromal cotransporter homolog; May act as a transporter; Belongs to the major facilitator superfamily. SLC46A family. 9606.ENSP00000363349,SNX30,437,Sorting nexin-30; May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family. 9606.ENSP00000363360,INIP,104,"SOSS complex subunit C; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways." 9606.ENSP00000363369,CXorf65,183,Uncharacterized protein CXorf65; Chromosome X open reading frame 65. 9606.ENSP00000363371,CNKSR1,720,Connector enhancer of kinase suppressor of ras 1; May function as an adapter protein or regulator of Ras signaling pathways; Belongs to the CNKSR family. 9606.ENSP00000363377,FOXO4,505,"Forkhead box protein O4; Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle. Involved in increased proteasome activity in embryonic stem cells (ESCs) by activating expression of PSMD11 in ESCs, leading to enhanced assembly of the 26S proteasome, followed by higher proteasome activity." 9606.ENSP00000363382,SUSD1,757,Sushi domain containing 1. 9606.ENSP00000363384,ZNF593,134,Zinc finger protein 593; Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity. Could act either by binding to DNA octamer or by interacting with Oct-2. May also be a modulator of other octamer-binding proteins. 9606.ENSP00000363386,FAM110D,271,Protein FAM110D; Family with sequence similarity 110 member D; Belongs to the FAM110 family. 9606.ENSP00000363389,PDIK1L,341,Serine/threonine-protein kinase PDIK1L; PDLIM1 interacting kinase 1 like. 9606.ENSP00000363390,TRIM63,353,"E3 ubiquitin-protein ligase TRIM63; E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-h [...] " 9606.ENSP00000363391,SPAG4,437,Sperm-associated antigen 4 protein; Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODF [...] 9606.ENSP00000363394,SLC30A2,372,Zinc transporter 2; Solute carrier family 30 member 2; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. 9606.ENSP00000363397,UGCG,394,"Ceramide glucosyltransferase; Catalyzes at the cytosolic surface of the Golgi, the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway, the transfer of glucose from UDP-glucose to ceramide to produce glucosylceramide/GlcCer. Glucosylceramide is the core component of glycosphingolipids/GSLs, amphipathic molecules consisting of a ceramide lipid moiety embedded in the outer leaflet of the membrane, linked to one of hundreds of different externally oriented oligosaccharide structures. Glycosphingolipids are essential components of membrane microdomains that m [...] " 9606.ENSP00000363398,EXTL1,676,Exostosin-like 1; Probable glycosyltransferase; Belongs to the glycosyltransferase 47 family. 9606.ENSP00000363400,PAFAH2,392,"Platelet-activating factor acetylhydrolase 2, cytoplasmic; Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme." 9606.ENSP00000363405,SHOC1,1444,"Protein shortage in chiasmata 1 ortholog; ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures. Does not show nuclease activity in vitro, but shows ATPase activity, which is stimulated by the presence of single-stranded DNA ; Belongs to the XPF family. Highly divergent." 9606.ENSP00000363411,GNG10,68,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Interacts with beta-1 and beta-2, but not with beta-3." 9606.ENSP00000363412,DNAJC25-GNG10,153,"Guanine nucleotide-binding protein subunit gamma; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000363414,PAQR7,346,"Membrane progestin receptor alpha; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(i) mediated pathway. May be involved in oocyte maturation. Involved in neurosteroid inhibition of apoptosis. Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone. Belongs to the ADIPOR family." 9606.ENSP00000363417,SLC7A3,619,"Cationic amino acid transporter 3; Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family." 9606.ENSP00000363419,MTFR1L,292,Mitochondrial fission regulator 1 like; Belongs to the MTFR1 family. 9606.ENSP00000363431,NPY4R,375,Neuropeptide Y receptor Y4. 9606.ENSP00000363435,ITPR3,2671,"Inositol 1,4,5-trisphosphate receptor type 3; Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium." 9606.ENSP00000363436,GPRIN2,458,G protein-regulated inducer of neurite outgrowth 2; May be involved in neurite outgrowth. 9606.ENSP00000363441,SYT15,421,Synaptotagmin-15; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. 9606.ENSP00000363452,MAN1C1,630,"Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC; Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc; Belongs to the glycosyl hydrolase 47 family." 9606.ENSP00000363458,LDLRAP1,308,"Low density lipoprotein receptor adapter protein 1; Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non- polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internaliza [...] " 9606.ENSP00000363459,PTPN20,420,Tyrosine-protein phosphatase non-receptor type 20; Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates; Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily. 9606.ENSP00000363463,MACO1,664,Macoilin; Plays a role in the regulation of neuronal activity. Belongs to the macoilin family. 9606.ENSP00000363478,TMEM50A,157,Transmembrane protein 50A; Belongs to the UPF0220 family. 9606.ENSP00000363480,DLG3,817,Disks large homolog 3; Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling. 9606.ENSP00000363492,GDF5,501,"Growth/differentiation factor 5; Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction. Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG. Required to prevent excessive muscle loss upo [...] " 9606.ENSP00000363500,CLIC4,253,Chloride intracellular channel protein 4; Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell-surface expression of HRH3. Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical-basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis). 9606.ENSP00000363506,UQCC1,299,Ubiquinol-cytochrome-c reductase complex assembly factor 1; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability. 9606.ENSP00000363512,ALOX5,674,"Arachidonate 5-lipoxygenase; Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. Belongs to the lipoxygenase family." 9606.ENSP00000363513,NCMAP,102,Noncompact myelin-associated protein; Plays a role in myelin formation. 9606.ENSP00000363516,RCAN3,241,Calcipressin-3; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity). 9606.ENSP00000363520,NIPAL3,406,NIPA-like protein 3; NIPA like domain containing 3. 9606.ENSP00000363522,OR13A1,328,Olfactory receptor 13A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000363524,KIF4A,1232,"Chromosome-associated kinesin KIF4A; Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization." 9606.ENSP00000363529,FAM83C,747,Protein FAM83C; May play a role in MAPK signaling. Belongs to the FAM83 family. 9606.ENSP00000363530,STPG1,334,O(6)-methylguanine-induced apoptosis 2; May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine. 9606.ENSP00000363533,MDH1B,518,Malate dehydrogenase 1B. 9606.ENSP00000363553,LPAR1,364,"Lysophosphatidic acid receptor 1; Receptor for lysophosphatidic acid (LPA). Plays a role in the reorganization of the actin cytoskeleton, cell migration, differentiation and proliferation, and thereby contributes to the responses to tissue damage and infectious agents. Activates downstream signaling cascades via the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Signaling inhibits adenylyl cyclase activity and decreases cellular cAMP levels. Signaling triggers an increase of cytoplasmic Ca(2+) levels. Activates RALA; this leads to the activation of phospholipase C [...] " 9606.ENSP00000363557,MYOM3,1437,Myomesin-3; May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle. 9606.ENSP00000363558,ZNF485,441,Zinc finger protein 485; May be involved in transcriptional regulation. 9606.ENSP00000363559,EIF6,245,"Eukaryotic translation initiation factor 6; Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)- dependent protein kinase C activity. In tissues responsive to insulin, contro [...] " 9606.ENSP00000363571,MUSK,869,"Muscle, skeletal receptor tyrosine-protein kinase; Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskel [...] " 9606.ENSP00000363583,RASGEF1A,489,"Ras-GEF domain-containing family member 1A; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration." 9606.ENSP00000363590,CSGALNACT2,542,"Chondroitin sulfate N-acetylgalactosaminyltransferase 2; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains." 9606.ENSP00000363591,BAK1,211,"Bcl-2 homologous antagonist/killer; Plays a role in the mitochondrial apoptosic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases." 9606.ENSP00000363593,SVEP1,3571,"Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1; May play a role in the cell attachment process." 9606.ENSP00000363596,CNR2,360,"Cannabinoid receptor 2; Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis." 9606.ENSP00000363597,RAB41,222,Ras-related protein Rab-41; Required for normal Golgi ribbon organization and ER-to-Golgi trafficking. 9606.ENSP00000363603,FUCA1,466,"Tissue alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins; Belongs to the glycosyl hydrolase 29 family." 9606.ENSP00000363614,HMGCL,325,"Hydroxymethylglutaryl-CoA lyase, mitochondrial; Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3- methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism." 9606.ENSP00000363616,EDEM2,578,"ER degradation-enhancing alpha-mannosidase-like protein 2; Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner. May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2. Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity)." 9606.ENSP00000363634,TXNDC8,115,Thioredoxin domain-containing protein 8; May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm. 9606.ENSP00000363638,LYPLA2,231,"Acyl-protein thioesterase 2; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins, GAP43, ZDHHC6 or HRAS. Deacylates GAP43. Mediates depalmitoylation of ZDHHC6. Has lysophospholipase activity (By similarity)." 9606.ENSP00000363640,PHF1,567,"PHD finger protein 1; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing [...] " 9606.ENSP00000363641,TXN,105,"Thioredoxin; Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions. Plays a role in the reversible S- nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity. Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates [...] " 9606.ENSP00000363642,BMS1,1282,Ribosome biogenesis protein BMS1 homolog; May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus. 9606.ENSP00000363643,P2RY4,365,P2Y purinoceptor 4; Receptor for UTP and UDP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP. 9606.ENSP00000363645,AWAT1,328,"Acyl-CoA wax alcohol acyltransferase 1; Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters. Shows a strong preference for decyl alcohol (C10), with less activity towards C16 and C18 alcohols. Shows a strong preference for saturated acyl-CoAs." 9606.ENSP00000363654,PALM2AKAP2,1103,"A-kinase anchor protein 2; Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity)." 9606.ENSP00000363661,IGBP1,339,"Immunoglobulin-binding protein 1; Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits." 9606.ENSP00000363667,PTPN3,913,Tyrosine-protein phosphatase non-receptor type 3; May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity. 9606.ENSP00000363680,EDA,391,"Ectodysplasin-A, membrane form; Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R. May also play a role in cell adhesion (By similarity). [Isoform 3]: Binds only to the receptor EDA2R. Belongs to the tumor necrosis factor family." 9606.ENSP00000363689,ID3,119,"DNA-binding protein inhibitor ID-3; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the [...] " 9606.ENSP00000363694,EPB41L4B,900,"Band 4.1-like protein 4B; Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells. Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing. May have a role in mediating cytoskeletal changes associated with steroid- induced cell differentiation." 9606.ENSP00000363708,BMPR2,1038,"Bone morphogenetic protein receptor type-2; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6." 9606.ENSP00000363714,TMEM245,879,Transmembrane protein 245; Belongs to the autoinducer-2 exporter (AI-2E) (TC 2.A.86) family. 9606.ENSP00000363727,STARD8,1103,"StAR-related lipid transfer protein 8; Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5-bisphosphate by PLCD1." 9606.ENSP00000363745,HNRNPR,636,"Heterogeneous nuclear ribonucleoprotein R; Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus." 9606.ENSP00000363746,WDR46,610,WD repeat-containing protein 46; Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus. 9606.ENSP00000363748,HTR1D,377,"5-hydroxytryptamine receptor 1D; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Regulates the release of 5-hydroxytryptamine in the brain, and thereby affects neural activity. May also pl [...] " 9606.ENSP00000363753,ABITRAM,181,"Protein Abitram; Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons." 9606.ENSP00000363770,C1QC,245,"Complement C1q subcomponent subunit C; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes." 9606.ENSP00000363773,C1QA,245,"Complement C1q subcomponent subunit A; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes." 9606.ENSP00000363779,ELP1,1332,"Elongator complex protein 1; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha- tubulin acetylation (By similarity). May act as a scaffold protein that may assemble acti [...] " 9606.ENSP00000363787,RING1,406,"E3 ubiquitin-protein ligase RING1; Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of 'Lys-119' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A 'Lys-119' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG P [...] " 9606.ENSP00000363794,HSD17B8,261,"Estradiol 17-beta-dehydrogenase 8; NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone. The heterotetramer with CBR4 has NADH- dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis. Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD. Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000363799,ACTL7B,415,Actin-like protein 7B; Actin like 7B; Belongs to the actin family. 9606.ENSP00000363804,KLF4,479,"Krueppel-like factor 4; Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also fu [...] " 9606.ENSP00000363809,SLC39A7,469,"Zinc transporter SLC39A7; Zinc transporter, that transports Zn(2+) from the endoplasmic reticulum/Golgi apparatus to the cytosol. Transport is stimulated by growth factors, such as EGF, and Ca(2+), as well as by exogenous Zn(2+); Belongs to the ZIP transporter (TC 2.A.5) family. KE4/Catsup subfamily." 9606.ENSP00000363817,RXRB,537,"Retinoic acid receptor RXR-beta; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE); Belongs to the nuclear hormone receptor family. NR2 subfamily." 9606.ENSP00000363822,AR,920,"Androgen receptor; Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation. Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DA [...] " 9606.ENSP00000363824,TMEM38B,291,Trimeric intracellular cation channel type B; Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores; Belongs to the TMEM38 family. 9606.ENSP00000363826,FZD8,694,"Frizzled-8; Receptor for Wnt proteins. Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated i [...] " 9606.ENSP00000363827,HSPG2,4391,"Basement membrane-specific heparan sulfate proteoglycan core protein; Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. The LG3 peptide has anti-angiogenic properties that require [...] " 9606.ENSP00000363832,AOX1,1338,"Aldehyde oxidase; Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species [...] " 9606.ENSP00000363836,CCNY,341,"Cyclin-Y; Positive regulatory subunit of the cyclin-dependent kinases CDK14/PFTK1 and CDK16. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by recruiting CDK14/PFTK1 to the plasma membrane and promoting phosphorylation of LRP6, leading to the activation of the Wnt signaling pathway. Recruits CDK16 to the plasma membrane. Isoform 3 might play a role in the activation of MYC-mediated transcription." 9606.ENSP00000363840,COL11A2,1650,Collagen alpha-2(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. 9606.ENSP00000363852,SLC44A1,657,Choline transporter-like protein 1; Choline transporter. May be involved in membrane synthesis and myelin production; Belongs to the CTL (choline transporter-like) family. 9606.ENSP00000363868,ABCA1,2261,"Phospholipid-transporting ATPase ABCA1; Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. Thereby, participates to phospholipids transfer to apoliproteins to form nascent high density lipoproteins/HDLs. Transports preferentially phosphatidylcholine over phosphatidylserine. May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs ; Belongs to the ABC transporter superfamily. ABCA family." 9606.ENSP00000363869,VSIG4,399,"V-set and immunoglobulin domain-containing protein 4; Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production. Potent inhibitor of the alternative complement pathway convertases." 9606.ENSP00000363873,OXLD1,147,Oxidoreductase-like domain-containing protein 1; Oxidoreductase like domain containing 1. 9606.ENSP00000363891,SLC38A10,1119,Putative sodium-coupled neutral amino acid transporter 10; Putative sodium-dependent amino acid/proton antiporter. 9606.ENSP00000363894,NIPSNAP3B,247,Nipsnap homolog 3B; Belongs to the NipSnap family. 9606.ENSP00000363895,RAP1GAP,748,"Rap1 GTPase-activating protein 1; GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP- bound state." 9606.ENSP00000363899,NIPSNAP3A,247,Nipsnap homolog 3A; Belongs to the NipSnap family. 9606.ENSP00000363911,OR13C5,318,Olfactory receptor 13C5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000363913,OR13C3,347,Olfactory receptor 13C3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000363921,PARD3,1356,"Partitioning defective 3 homolog; Adapter protein involved in asymmetrical cell division and cell polarization processes. Seems to play a central role in the formation of epithelial tight junctions. Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Required for establishment of [...] " 9606.ENSP00000363929,NCOA6,2063,"Nuclear receptor coactivator 6; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone- dependent fashion. Coactivates expression in an agonist- and AF2- dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. [...] " 9606.ENSP00000363943,TP53INP2,220,"Tumor protein p53-inducible nuclear protein 2; Dual regulator of transcription and autophagy. Positively regulates autophagy and is required for autophagosome formation and processing. May act as a scaffold protein that recruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to the autophagosome membrane by interacting with VMP1 where, in cooperation with the BECN1-PI3-kinase class III complex, they trigger autophagosome development. Acts as a transcriptional activator of THRA." 9606.ENSP00000363944,LAS1L,734,"Ribosomal biogenesis protein LAS1L; Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes." 9606.ENSP00000363970,MAP1LC3A,125,"Microtubule-associated proteins 1A/1B light chain 3A; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Through its interaction with the reticulophagy receptor TEX264, paticipates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover." 9606.ENSP00000363972,ZC4H2,224,Zinc finger C4H2 domain-containing protein; Plays a role in interneurons differentiation. Involved in neuronal development and in neuromuscular junction formation. 9606.ENSP00000363973,ALPL,524,"Alkaline phosphatase, tissue-nonspecific isozyme; This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi); Belongs to the alkaline phosphatase family." 9606.ENSP00000363976,HLA-DMA,261,"HLA class II histocompatibility antigen, DM alpha chain; Plays a critical role in catalyzing the release of class II- associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO." 9606.ENSP00000363984,PGAP4,403,Transmembrane protein 246; post-GPI attachment to proteins GalNAc transferase 4. 9606.ENSP00000363985,MTMR8,704,"Myotubularin-related protein 8; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5- bisphosphate. In complex with MTMR9, negatively regulates autophagy." 9606.ENSP00000363993,PSMB9,219,"Proteasome subunit beta type-9; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues." 9606.ENSP00000363999,MRPL50,158,Mitochondrial ribosomal protein L50. 9606.ENSP00000364000,COL5A2,1499,"Collagen alpha-2(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity)." 9606.ENSP00000364003,AMER1,1135,"APC membrane recruitment protein 1; Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-caten [...] " 9606.ENSP00000364008,PLPPR1,325,Phospholipid phosphatase-related protein type 1; Phospholipid phosphatase related 1. 9606.ENSP00000364013,TMEFF1,380,Tomoregulin-1; May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers. 9606.ENSP00000364016,PSMB8,276,"Proteasome subunit beta type-8; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the liga [...] " 9606.ENSP00000364018,SPIN4,249,Spindlin-4; Exhibits H3K4me3-binding activity. Belongs to the SPIN/STSY family. 9606.ENSP00000364023,ZXDB,803,Zinc finger X-linked protein ZXDB; Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes; Belongs to the ZXD family. 9606.ENSP00000364028,ECE1,770,Endothelin-converting enzyme 1; Converts big endothelin-1 to endothelin-1. Belongs to the peptidase M13 family. 9606.ENSP00000364032,TAP2,686,"Antigen peptide transporter 2; Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation [...] " 9606.ENSP00000364035,FAAH2,532,"Fatty-acid amide hydrolase 2; Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates." 9606.ENSP00000364037,TEX10,929,"Testis-expressed protein 10; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit." 9606.ENSP00000364043,SPIN2A,258,Spindlin-2A; May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity. 9606.ENSP00000364076,HLA-DQA2,255,"HLA class II histocompatibility antigen, DQ alpha 2 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for p [...] " 9606.ENSP00000364080,HLA-DQB1,269,"HLA class II histocompatibility antigen, DQ beta 1 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] " 9606.ENSP00000364089,PAGE3,113,PAGE family member 3. 9606.ENSP00000364107,PAGE2,111,PAGE family member 2. 9606.ENSP00000364110,PAGE2B,111,PAGE family member 2B; Belongs to the GAGE family. 9606.ENSP00000364114,HLA-DRB5,266,"HLA class II histocompatibility antigen, DR beta 5 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] " 9606.ENSP00000364118,MSANTD2,559,Myb/SANT-like DNA-binding domain-containing protein 2; Myb/SANT DNA binding domain containing 2. 9606.ENSP00000364119,EIF2S2,333,"Eukaryotic translation initiation factor 2 subunit 2; eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyz [...] " 9606.ENSP00000364126,APEX2,518,"DNA-(apurinic or apyrimidinic site) lyase 2; Functions as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5' exonuclease, 3'- phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heterodup [...] " 9606.ENSP00000364140,COL15A1,1388,"Collagen alpha-1(XV) chain; Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle." 9606.ENSP00000364145,PFKFB1,471,"6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family." 9606.ENSP00000364150,GALNT12,581,"Polypeptide N-acetylgalactosaminyltransferase 12; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynth [...] " 9606.ENSP00000364163,NOTCH4,2003,"Neurogenic locus notch homolog protein 4; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (By similarity)." 9606.ENSP00000364164,OR10G9,311,Olfactory receptor 10G9; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000364166,TMEM225,225,Transmembrane protein 225; Probably inhibits protein phosphatase 1 (PP1) in sperm via binding to catalytic subunit PPP1CC. 9606.ENSP00000364183,GPSM3,160,G-protein-signaling modulator 3; Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins. 9606.ENSP00000364190,PBX2,430,Pre-B-cell leukemia transcription factor 2; Transcriptional activator that binds the sequence 5'- ATCAATCAA-3'. Activates transcription of PF4 in complex with MEIS1. 9606.ENSP00000364193,MAGED2,606,"Melanoma-associated antigen D2; Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule." 9606.ENSP00000364204,PINK1,581,"Serine/threonine-protein kinase PINK1, mitochondrial; Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN. Targets PRKN to dysfunctional depolarized mitochondria through the phosphorylation of MFN2. Activates PRKN in 2 steps: (1) by mediating phosphorylation at 'Ser-65' of PRKN and (2) mediating phosphorylation of ubiquitin, converting PRKN to its fully-active form. Required for ubiquinone reduct [...] " 9606.ENSP00000364210,AGER,420,"Advanced glycosylation end product-specific receptor; Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the production/expression of TNF-alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction with S1 [...] " 9606.ENSP00000364212,CDA,146,Cytidine deaminase; This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis. 9606.ENSP00000364219,CAMK2N1,78,Calcium/calmodulin-dependent protein kinase II inhibitor 1; Potent and specific inhibitor of CaM-kinase II (CAMK2). Belongs to the CAMK2N family. 9606.ENSP00000364220,VWA5B1,1220,Von Willebrand factor A domain containing 5B1. 9606.ENSP00000364235,RNF5,180,E3 ubiquitin-protein ligase RNF5; Has E2-dependent E3 ubiquitin-protein ligase activity. May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4. Mediates ubiquitination of PXN/paxillin and Salmonella type III secreted protein sopA. May be involved in regulation of cell motility and localization of PXN/paxillin. Mediates the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N. Me [...] 9606.ENSP00000364240,UBXN10,280,UBX domain-containing protein 10; VCP/p97-binding protein required for ciliogenesis. Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT- B) in cilia. UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 ; Belongs to the UBXN10 family. 9606.ENSP00000364243,PLA2G2F,211,"Group IIF secretory phospholipase A2; May play a role in lipid mediator production in inflammatory conditions, by providing arachidonic acid to downstream cyclooxygenases and lipoxygenases (By similarity). Phospholipase A2, which catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn- phosphoglycerides. Hydrolyzes phosphatidylethanolamine more efficiently than phosphatidylcholine, with only a modest preference for arachidonic acid versus linoelic acid at the sn-2 position. Comparable activity toward 1-palmitoyl-2-oleoyl- phosphatidylserine vesicles to that toward 1-pal [...] " 9606.ENSP00000364246,PLA2G2D,145,Group IID secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2-linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined. 9606.ENSP00000364249,PLA2G5,138,"Calcium-dependent phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzes more efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholine than L- alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L-alpha-1- palmitoyl-2-arachidonyl phosphatidylethanolamine, or L-alpha-1- stearoyl-2-arachidonyl phosphatidylinositol. May be involved in the production of lung surfactant, the remodeling or regulation of cardiac muscle." 9606.ENSP00000364257,PLA2G2E,142,Group IIE secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic- containing phospholipids. 9606.ENSP00000364260,TRMO,441,tRNA (adenine(37)-N6)-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase responsible for the addition of the methyl group in the formation of N6-methyl-N6-threonylcarbamoyladenosine at position 37 (m(6)t(6)A37) of the tRNA anticodon loop of tRNA(Ser)(GCU). The methyl group of m(6)t(6)A37 may improve the efficiency of the tRNA decoding ability. May bind to tRNA (By similarity). 9606.ENSP00000364261,OTUD3,398,OTU domain-containing protein 3; Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys- 11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains. 9606.ENSP00000364263,RNF186,227,"E3 ubiquitin-protein ligase RNF186; E3 ubiquitin protein ligase that is part of an apoptotic signaling pathway activated by endoplasmic reticulum stress. In that process, stimulates the expression of proteins specific of the unfolded protein response (UPR), ubiquitinates BNIP1 and regulates its localization to the mitochondrion and induces calcium release from the endoplasmic reticulum that ultimately leads to cell apoptosis." 9606.ENSP00000364265,FOXE1,373,"Forkhead box protein E1; Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression." 9606.ENSP00000364270,XPA,273,"DNA repair protein complementing XP-A cells; Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. Belongs to the XPA family." 9606.ENSP00000364277,FGD1,961,"FYVE, RhoGEF and PH domain-containing protein 1; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape." 9606.ENSP00000364289,NCBP1,790,"Nuclear cap-binding protein subunit 1; Component of the cap-binding complex (CBC), which binds cotranscriptionally to the 5'-cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5'-end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC [...] " 9606.ENSP00000364293,TSR2,191,Pre-rRNA-processing protein TSR2 homolog; May be involved in 20S pre-rRNA processing. 9606.ENSP00000364295,SLC66A1,291,"Lysosomal amino acid transporter 1 homolog; Amino acid transporter that specifically mediates the pH- dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes." 9606.ENSP00000364298,FKBPL,349,FK506-binding protein-like; May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21. 9606.ENSP00000364320,MRTO4,239,"mRNA turnover protein 4 homolog; Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes." 9606.ENSP00000364324,FAM120C,1096,Constitutive coactivator of PPAR-gamma-like protein 2; Family with sequence similarity 120C; Belongs to the constitutive coactivator of PPAR-gamma family. 9606.ENSP00000364346,ZNF341,854,Zinc finger protein 341; Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000364349,ATF6B,703,Processed cyclic AMP-dependent transcription factor ATF-6 beta; Transcriptional factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress. Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE. 9606.ENSP00000364361,MAP3K20,800,Mitogen-activated protein kinase kinase kinase 20; Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2. Involved in limb development. 9606.ENSP00000364370,C20orf144,153,Uncharacterized protein C20orf144; Chromosome 20 open reading frame 144. 9606.ENSP00000364379,ZNF510,683,Zinc finger protein 510; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000364382,PRXL2C,226,Peroxiredoxin-like 2C; May regulate positively ERK1/2 signaling and AKT1 activation leading to HIF1A up-regulation with an increased expression of glycolysis genes and enhanced glycolysis. Belongs to the peroxiredoxin-like PRXL2 family. PRXL2C subfamily. 9606.ENSP00000364389,CDC14B,498,"Dual specificity protein phosphatase CDC14B; Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases." 9606.ENSP00000364397,TMEM94,1366,Transmembrane protein 94. 9606.ENSP00000364398,HABP4,413,"Intracellular hyaluronan-binding protein 4; RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation. Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation. Binds (via C-terminus) to poly(U) RNA. Involved in mRNA translation regulation, probably at the initiation step. Seems to play a role in PML-nuclear bodies formation." 9606.ENSP00000364403,UBR4,5183,"E3 ubiquitin-protein ligase UBR4; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization. Regulates integrin- mediated signaling. May play a role in activation of FAK in response to cell-matrix interactions. Mediates ubiquitination of ACLY, leading to its subsequent degrad [...] " 9606.ENSP00000364404,DCAF17,520,DDB1- and CUL4-associated factor 17; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000364405,ZNF367,350,Zinc finger protein 367; Transcriptional activator. Isoform 1 may be involved in transcriptional activation of erythroid genes. 9606.ENSP00000364412,HSD17B3,310,Testosterone 17-beta-dehydrogenase 3; Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH. 9606.ENSP00000364430,SP5,398,Transcription factor Sp5; Binds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo (By similarity). 9606.ENSP00000364448,UPF3A,476,"Regulator of nonsense transcripts 3A; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. However, UPF3A is shown to be only marginally active in NMD as compared to UPF3B. Binds spliced mRNA upstream of exon-exon [...] " 9606.ENSP00000364449,SIK3,1321,"Serine/threonine-protein kinase SIK3; Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor. Involved in the dynamic regulation of mTOR signaling in chondrocyte differentiation during skeletogenesis. Negatively regulates cAMP signaling pathway possibly by acting on CRTC2/TORC2 and CRTC3/TORC3 (Probable). Prevents HDAC4 translocation to the nucleus (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily." 9606.ENSP00000364464,AOPEP,819,"Aminopeptidase O; Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart." 9606.ENSP00000364467,LYZL2,194,Lysozyme-like protein 2; Lysozyme like 2. 9606.ENSP00000364476,RIBC1,379,RIB43A domain with coiled-coils 1; Belongs to the RIB43A family. 9606.ENSP00000364482,STK19,368,"Serine/threonine-protein kinase 19; Serine/threonine-protein kinase that acts as a key regulator of NRAS signaling by mediating phosphorylation of NRAS at 'Ser-89', thereby enhancing NRAS-binding to its downstream effectors. Belongs to the STK19 family." 9606.ENSP00000364486,FBP2,339,"Fructose-1,6-bisphosphatase isozyme 2; Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate." 9606.ENSP00000364490,ALDH4A1,563,"Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma- semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes." 9606.ENSP00000364493,MFSD14B,506,Hippocampus abundant transcript-like protein 1; Major facilitator superfamily domain containing 14B. 9606.ENSP00000364498,DXO,396,"Decapping and exoribonuclease protein; Ribonuclease that specifically degrades pre-mRNAs with a defective 5' end cap and is part of a pre-mRNA capping quality control. Has decapping, pyrophosphohydrolase and 5'-3' exonuclease activities. Has decapping activity toward incomplete 5' end cap mRNAs such as unmethylated 5' end-capped RNA to release GpppN and 5' end monophosphate RNA. The 5' end monophosphate RNA is then degraded by the 5'-3' exoribonuclease activity, enabling this enzyme to decap and degrade incompletely capped mRNAs. Also possesses RNA 5'- pyrophosphohydrolase activity by [...] " 9606.ENSP00000364501,CD300LD,194,CMRF35-like molecule 5; CD300 molecule like family member d. 9606.ENSP00000364502,TMEM255B,326,Transmembrane protein 255B. 9606.ENSP00000364512,G6PC2,355,Glucose-6-phosphatase 2; May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity). 9606.ENSP00000364515,BTBD17,478,BTB/POZ domain-containing protein 17; BTB domain containing 17. 9606.ENSP00000364519,TFDP1,410,"Transcription factor Dp-1; Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters ; Belongs to the E2F/DP family." 9606.ENSP00000364520,TAS1R2,839,Taste receptor type 1 member 2; Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. 9606.ENSP00000364524,PAX7,520,Paired box protein Pax-7; Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation. 9606.ENSP00000364526,JCAD,1359,Junctional protein associated with coronary artery disease; Junctional cadherin 5 associated. 9606.ENSP00000364543,SKIV2L,1246,Helicase SKI2W; Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C); Belongs to the helicase family. SKI2 subfamily. 9606.ENSP00000364550,KDM5C,1560,"Lysine-specific demethylase 5C; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys- 27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By [...] " 9606.ENSP00000364555,ACTL8,366,Actin-like protein 8; Actin like 8. 9606.ENSP00000364561,FAM120AOS,256,Uncharacterized protein FAM120AOS; Family with sequence similarity 120A opposite strand. 9606.ENSP00000364567,ADPRHL1,354,[Protein ADP-ribosylarginine] hydrolase-like protein 1; ADP-ribosylhydrolase like 1. 9606.ENSP00000364568,C9orf129,196,Putative uncharacterized protein C9orf129; Chromosome 9 open reading frame 129. 9606.ENSP00000364578,NELFE,380,"Negative elongation factor E; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. Provides the strongest RNA binding activity of the NELF complex and may initially recruit the NELF complex to RNA. Belongs to the RRM NELF-E family." 9606.ENSP00000364579,GRTP1,344,Growth hormone-regulated TBC protein 1; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000364585,RCC2,522,"Protein RCC2; Multifunctional protein that may effect its functions by regulating the activity of small GTPases, such as RAC1 and RALA. Required for normal progress through the cell cycle, both during interphase and during mitosis. Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles. Required for normal organization of the microtubule cytoskeleton in interphase cells. Functions as guanine nucleotide exchange factor (GEF) for RALA. Interferes with the activation of RAC1 b [...] " 9606.ENSP00000364589,CUL4A,759,Cullin-4A; Core component of multiple cullin-RING-based E3 ubiquitin- protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition co [...] 9606.ENSP00000364591,TSPYL2,693,"Testis-specific Y-encoded-like protein 2; Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A expression." 9606.ENSP00000364595,NINJ1,152,Ninjurin-1; Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. Cell adhesion requires divalent cations. 9606.ENSP00000364597,PADI4,663,"Protein-arginine deiminase type-4; Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance. Citrullinates histone H1 at 'Arg-54' (to form H1R54ci), histone H3 at 'Arg-2', 'Arg-8', 'Arg-17' and/or 'Arg-26' (to form H3R2ci, H3R8ci, H3R17ci, H3R26ci, respectively) and histone H4 at 'Arg-3' (to form H4R3ci). Acts as a key regulator of stem cell maintenance by mediating citrullination of histone H1: citrullination of 'Arg-54' of histone H1 (H1R54ci) results in H1 displaceme [...] " 9606.ENSP00000364603,BPIFA3,254,BPI fold containing family A member 3; Belongs to the BPI/LBP/Plunc superfamily. Plunc family. 9606.ENSP00000364609,PADI3,664,Protein-arginine deiminase type-3; Catalyzes the deimination of arginine residues of proteins. 9606.ENSP00000364613,CARD19,183,Caspase recruitment domain-containing protein 19; Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner. 9606.ENSP00000364620,PADI1,663,Protein-arginine deiminase type-1; Catalyzes the deimination of arginine residues of proteins. Belongs to the protein arginine deiminase family. 9606.ENSP00000364621,SUSD3,255,"Sushi domain-containing protein 3; May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration." 9606.ENSP00000364627,NXPE4,544,NXPE family member 4; Neurexophilin and PC-esterase domain family member 4; Belongs to the NXPE family. 9606.ENSP00000364632,BPIFB4,614,"BPI fold-containing family B member 4; May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity); Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family." 9606.ENSP00000364635,PADI2,665,Protein-arginine deiminase type-2; Catalyzes the deimination of arginine residues of proteins. 9606.ENSP00000364639,RBM7,267,"RNA-binding protein 7; RNA-binding subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. NEXT is involved in surveillance and turnover of aberrant transcripts and non-coding RNAs. Binds preferentially polyuridine sequences and associates with newly synthesized RNAs, including pre- mRNAs and short-lived exosome substrates such as promoter upstream transcripts (PROMPTs), enhancer RNAs (eRNAs), and 3'-extended products from small nuclear RNAs (snRN [...] " 9606.ENSP00000364643,BPIFB3,476,"BPI fold-containing family B member 3; May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity)." 9606.ENSP00000364649,SDHB,280,"Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q)." 9606.ENSP00000364650,LYZL1,194,Lysozyme-like protein 1; Lysozyme like 1; Belongs to the glycosyl hydrolase 22 family. 9606.ENSP00000364661,SPANXN5,72,Sperm protein associated with the nucleus on the X chromosome N5; SPANX family member N5; Belongs to the SPAN-X family. 9606.ENSP00000364677,ZBTB12,459,Zinc finger and BTB domain-containing protein 12; May be involved in transcriptional regulation. 9606.ENSP00000364683,BAMBI,260,BMP and activin membrane-bound inhibitor homolog; Negatively regulates TGF-beta signaling; Belongs to the BAMBI family. 9606.ENSP00000364685,MFAP2,183,Microfibrillar-associated protein 2; Component of the elastin-associated microfibrils; Belongs to the MFAP family. 9606.ENSP00000364691,CROCC,2017,"Rootletin; Major structural component of the ciliary rootlet, a cytoskeletal-like structure in ciliated cells which originates from the basal body at the proximal end of a cilium and extends proximally toward the cell nucleus (By similarity). Furthermore, is required for the correct positioning of the cilium basal body relative to the cell nucleus, to allow for ciliogenesis. Contributes to centrosome cohesion before mitosis." 9606.ENSP00000364694,ASPN,380,"Asporin; Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cart [...] " 9606.ENSP00000364699,SDHD,159,"Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q)." 9606.ENSP00000364700,OMD,421,Osteomodulin; May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)-integrin (By similarity). 9606.ENSP00000364709,F10,488,"Activated factor Xa heavy chain; Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting." 9606.ENSP00000364711,OGN,298,Mimecan; Induces bone formation in conjunction with TGF-beta-1 or TGF- beta-2. 9606.ENSP00000364721,MAPRE1,268,"Microtubule-associated protein RP/EB family member 1; Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes cytoplasmic microtubule nucleation and elongation. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, a [...] " 9606.ENSP00000364731,F7,466,"Coagulation factor VII; Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium." 9606.ENSP00000364737,CENPP,288,"Centromere protein P; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex." 9606.ENSP00000364742,FBXO42,717,"F-box only protein 42; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation." 9606.ENSP00000364749,CPLANE2,258,Ciliogenesis and planar polarity effector 2; Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity). 9606.ENSP00000364752,XAGE1A,81,X antigen family member 1A. 9606.ENSP00000364765,LAYN,382,Layilin; Receptor for hyaluronate. 9606.ENSP00000364766,XAGE1B,81,X antigen family member 1B. 9606.ENSP00000364782,NEU1,415,"Sialidase-1; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage." 9606.ENSP00000364794,IARS1,1262,"Isoleucine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA." 9606.ENSP00000364801,HSPA1B,641,"Heat shock 70 kDa protein 1A; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and AD [...] " 9606.ENSP00000364802,HSPA1A,641,Heat shock protein family A member 1A. 9606.ENSP00000364805,HSPA1L,641,"Heat shock 70 kDa protein 1-like; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis an [...] " 9606.ENSP00000364813,LSM2,95,"U6 snRNA-associated Sm-like protein LSm2; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA." 9606.ENSP00000364814,FAM131C,280,Protein FAM131C; Family with sequence similarity 131 member C. 9606.ENSP00000364815,VARS1,1264,Valine--tRNA ligase; valyl-tRNA synthetase 1; Belongs to the class-I aminoacyl-tRNA synthetase family. 9606.ENSP00000364831,CLCNKB,687,"Chloride channel protein ClC-Kb; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily." 9606.ENSP00000364839,ASXL1,1541,"Polycomb group protein ASXL1; Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non- catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK [...] " 9606.ENSP00000364840,VWA7,891,Von Willebrand factor A domain containing 7. 9606.ENSP00000364847,MAGED1,834,"Melanoma-associated antigen D1; Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl- conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression [...] " 9606.ENSP00000364855,MSH5,835,MutS protein homolog 5; Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity); Belongs to the DNA mismatch repair MutS family. 9606.ENSP00000364858,CARD16,197,"Caspase recruitment domain-containing protein 16; Caspase inhibitor. Acts as a regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-interleukin-1 beta (IL1B) and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. Also induces NF-kappa-B activation during the pro-inflammatory cytokine response. Also able to inhibit CASP1-mediated neuronal cell death, TNF- alpha, hypoxia-, UV-, and staurosporine-mediated cell death but not ER stress-mediated cell death. Acts by preventing activation of cas [...] " 9606.ENSP00000364859,CARD17,110,"Caspase recruitment domain-containing protein 17; Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation." 9606.ENSP00000364860,ROR2,943,"Tyrosine-protein kinase transmembrane receptor ROR2; Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation. In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling." 9606.ENSP00000364864,KIF3B,747,"Kinesin-like protein KIF3B, N-terminally processed; Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro (By similarity)." 9606.ENSP00000364870,HSPB7,245,Heat shock protein family B member 7; Belongs to the small heat shock protein (HSP20) family. 9606.ENSP00000364883,AUH,339,"Methylglutaconyl-CoA hydratase, mitochondrial; Catalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA. Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway. The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs." 9606.ENSP00000364885,ZBTB17,810,"Zinc finger and BTB domain-containing protein 17; Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrul [...] " 9606.ENSP00000364886,RND3,244,Rho-related GTP-binding protein RhoE; Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. 9606.ENSP00000364898,SYK,635,"Tyrosine-protein kinase SYK; Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can a [...] " 9606.ENSP00000364902,POFUT1,388,"GDP-fucose protein O-fucosyltransferase 1; Catalyzes the reaction that attaches fucose through an O- glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP- fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that ca [...] " 9606.ENSP00000364912,SPEN,3664,"Msx2-interacting protein; May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2- mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses t [...] " 9606.ENSP00000364919,DIRAS2,199,GTP-binding protein Di-Ras2; Displays low GTPase activity and exists predominantly in the GTP-bound form; Belongs to the small GTPase superfamily. Di-Ras family. 9606.ENSP00000364929,ING1,422,Inhibitor of growth protein 1; Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumor suppressor gene. 9606.ENSP00000364935,CLIC1,241,Chloride intracellular channel protein 1; Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle. 9606.ENSP00000364938,TMEM82,343,Transmembrane protein 82. 9606.ENSP00000364946,MKX,352,Homeobox protein Mohawk; May act as a morphogenetic regulator of cell adhesion. Belongs to the TALE/IRO homeobox family. 9606.ENSP00000364949,DDAH2,285,"N(G),N(G)-dimethylarginine dimethylaminohydrolase 2; Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)- monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation." 9606.ENSP00000364956,PLEKHM2,1019,Pleckstrin homology domain-containing family M member 2; May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation. May play a role in lysosomes movement and localization at the cell periphery. 9606.ENSP00000364965,SECISBP2,854,Selenocysteine insertion sequence-binding protein 2; Binds to the SECIS element in the 3'-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB. 9606.ENSP00000364976,CKS2,79,Cyclin-dependent kinases regulatory subunit 2; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. 9606.ENSP00000364978,LY6G6C,125,Lymphocyte antigen 6 family member G6C. 9606.ENSP00000364979,COL4A1,1669,"Collagen alpha-1(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen." 9606.ENSP00000364985,LY6G6D,133,Lymphocyte antigen 6 family member G6D. 9606.ENSP00000364986,AGMAT,352,"Agmatinase, mitochondrial; Agmatinase." 9606.ENSP00000364992,LY6G6F,297,Lymphocyte antigen 6 complex locus protein G6f; May play a role in the downstream signal transduction pathways involving GRB2 and GRB7. 9606.ENSP00000364995,SHC3,594,SHC-transforming protein 3; Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons. 9606.ENSP00000365006,S1PR3,378,"Sphingosine 1-phosphate receptor 3; Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis." 9606.ENSP00000365007,DNAJC16,782,DnaJ heat shock protein family member C16. 9606.ENSP00000365012,HCK,526,"Tyrosine-protein kinase HCK; Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic p [...] " 9606.ENSP00000365014,NXNL2,156,"Nucleoredoxin-like protein 2; May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons; Belongs to the nucleoredoxin family." 9606.ENSP00000365016,IRS2,1338,Insulin receptor substrate 2; May mediate the control of various cellular processes by insulin. 9606.ENSP00000365019,SPIN1,262,"Spindlin-1; Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at 'Lys-4' and asymmetrically dimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as an activator of Wnt signaling pathway downstream of PRMT2. In case of cancer, promotes cell cancer proliferation via activation of the Wnt signaling pathway. Overexpression induces metaphase arrest and chromosomal instability. Localizes to active rDNA loci and promotes the expression of rRNA genes. May play a role in cell- cycle regulation during the transition from gamete to embryo. Involved in oocyte [...] " 9606.ENSP00000365024,LY6G5B,201,Lymphocyte antigen 6 family member G5B. 9606.ENSP00000365042,CSNK2B,215,Casein kinase II subunit beta; Participates in Wnt signaling (By similarity). Plays a complex role in regulating the basal catalytic activity of the alpha subunit; Belongs to the casein kinase 2 subunit beta family. 9606.ENSP00000365048,TNFSF13B,285,"Tumor necrosis factor ligand superfamily member 13b, membrane form; Cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA. TNFSF13/APRIL binds to the same 2 receptors. Together, they form a 2 ligands -2 receptors pathway involved in the stimulation of B- and T- cell function and the regulation of humoral immunity. A third B-cell specific BAFF-receptor (BAFFR/BR3) promotes the survival of mature B- cells and the B-cell response. [Isoform 3]: Acts as a transcription factor for its own parent gene, in association with NF-kappa-B p50 subunit, at least in autoimmune and proliferative B-ce [...] " 9606.ENSP00000365049,ACBD5,534,Acyl-CoA-binding domain-containing protein 5; Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters. 9606.ENSP00000365063,ABHD13,337,Protein ABHD13; Abhydrolase domain containing 13. 9606.ENSP00000365071,GPANK1,356,G-patch domain and ankyrin repeats 1. 9606.ENSP00000365075,CELA2B,269,Chymotrypsin-like elastase family member 2B; Acts upon elastin; Belongs to the peptidase S1 family. Elastase subfamily. 9606.ENSP00000365076,C6orf47,294,Uncharacterized protein C6orf47; Chromosome 6 open reading frame 47. 9606.ENSP00000365080,FAM155A,458,Transmembrane protein FAM155A; Family with sequence similarity 155 member A. 9606.ENSP00000365081,APOM,188,"Apolipoprotein M; Probably involved in lipid transport. Can bind sphingosine-1- phosphate, myristic acid, palmitic acid and stearic acid, retinol, all- trans-retinoic acid and 9-cis-retinoic acid." 9606.ENSP00000365107,MASTL,879,"Serine/threonine-protein kinase greatwall; Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser- 62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity hi [...] " 9606.ENSP00000365116,CTRC,268,Chymotrypsin-C; Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity. 9606.ENSP00000365130,TUT7,1495,"Terminal uridylyltransferase 7; Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay. Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation [...] " 9606.ENSP00000365131,BAG6,1132,"Large proline-rich protein BAG6; ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins. Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail- anchored/type II transmembrane proteins to the end [...] " 9606.ENSP00000365145,FOXS1,330,"Forkhead box protein S1; Transcriptional repressor that suppresses transcription from the FASLG, FOXO3 and FOXO4 promoters. May have a role in the organization of the testicular vasculature (By similarity)." 9606.ENSP00000365147,EFHD2,240,EF-hand domain-containing protein D2; May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance. 9606.ENSP00000365159,ISCA1,129,"Iron-sulfur cluster assembly 1 homolog, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly. Belongs to the HesB/IscA family." 9606.ENSP00000365160,NUDT11,164,"Diphosphoinositol polyphosphate phosphohydrolase 3-beta; Cleaves a beta-phosphate from the diphosphate groups in PP- InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5- phosphoribose 1-diphosphate; Belongs to the Nudix hydrolase family. DIPP subfamily." 9606.ENSP00000365162,MYLK2,596,"Myosin light chain kinase 2, skeletal/cardiac muscle; Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family." 9606.ENSP00000365172,POGLUT2,502,Protein O-glucosyltransferase 2; Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyze the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1 and NOTCH3. May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway. Belongs to the KDELC family. 9606.ENSP00000365174,NUDT10,164,"Diphosphoinositol polyphosphate phosphohydrolase 3-alpha; Cleaves a beta-phosphate from the diphosphate groups in PP- InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5- phosphoribose 1-diphosphate." 9606.ENSP00000365176,TMEM51,253,Transmembrane protein 51. 9606.ENSP00000365188,SHROOM4,1493,Protein Shroom4; Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity); Belongs to the shroom family. 9606.ENSP00000365198,KAZN,775,Kazrin; Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known. 9606.ENSP00000365200,TEX30,227,Testis-expressed protein 30; Testis expressed 30. 9606.ENSP00000365201,PRRC2A,2157,Protein PRRC2A; May play a role in the regulation of pre-mRNA splicing. 9606.ENSP00000365210,CCNB3,1395,"G2/mitotic-specific cyclin-B3; Cyclins are positive regulatory subunits of the cyclin- dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I." 9606.ENSP00000365220,TPP2,1262,Tripeptidyl-peptidase 2; Component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway. May be able to complement the 26S proteasome function to some extent under conditions in which the latter is inhibited. Stimulates adipogenesis (By similarity). 9606.ENSP00000365227,AIF1,147,Allograft inflammatory factor 1; Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Promotes the proliferation of vascular smooth muscle cells and of T-lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation. 9606.ENSP00000365230,BCL2L1,233,"Bcl-2-like protein 1; Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage- dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis. Isoform Bcl-X(S) promotes apoptosis." 9606.ENSP00000365243,COX4I2,171,"Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives tran [...] " 9606.ENSP00000365253,LRRC38,294,"Leucine-rich repeat-containing protein 38; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium." 9606.ENSP00000365255,ANKRD26,1710,Ankyrin repeat domain-containing protein 26; Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior. 9606.ENSP00000365256,CLCN5,816,H(+)/Cl(-) exchange transporter 5; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function; Belongs to the chloride channel (TC 2.A.49) family. ClC- 5/CLCN5 subfamily. 9606.ENSP00000365261,LST1,104,Leukocyte-specific transcript 1 protein; Possible role in modulating immune responses. Induces morphological changes including production of filopodia and microspikes when overexpressed in a variety of cell types and may be involved in dendritic cell maturation. Isoform 1 and isoform 2 have an inhibitory effect on lymphocyte proliferation. 9606.ENSP00000365266,PRAMEF17,474,PRAME family member 17; Belongs to the PRAME family. 9606.ENSP00000365269,PRAMEF19,479,PRAME family member 19; Belongs to the PRAME family. 9606.ENSP00000365272,DLG2,975,Disks large homolog 2; Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity). 9606.ENSP00000365280,ID1,155,"DNA-binding protein inhibitor ID-1; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the C [...] " 9606.ENSP00000365295,FAM181B,426,Protein FAM181B; Family with sequence similarity 181 member B; Belongs to the FAM181 family. 9606.ENSP00000365301,FGF14,252,Fibroblast growth factor 14; Probably involved in nervous system development and function. 9606.ENSP00000365312,ABI1,508,"Abl interactor 1; May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl- mediated phosphorylation of ENAH. Recru [...] " 9606.ENSP00000365318,NFKBIL1,381,NF-kappa-B inhibitor-like protein 1; Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. 9606.ENSP00000365320,PAGE1,146,PAGE family member 1. 9606.ENSP00000365322,PRAMEF15,478,PRAME family member 15; Belongs to the PRAME family. 9606.ENSP00000365351,ITGBL1,494,Integrin subunit beta like 1. 9606.ENSP00000365360,PRAMEF6,476,PRAME family member 6; Belongs to the PRAME family. 9606.ENSP00000365362,MCCD1,119,Mitochondrial coiled-coil domain 1. 9606.ENSP00000365370,HNRNPCL1,293,Heterogeneous nuclear ribonucleoprotein C-like 1; May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs. 9606.ENSP00000365380,FOXP3,431,"Forkhead box protein P3, C-terminally processed; Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases. The s [...] " 9606.ENSP00000365388,PDSS1,415,"Decaprenyl-diphosphate synthase subunit 1; Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. Belongs to the FPP/GGPP synthase family." 9606.ENSP00000365395,AADACL4,407,Arylacetamide deacetylase like 4. 9606.ENSP00000365401,CCDC22,627,"Coiled-coil domain-containing protein 22; Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10. Component of the CCC complex, which is inv [...] " 9606.ENSP00000365402,HLA-C,366,"HLA class I histocompatibility antigen, C alpha chain; Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity. In complex with B2M/beta 2 microglobulin displays a restricted repertoire of self and viral peptides and acts as a dominant ligand for inhibitory and activating killer immunoglobulin receptors (KIRs) expressed on NK cells. In an allogeneic setting, such as during pregnancy, mediates interaction of extravillous trophoblasts with KIR on uterine NK cells and regulate trophoblast invasion necessary [...] " 9606.ENSP00000365407,ZNF549,640,Zinc finger protein 549; May be involved in transcriptional regulation. 9606.ENSP00000365411,APBB1IP,666,Amyloid beta A4 precursor protein-binding family B member 1-interacting protein; Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion; Belongs to the MRL family. 9606.ENSP00000365413,SLC28A3,691,"Solute carrier family 28 member 3; Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'- azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine. Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family." 9606.ENSP00000365426,GGACT,153,Gamma-glutamylaminecyclotransferase; Contributes to degradation of proteins cross-linked by transglutaminases by degrading the cross-link between a lysine and a glutamic acid residue. Catalyzes the formation of 5-oxo-L-proline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl- alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine; Belongs to the gamma-glutamylcyclotransferase family. 9606.ENSP00000365433,TCF19,345,Transcription factor 19; Potential trans-activating factor that could play an important role in the transcription of genes required for the later stages of cell cycle progression. 9606.ENSP00000365435,TNFRSF1B,461,"Tumor necrosis factor receptor superfamily member 1b, membrane form; Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Isoform 2 blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity." 9606.ENSP00000365437,GAD2,585,Glutamate decarboxylase 2; Catalyzes the production of GABA. 9606.ENSP00000365441,CACNA1F,1977,"Voltage-dependent L-type calcium channel subunit alpha-1F; [Isoform 1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzot [...] " 9606.ENSP00000365458,HNRNPK,464,"Heterogeneous nuclear ribonucleoprotein K; One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription [...] " 9606.ENSP00000365462,PCCA,728,"Propionyl-CoA carboxylase alpha chain, mitochondrial; This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites. Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl- CoA/(S)-methylmalonyl-CoA. Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domai [...] " 9606.ENSP00000365465,CDSN,529,Corneodesmosin; Important for the epidermal barrier integrity. 9606.ENSP00000365473,MUC21,566,"Mucin-21; Mucin 21, cell surface associated." 9606.ENSP00000365477,CCDC93,631,"Coiled-coil domain-containing protein 93; Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and coop [...] " 9606.ENSP00000365486,DEFB123,67,Beta-defensin 123; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000365492,DEFB119,88,Defensin beta 119. 9606.ENSP00000365503,SHISA7,538,"Protein shisa-7; Transmembrane protein that regulates gamma-aminobutyric acid type A receptor (GABA(A)R) trafficking, channel deactivation kinetics and pharmacology, necessary for fast inhibitory transmission in the brain. Enhances the action of benzodiazepine, a primary GABA(A)Rs target drug, in the brain. May affect channel kinetics of AMPA-type glutamate receptors (AMPAR), the brain's main excitatory neurotransmitter, necessary for synaptic hippocampal plasticity, and memory recall. May regulate the induction and maintenance of long-term potentiation at Schaffer collaterals/CA3-CA1 [...] " 9606.ENSP00000365505,PLP2,152,Proteolipid protein 2; May play a role in cell differentiation in the intestinal epithelium. 9606.ENSP00000365514,ZIC2,532,Zinc finger protein ZIC 2; Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye- specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5' [...] 9606.ENSP00000365522,C9orf64,341,Queuosine salvage protein; Involved in salvaging queuosine. 9606.ENSP00000365528,PTPRH,1115,"Receptor-type tyrosine-protein phosphatase H; Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin- promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activat [...] " 9606.ENSP00000365529,GPR158,1215,Probable G-protein coupled receptor 158; Orphan receptor; Belongs to the G-protein coupled receptor 3 family. 9606.ENSP00000365530,STXBP4,553,"Syntaxin-binding protein 4; Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity)." 9606.ENSP00000365533,CLYBL,340,"Citramalyl-CoA lyase, mitochondrial; Mitochondrial citramalyl-CoA lyase indirectly involved in the vitamin B12 metabolism. Converts citramalyl-CoA into acetyl-CoA and pyruvate in the C5-dicarboxylate catabolism pathway. The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite. Also acts as a malate synthase in vitro, converting glyoxylate and acetyl-CoA to malate. Also displays malyl-CoA thioesterase activity. Also acts as a beta-methylmalate synthase in vitro, by mediating conversion of glyoxylate and propionyl-CoA to beta-methylmal [...] " 9606.ENSP00000365536,A6NM71_HUMAN,292,PRA1 family protein. 9606.ENSP00000365550,GKAP1,366,G kinase-anchoring protein 1; Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involved in TNF-induced impairment of insulin-dependent IRS1 tyrosine phosphorylation. 9606.ENSP00000365569,FLOT1,427,"Flotillin-1; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles." 9606.ENSP00000365576,UBQLN1,589,"Ubiquilin-1; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin- proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome. Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a lin [...] " 9606.ENSP00000365588,MDC1,2089,"Mediator of DNA damage checkpoint protein 1; Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be ac [...] " 9606.ENSP00000365596,GPR183,361,"G-protein coupled receptor 183; G-protein coupled receptor expressed in lymphocytes that acts as a chemotactic receptor for B-cells, T-cells, splenic dendritic cells, monocytes/macrophages and astrocytes (By similarity). Receptor for oxysterol 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) and other related oxysterols. Mediates cell positioning and movement of a number of cells by binding the 7-alpha,25-OHC ligand that forms a chemotactic gradient (By similarity). Binding of 7-alpha,25-OHC mediates the correct localization of B-cells during humoral immune responses (By similarity). G [...] " 9606.ENSP00000365601,IDNK,187,IDNK gluconokinase. 9606.ENSP00000365606,GRIPAP1,841,"GRIP1-associated protein 1; Regulates the endosomal recycling back to the neuronal plasma membrane, possibly by connecting early and late recycling endosomal domains and promoting segregation of recycling endosomes from early endosomal membranes. Involved in the localization of recycling endosomes to dendritic spines, thereby playing a role in the maintenance of dendritic spine morphology. Required for the activity- induced AMPA receptor recycling to dendrite membranes and for long-term potentiation and synaptic plasticity (By similarity)." 9606.ENSP00000365625,DHX16,1041,Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16; Required for pre-mRNA splicing as component of the spliceosome. Contributes to pre-mRNA splicing after spliceosome formation and prior to the first transesterification reaction. 9606.ENSP00000365630,RASEF,740,"Ras and EF-hand domain-containing protein; Binds predominantly GDP, and also GTP." 9606.ENSP00000365637,KIAA1217,1943,Sickle tail protein homolog; Required for normal development of intervertebral disks. 9606.ENSP00000365643,DOCK9,2068,Dedicator of cytokinesis protein 9; Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation. 9606.ENSP00000365651,NPPB,134,"Brain natriuretic peptide 32; Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. Belongs to the natriuretic peptide family." 9606.ENSP00000365663,NPPA,151,"Atrial natriuretic factor; Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3." 9606.ENSP00000365678,OTUD1,481,OTU domain-containing protein 1; Deubiquitinating enzyme that specifically hydrolyzes 'Lys- 63'-linked polyubiquitin to monoubiquitin. 9606.ENSP00000365682,TLE1,770,"Transducin-like enhancer protein 1; Transcriptional corepressor that binds to a number of transcription factors. Inhibits NF-kappa-B-regulated gene expression. Inhibits the transcriptional activation mediated by FOXA2, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full- length TLE family members may be modulated by association with dominant-negative AES. Unusual function as coactivator for ESRRG. Belongs to the WD repeat Groucho/TLE family." 9606.ENSP00000365686,SLC15A1,708,Solute carrier family 15 member 1; Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route for the absorption of protein digestion end-products; Belongs to the PTR2/POT transporter (TC 2.A.17) family. 9606.ENSP00000365687,PTF1A,328,Pancreas transcription factor 1 subunit alpha; Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an impor [...] 9606.ENSP00000365692,PIM2,311,"Serine/threonine-protein kinase pim-2; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signaling by phosphorylation of a pro- apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity. The stabilization of MYC exerted by PIM2 might explain partly the [...] " 9606.ENSP00000365693,MSRB2,182,"Methionine-R-sulfoxide reductase B2, mitochondrial; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maint [...] " 9606.ENSP00000365694,PPP1R10,940,"Serine/threonine-protein phosphatase 1 regulatory subunit 10; Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) [...] " 9606.ENSP00000365714,TTYH1,460,Protein tweety homolog 1; Probable chloride channel. May be involved in cell adhesion (By similarity); Belongs to the tweety family. 9606.ENSP00000365720,TLE4,805,"Transducin-like enhancer protein 4; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity); Belongs to the WD repeat Groucho/TLE family." 9606.ENSP00000365725,ABHD12,404,"Lysophosphatidylserine lipase ABHD12; Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyze [...] " 9606.ENSP00000365730,STK24,443,"Serine/threonine-protein kinase 24 12 kDa subunit; Serine/threonine-protein kinase that acts on both serine and threonine residues and promotes apoptosis in response to stress stimuli and caspase activation. Mediates oxidative-stress-induced cell death by modulating phosphorylation of JNK1-JNK2 (MAPK8 and MAPK9), p38 (MAPK11, MAPK12, MAPK13 and MAPK14) during oxidative stress. Plays a role in a staurosporine-induced caspase-independent apoptotic pathway by regulating the nuclear translocation of AIFM1 and ENDOG and the DNase activity associated with ENDOG. Phosphorylates STK38L on 'Thr [...] " 9606.ENSP00000365744,PRR3,188,Proline-rich protein 3; Proline rich 3. 9606.ENSP00000365745,CTTN,634,"Src substrate cortactin; Contributes to the organization of the actin cytoskeleton and cell shape. Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases. Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates co [...] " 9606.ENSP00000365756,KIAA2013,634,Uncharacterized protein KIAA2013; KIAA2013. 9606.ENSP00000365757,PIP4K2A,406,"Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha; Catalyzes the phosphorylation of phosphatidylinositol 5- phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of [...] " 9606.ENSP00000365770,MTHFR,697,"Methylenetetrahydrofolate reductase; Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine." 9606.ENSP00000365773,PSAT1,370,Phosphoserine aminotransferase; Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily. 9606.ENSP00000365782,CEP78,722,Centrosomal protein of 78 kDa; May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles. May play a role in cilium biogenesis. 9606.ENSP00000365804,HDAC6,1215,"Histone deacetylase 6; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. In addition to histones, deacetylates other proteins: plays a central role in microtubule-dependent cell motility by mediating deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation [...] " 9606.ENSP00000365806,GNL1,607,Guanine nucleotide-binding protein-like 1; Possible regulatory or functional link with the histocompatibility cluster. 9606.ENSP00000365807,GNA14,355,Guanine nucleotide-binding protein subunit alpha-14; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. 9606.ENSP00000365811,SPAG6,509,Sperm-associated antigen 6; Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility. 9606.ENSP00000365817,HLA-E,358,"Soluble HLA class I histocompatibility antigen, alpha chain E; Non-classical major histocompatibility class Ib molecule involved in immune self-nonself discrimination. In complex with B2M/beta-2-microglobulin binds nonamer self-peptides derived from the signal sequence of classical MHC class Ia molecules (VL9 peptides). Peptide-bound HLA- E-B2M heterotrimeric complex primarily functions as a ligand for natural killer (NK) cell inhibitory receptor KLRD1-KLRC1, enabling NK cells to monitor the expression of other MHC class I molecules in healthy cells and to tolerate self. Upon cellular [...] " 9606.ENSP00000365830,SOWAHC,525,Ankyrin repeat domain-containing protein SOWAHC; Sosondowah ankyrin repeat domain family member C; Belongs to the SOWAH family. 9606.ENSP00000365837,PUS1,427,tRNA pseudouridine synthase A; Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 RNA; Belongs to the tRNA pseudouridine synthase TruA family. 9606.ENSP00000365838,DPRX,191,Divergent paired-related homeobox; Putative transcription factor; Belongs to the paired homeobox family. 9606.ENSP00000365840,ENTPD6,484,"Ectonucleoside triphosphate diphosphohydrolase 6; Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5'- diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5'-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity); Belongs to the GDA1/CD39 NTPase family." 9606.ENSP00000365844,TRIM39,518,"E3 ubiquitin-protein ligase TRIM39; [Isoform 1]: E3 ubiquitin-protein ligase. May facilitate apoptosis by inhibiting APC/C-Cdh1-mediated poly- ubiquitination and subsequent proteasome-mediated degradation of the pro-apoptotic protein MOAP1. Regulates the G1/S transition of the cell cycle and DNA damage-induced G2 arrest by stabilizing CDKN1A/p21. Positively regulates CDKN1A/p21 stability by competing with DTL for CDKN1A/p21 binding, therefore disrupting DCX(DTL) E3 ubiquitin ligase complex- mediated CDKN1A/p21 ubiquitination and degradation." 9606.ENSP00000365851,BMI1,326,"Polycomb complex protein BMI-1; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A. In the PRC1-like complex, regulates the E3 ub [...] " 9606.ENSP00000365858,GATA1,413,"Erythroid transcription factor; Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS." 9606.ENSP00000365861,MBNL2,373,"Muscleblind-like protein 2; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expr [...] " 9606.ENSP00000365883,NUDT8,236,Nucleoside diphosphate-linked moiety X motif 8; Probably mediates the hydrolysis of some nucleoside diphosphate derivatives. 9606.ENSP00000365884,TRIM15,465,Tripartite motif containing 15; Belongs to the TRIM/RBCC family. 9606.ENSP00000365891,WAS,502,"Wiskott-Aldrich syndrome protein; Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria. In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. Promotes homologous recombination (HR) r [...] " 9606.ENSP00000365895,HS6ST3,471,Heparan-sulfate 6-O-sulfotransferase 3; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. 9606.ENSP00000365898,FOXB2,432,Forkhead box protein B2; Transcription factor. 9606.ENSP00000365899,VSX1,365,Visual system homeobox 1; Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development. Dispensable in early retinal development (By similarity); Belongs to the paired homeobox family. 9606.ENSP00000365908,PRUNE2,3088,"Protein prune homolog 2; May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells." 9606.ENSP00000365919,WDR13,485,WD repeat domain 13. 9606.ENSP00000365924,TRIM31,425,E3 ubiquitin-protein ligase TRIM31; Regulator of Src-induced anchorage independent cell growth (By similarity). May have E3 ubiquitin-protein ligase activity. Belongs to the TRIM/RBCC family. 9606.ENSP00000365926,RFK,155,"Riboflavin kinase; Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF- activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase." 9606.ENSP00000365931,SP2,613,Transcription factor Sp2; Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites. 9606.ENSP00000365938,UGGT2,1516,"UDP-glucose:glycoprotein glucosyltransferase 2; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation. Belongs to the glycosyltransferase 8 family." 9606.ENSP00000365944,FBXO6,293,"F-box only protein 6; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high- mannose but also complex-type oligosaccharides. Also recognizes sulfated glycans. Also involved i [...] " 9606.ENSP00000365950,RBM3,157,"RNA-binding protein 3; Cold-inducible mRNA binding protein that enhances global protein synthesis at both physiological and mild hypothermic temperatures. Reduces the relative abundance of microRNAs, when overexpressed. Enhances phosphorylation of translation initiation factors and active polysome formation (By similarity)." 9606.ENSP00000365959,FBXO44,256,"cDNA FLJ50458, highly similar to Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA; F-box protein 44." 9606.ENSP00000365962,TBC1D25,688,"TBC1 domain family member 25; Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes." 9606.ENSP00000365963,PPP1R11,126,"E3 ubiquitin-protein ligase PPP1R11; Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at 'Lys-754' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2. Inhibitor of protein phosphatase 1." 9606.ENSP00000366006,UBIAD1,338,"UbiA prenyltransferase domain-containing protein 1; Prenyltransferase that mediates the formation of menaquinone- 4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independe [...] " 9606.ENSP00000366007,NMRK1,203,Nicotinamide riboside kinase 1; Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine. Belongs to the uridine kinase family. NRK subfamily. 9606.ENSP00000366015,ANGPTL7,346,"Angiopoietin-related protein 7; Has a role in the formation and organization of the extracellular matrix. In the eye, it functions as a mediator of dexamethasone-induced matrix deposition in the trabecular meshwork, the tissue responsible for the outflow of the ocular aqueous humor and for the maintenance of intraocular pressure. Is a negative regulator of angiogenesis in the cornea, and plays a major role in maintaining corneal avascularity and transparency." 9606.ENSP00000366024,HLA-G,343,"Soluble HLA class I histocompatibility antigen, alpha chain G; [Isoform 1]: Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface. In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins. Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal- fetal tolerance. Upon [...] " 9606.ENSP00000366030,CARNMT1,409,"Carnosine N-methyltransferase; N-methyltransferase that catalyzes the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His)." 9606.ENSP00000366032,COMMD3,195,COMM domain-containing protein 3; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF- kappa-B. Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride- sensitive sodium channel (ENaC) subunits. 9606.ENSP00000366047,KLK6,244,"Kallikrein-6; Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neu [...] " 9606.ENSP00000366050,C9orf40,194,Uncharacterized protein C9orf40; Chromosome 9 open reading frame 40. 9606.ENSP00000366058,SYNDIG1,258,"Synapse differentiation-inducing gene protein 1; May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation; Belongs to the CD225/Dispanin family." 9606.ENSP00000366061,NMS,153,Neuromedin-S; Implicated in the regulation of circadian rhythms through autocrine and/or paracrine actions; Belongs to the NmU family. 9606.ENSP00000366070,RILPL1,403,"RILP-like protein 1; Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus (By similarity). Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution. Binds to RAB10 following LRRK2-mediated RAB10 phosphorylation which leads to inhibition of ciliogenesis. ECO:0000250|UniPro [...] " 9606.ENSP00000366091,MOG,295,Myelin-oligodendrocyte glycoprotein; Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication. Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000366093,RORB,459,"Nuclear receptor ROR-beta; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated p [...] " 9606.ENSP00000366098,YIF1A,293,Protein YIF1A; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the YIF1 family. 9606.ENSP00000366109,ANXA1,346,Annexin A1; Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity. Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (By similarity). Promotes resolution of inflammation and wound healing. Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades. Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors. Contributes to the adapti [...] 9606.ENSP00000366118,SSX1,188,Protein SSX1; Could act as a modulator of transcription; Belongs to the SSX family. 9606.ENSP00000366135,EXOSC10,885,"Exosome component 10; Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. [...] " 9606.ENSP00000366144,SOX21,276,Transcription factor SOX-21; May play a role as an activator of transcription of OPRM1. 9606.ENSP00000366153,ZNF81,661,Zinc finger protein 81; May be involved in transcriptional regulation. 9606.ENSP00000366156,SRM,302,"Spermidine synthase; Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3- diaminopropane. Has extremely low activity towards spermidine." 9606.ENSP00000366157,GPR180,440,Integral membrane protein GPR180; G protein-coupled receptor 180. 9606.ENSP00000366161,ZFAND5,213,"AN1-type zinc finger protein 5; Involved in protein degradation via the ubiquitin-proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4-induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent [...] " 9606.ENSP00000366170,CST9,159,"Cystatin-9; May be involved in testis development (By similarity). May play a role in hematopoietic differentiation or inflammation. Has immunomodulatory and antimicrobial functions against Francisella tularensis, a Gram-negative bacteria ; Belongs to the cystatin family." 9606.ENSP00000366173,CBY3,242,Chibby family member 3. 9606.ENSP00000366178,CST9L,147,Cystatin-9-like; Cystatin 9 like; Belongs to the cystatin family. 9606.ENSP00000366179,DNAJC1,554,DnaJ homolog subfamily C member 1; May modulate protein synthesis. 9606.ENSP00000366182,ELK1,428,ETS domain-containing protein Elk-1; Transcription factor that binds to purine-rich DNA sequences. Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2. Induces target gene transcription upon JNK- signaling pathway stimulation (By similarity). 9606.ENSP00000366203,C1orf127,823,Uncharacterized protein C1orf127; Chromosome 1 open reading frame 127. 9606.ENSP00000366208,CST11,138,Cystatin-11; Has antibacterial activity against the Gram-negative bacteria E.coli. May play a role in sperm maturation and fertilization. Belongs to the cystatin family. 9606.ENSP00000366221,CASZ1,1759,Zinc finger protein castor homolog 1; Transcriptional activator. Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7. 9606.ENSP00000366223,C9orf57,161,Uncharacterized protein C9orf57; Chromosome 9 open reading frame 57. 9606.ENSP00000366233,GABBR1,961,"Gamma-aminobutyric acid type B receptor subunit 1; Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-depend [...] " 9606.ENSP00000366234,IL31,164,Interleukin-31; Activates STAT3 and possibly STAT1 and STAT5 through the IL31 heterodimeric receptor composed of IL31RA and OSMR. May function in skin immunity. Enhances myeloid progenitor cell survival in vitro (By similarity). Induces RETNLA and serum amyloid A protein expression in macrophages (By similarity). 9606.ENSP00000366237,DFFA,331,DNA fragmentation factor subunit alpha; Inhibitor of the caspase-activated DNase (DFF40). 9606.ENSP00000366240,ABHD17B,293,Alpha/beta hydrolase domain-containing protein 17B; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards DLG4/PSD95. Has depalmitoylating activity towards GAP43 (By similarity). Has depalmitoylating activity towards MAP6 (By similarity). Has depalmitoylating activity towards NRAS ; Belongs to the AB hydrolase superfamily. ABHD17 family. 9606.ENSP00000366243,CEMIP2,1383,"Cell surface hyaluronidase; Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate- size hyaluronan of approximately 5 kDa fragments. Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate." 9606.ENSP00000366246,GPC6,555,"Secreted glypican-6; Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling. Belongs to the glypican family." 9606.ENSP00000366248,CORT,105,Cortistatin-17; Binds to all human somatostatin receptor (SSTR) subtypes. It also inhibits cAMP production induced by forskolin through SSTRs; Belongs to the somatostatin family. 9606.ENSP00000366249,UBD,165,"Ubiquitin D; Ubiquitin-like protein modifier which can be covalently attached to target protein and subsequently leads to their degradation by the 26S proteasome, in a NUB1-dependent manner. Probably functions as a survival factor. Conjugation ability activated by UBA6. Promotes the expression of the proteasome subunit beta type-9 (PSMB9/LMP2). Regulates TNF-alpha-induced and LPS-mediated activation of the central mediator of innate immunity NF-kappa-B by promoting TNF-alpha-mediated proteasomal degradation of ubiquitinated-I-kappa-B-alpha. Required for TNF-alpha-induced p65 nuclear tr [...] " 9606.ENSP00000366265,ZNF41,779,Zinc finger protein 41; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000366267,GPC5,572,Secreted glypican-5; Cell surface proteoglycan that bears heparan sulfate. Belongs to the glypican family. 9606.ENSP00000366271,KDM2B,1336,"Lysine-specific demethylase 2B; Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation. May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin liga [...] " 9606.ENSP00000366273,ZNF157,506,Zinc finger protein 157; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000366275,CNNM4,775,Metal transporter CNNM4; Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function. 9606.ENSP00000366280,LMAN2L,359,VIP36-like protein; May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53. 9606.ENSP00000366283,SLITRK5,958,SLIT and NTRK-like protein 5; Suppresses neurite outgrowth; Belongs to the SLITRK family. 9606.ENSP00000366288,SLITRK1,696,SLIT and NTRK-like protein 1; It is involved in synaptogenesis and promotes excitatory synapse differentiation. Enhances neuronal dendrite outgrowth. 9606.ENSP00000366299,SLC25A39,359,Solute carrier family 25 member 39; Required for normal heme biosynthesis; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000366306,SPRY2,315,Protein sprouty homolog 2; May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis. Belongs to the sprouty family. 9606.ENSP00000366307,THBD,575,"Thrombomodulin; Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated." 9606.ENSP00000366314,TRPM3,1707,"Transient receptor potential cation channel subfamily M member 3; Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation. Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily." 9606.ENSP00000366326,NEBL,1014,Nebulette; Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres. Isoform 2 might play a role in the assembly of focal adhesion. 9606.ENSP00000366330,KLF9,244,Krueppel-like factor 9; Transcription factor that binds to GC box promoter elements. Selectively activates mRNA synthesis from genes containing tandem repeats of GC boxes but represses genes with a single GC box. Acts as an epidermal circadian transcription factor regulating keratinocyte proliferation ; Belongs to the Sp1 C2H2-type zinc-finger protein family. 9606.ENSP00000366331,MAS1L,378,"Mas-related G-protein coupled receptor MRG; MAS1 proto-oncogene like, G protein-coupled receptor." 9606.ENSP00000366340,OR2H1,316,Olfactory receptor 2H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000366347,NKX2-2,273,"Homeobox protein Nkx-2.2; Transcriptional activator involved in the development of insulin-producting beta cells in the endocrine pancreas (By similarity). May also be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Binds to elements within the NEUROD1 promoter (By similarity); Belongs to the NK-2 homeobox family." 9606.ENSP00000366354,OR11A1,315,Olfactory receptor 11A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000366378,OR2B3,313,Putative olfactory receptor 2B3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000366380,OR2W1,320,Olfactory receptor 2W1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000366384,ZNF311,666,Zinc finger protein 311; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000366387,MAMDC2,686,MAM domain containing 2. 9606.ENSP00000366390,SPDYC,293,"Speedy protein C; Promotes progression through the cell cycle via binding and activation of CDK1 and CDK2. Involved in the spindle-assembly checkpoint. Required for recruitment of MAD2L1, BUBR1 and BUB1 to kinetochores. Required for the correct localization of the active form of Aurora B in prometaphase." 9606.ENSP00000366395,SYVN1,617,"E3 ubiquitin-protein ligase synoviolin; Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the endoplasmic reticulum quality control (ERQC) system also called ER- associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from [...] " 9606.ENSP00000366396,XRN2,950,"5'-3' exoribonuclease 2; Possesses 5'->3' exoribonuclease activity (By similarity). May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5' fragment which is subsequently processed to form the mature mRNA and a 3' fragment which remains attached to the elongating polymerase. The processive degradation of this 3' fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G- rich pause sites. Belongs to t [...] " 9606.ENSP00000366402,C9orf135,229,Protein C9orf135; Chromosome 9 open reading frame 135. 9606.ENSP00000366404,TRIM27,513,"Zinc finger protein RFP; E3 ubiquitin-protein ligase that mediates ubiquitination of PIK3C2B and inhibits its activity; mediates the formation of 'Lys-48'- linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly. Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspas [...] " 9606.ENSP00000366410,NMNAT1,279,"Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less [...] " 9606.ENSP00000366413,POU4F1,419,"POU domain, class 4, transcription factor 1; Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'- ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects ne [...] " 9606.ENSP00000366416,EDNRB,532,"Endothelin receptor type B; Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily." 9606.ENSP00000366430,LZIC,190,Protein LZIC; Leucine zipper and CTNNBIP1 domain containing. 9606.ENSP00000366452,SNX15,342,Sorting nexin-15; May be involved in several stages of intracellular trafficking. Overexpression of SNX15 disrupts the normal trafficking of proteins from the plasma membrane to recycling endosomes or the TGN. 9606.ENSP00000366460,PLXDC2,529,Plexin domain-containing protein 2; May play a role in tumor angiogenesis. Belongs to the plexin family. 9606.ENSP00000366465,ZKSCAN3,538,"Zinc finger protein with KRAB and SCAN domains 3; Transcriptional factor that binds to the consensus sequence 5'-[GT][AG][AGT]GGGG-3' and acts as a repressor of autophagy. Specifically represses expression of genes involved in autophagy and lysosome biogenesis/function such as MAP1LC3B, ULK1 or WIPI2. Associates with chromatin at the ITGB4 and VEGF promoters. Also acts as a transcription activator and promotes cancer cell progression and/or migration in various tumors and myelomas." 9606.ENSP00000366474,CTNNBIP1,81,"Beta-catenin-interacting protein 1; Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway. Belongs to the CTNNBIP1 family." 9606.ENSP00000366475,ATG2A,1938,"Autophagy-related protein 2 homolog A; Involved in autophagosome assembly, regulating the size of nascent autophagosomes. Also regulates lipid droplets morphology and distribution within the cell." 9606.ENSP00000366487,ARL5B,179,ADP-ribosylation factor-like protein 5B; Binds and exchanges GTP and GDP. 9606.ENSP00000366488,PRKACG,351,cAMP-dependent protein kinase catalytic subunit gamma; Phosphorylates a large number of substrates in the cytoplasm and the nucleus. 9606.ENSP00000366506,HRH2,397,"Histamine H2 receptor; The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity); Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000366509,ZKSCAN4,545,Zinc finger protein with KRAB and SCAN domains 4; May be involved in the transcriptional activation of MDM2 and EP300 genes; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000366513,CLSTN1,981,"Soluble Alc-alpha; Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent tran [...] " 9606.ENSP00000366519,NSUN6,469,"tRNA (cytosine(72)-C(5))-methyltransferase NSUN6; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA). In vitro also methylates tRNA(Thr)(AGT). Methylation requires, in the acceptor stem region, the presence of the 3'-CCA terminus, the target site C72, the discriminator base U73, and the second and third base pairs (2:71 and 3:70) in the tRNA substrates ; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family." 9606.ENSP00000366522,ARHGAP39,1114,Rho GTPase activating protein 39. 9606.ENSP00000366525,FTL,175,"Ferritin light chain; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity); Belongs to the ferritin family." 9606.ENSP00000366527,ZSCAN16,348,Zinc finger and SCAN domain-containing protein 16; May be involved in transcriptional regulation. 9606.ENSP00000366528,TMEM252,170,Transmembrane protein 252. 9606.ENSP00000366534,FOXH1,365,Forkhead box protein H1; Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element). 9606.ENSP00000366542,ZNF165,485,Zinc finger protein 165; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000366557,CRNKL1,848,Crooked neck-like protein 1; Involved in pre-mRNA splicing process. Belongs to the crooked-neck family. 9606.ENSP00000366563,PIK3CD,1044,"Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell recepto [...] " 9606.ENSP00000366565,VPS28,233,"Vacuolar protein sorting-associated protein 28 homolog; Component of the ESCRT-I complex, a regulator of vesicular trafficking process." 9606.ENSP00000366582,INSYN2B,535,Protein INSYN2B; Inhibitory synaptic factor family member 2B; Belongs to the INSYN2 family. 9606.ENSP00000366586,SLC39A12,691,Zinc transporter ZIP12; Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia; Belongs to the ZIP transporter (TC 2.A.5) family. 9606.ENSP00000366604,SF1,673,Splicing factor 1; Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor. 9606.ENSP00000366608,CBWD6,395,COBW domain containing 6; Belongs to the SIMIBI class G3E GTPase family. CobW subfamily. 9606.ENSP00000366617,CBWD1,395,COBW domain containing 1. 9606.ENSP00000366618,H2BC13,126,"Histone H2B type 1-L; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000366628,GPR157,335,G-protein coupled receptor 157; Orphan receptor that promotes neuronal differentiation of radial glial progenitors (RGPs). The activity of this receptor is mediated by a G(q)-protein that activates a phosphatidylinositol- calcium second messenger; Belongs to the G-protein coupled receptor 2 family. 9606.ENSP00000366630,FOXD4L4,416,Forkhead box D4 like 4. 9606.ENSP00000366637,FOXD4L5,416,Forkhead box D4 like 5. 9606.ENSP00000366641,SLC2A5,501,"Solute carrier family 2, facilitated glucose transporter member 5; Functions as a fructose transporter that has only low activity with other monosaccharides. Can mediate the uptake of 2-deoxyglucose, but with low efficiency. Essential for fructose uptake in the small intestine (By similarity). Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose (By similarity). Required for the development of high blood pressure in response to high dietary fructose intake (By similarity)." 9606.ENSP00000366645,SCP2D1,156,SCP2 sterol-binding domain-containing protein 1; SCP2 sterol binding domain containing 1. 9606.ENSP00000366654,CA6,313,Carbonic anhydrase 6; Reversible hydration of carbon dioxide. Its role in saliva is unknown. 9606.ENSP00000366679,H2AC12,128,H2A clustered histone 12. 9606.ENSP00000366682,ACOD1,481,Cis-aconitate decarboxylase; Involved in the inhibition of the inflammatory response. Acts as a negative regulator of the Toll-like receptors (TLRs)-mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages. Involved in antimicrobial response of innate immune cells; ACOD1-mediated itaconic acid production contributes to the antimicrobial activity of macrophages. Plays a role in the embryo implantation. 9606.ENSP00000366690,SPATC1,591,Speriolin; Spermatogenesis and centriole associated 1; Belongs to the speriolin family. 9606.ENSP00000366694,KCTD12,325,BTB/POZ domain-containing protein KCTD12; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). 9606.ENSP00000366702,ERRFI1,462,"ERBB receptor feedback inhibitor 1; Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus [...] " 9606.ENSP00000366715,TMEM236,351,Transmembrane protein 236. 9606.ENSP00000366746,STAM,540,"Signal transducing adapter molecule 1; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes." 9606.ENSP00000366748,AUP1,410,Ancient ubiquitous protein 1; May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome; Belongs to the AUP1 family. 9606.ENSP00000366757,LMO7,1631,LIM domain 7. 9606.ENSP00000366783,HECTD4,4416,Probable E3 ubiquitin-protein ligase HECTD4; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. 9606.ENSP00000366789,LBX2,198,Transcription factor LBX2; Putative transcription factor. 9606.ENSP00000366797,SLC22A12,553,Solute carrier family 22 member 12; Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000366798,HMGN4,90,High mobility group nucleosomal binding domain 4; Belongs to the HMGN family. 9606.ENSP00000366800,DNAJC11,559,DnaJ homolog subfamily C member 11; [Isoform 1]: Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex; Belongs to the DNAJC11 family. 9606.ENSP00000366819,UCHL3,230,"Ubiquitin carboxyl-terminal hydrolase isozyme L3; Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO [...] " 9606.ENSP00000366826,ANKRD20A2,823,Ankyrin repeat domain-containing protein 20A2. 9606.ENSP00000366827,ST8SIA6,398,"Alpha-2,8-sialyltransferase 8F; Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)- Gal sequence at the non-reducing end of their carbohydrate groups (By similarity)." 9606.ENSP00000366828,POLR3F,316,"DNA-directed RNA polymerase III subunit RPC6; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct RNA Pol III binding to the TFIIIB-DNA complex. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRN [...] " 9606.ENSP00000366863,TBC1D4,1298,"TBC1 domain family member 4; May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake." 9606.ENSP00000366876,PHF13,300,PHD finger protein 13; Modulates chromatin structure. Required for normal chromosome condensation during the early stages of mitosis. Required for normal chromosome separation during mitosis. 9606.ENSP00000366886,KLHL21,597,Kelch-like protein 21; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for efficient chromosome alignment and cytokinesis. The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. Ubiquitination of AURKB by BCR(KLHL21) E3 ubiquitin ligase complex may not lead to its degradation by the proteasome. 9606.ENSP00000366897,KLF12,402,Krueppel-like factor 12; Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter. 9606.ENSP00000366898,HIF3A,669,Hypoxia-inducible factor 3-alpha; Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression. Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. Plays a role in the development of the cardiorespiratory system. May also be involved in apoptosis (By similarity). [Isoform 3]: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional ac [...] 9606.ENSP00000366901,FAM216A,273,Protein FAM216A; Family with sequence similarity 216 member A; Belongs to the FAM216 family. 9606.ENSP00000366902,ZBTB48,688,"Telomere zinc finger-associated protein; Telomere-binding protein that acts as a regulator of telomere length. Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat. Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres. Also acts as a transcription regulator that binds to promoter regions. Regulates expression of a small subset of genes, including MTFP1. Regulates expression the J and/or S elements i [...] " 9606.ENSP00000366915,KLF5,457,Krueppel-like factor 5; Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000366923,IGFBPL1,278,Insulin-like growth factor-binding protein-like 1; IGF-binding proteins prolong the half-life of IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs in cell culture. They alter the interaction of IGFs with their cell surface receptors (By similarity). May be a putative tumor suppressor protein. 9606.ENSP00000366926,IGFL4,124,IGF like family member 4; Belongs to the IGFL family. 9606.ENSP00000366927,ALDH1B1,517,"Aldehyde dehydrogenase X, mitochondrial; ALDHs play a major role in the detoxification of alcohol- derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation." 9606.ENSP00000366934,NOL9,702,"Polynucleotide 5'-hydroxyl-kinase NOL9; Polynucleotide 5'-kinase involved in rRNA processing. The kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. In vitro, has both DNA and RNA 5'-kinase activities. Probably binds RNA; Belongs to the Clp1 family. NOL9/GRC3 subfamily." 9606.ENSP00000366936,SHB,509,"SH2 domain-containing adapter protein B; Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin- producing cells." 9606.ENSP00000366937,BTN3A2,334,Butyrophilin subfamily 3 member A2; Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells. Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000366939,MGME1,344,"Mitochondrial genome maintenance exonuclease 1; Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA- primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5- h [...] " 9606.ENSP00000366942,SLC36A3,511,Proton-coupled amino acid transporter 3; Solute carrier family 36 member 3. 9606.ENSP00000366945,SLC25A51,297,Solute carrier family 25 member 51. 9606.ENSP00000366950,KRTAP9-2,174,"Keratin-associated protein 9-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000366953,DCAF10,559,DDB1- and CUL4-associated factor 10; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; Belongs to the WD repeat DCAF10 family. 9606.ENSP00000366955,KRTAP4-2,136,Keratin associated protein 4-2. 9606.ENSP00000366962,H2BC10,126,H2B clustered histone 10. 9606.ENSP00000366970,GPR20,358,G-protein coupled receptor 20; Orphan receptor with constitutive G(i) signaling activity that activate cyclic AMP. 9606.ENSP00000366974,H4C2,103,H4 clustered histone 2. 9606.ENSP00000366976,KRTAP1-4,121,"Keratin-associated protein 1-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000366984,KRT40,431,"Keratin, type I cytoskeletal 40; May play a role in late hair differentiation; Belongs to the intermediate filament family." 9606.ENSP00000366997,DIS3,958,"Exosome complex exonuclease RRP44; Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to t [...] " 9606.ENSP00000366998,SNX5,404,"Sorting nexin-5; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). Acts in part as component of the retromer membrane- deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called e [...] " 9606.ENSP00000366999,H3C4,136,H3 clustered histone 4. 9606.ENSP00000367001,DPP6,865,Dipeptidyl aminopeptidase-like protein 6; Promotes cell surface expression of the potassium channel KCND2. Modulates the activity and gating characteristics of the potassium channel KCND2. Has no dipeptidyl aminopeptidase activity. 9606.ENSP00000367013,TNFRSF25,426,Tumor necrosis factor receptor superfamily member 25; Receptor for TNFSF12/APO3L/TWEAK. Interacts directly with the adapter TRADD. Mediates activation of NF-kappa-B and induces apoptosis. May play a role in regulating lymphocyte homeostasis. 9606.ENSP00000367022,H2AC6,130,"Histone H2A type 1-C; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000367024,NAA40,237,"N-alpha-acetyltransferase 40; N-alpha-acetyltransferase that specifically mediates the acetylation of the N-terminal residues of histones H4 and H2A. In contrast to other N-alpha- acetyltransferase, has a very specific selectivity for histones H4 and H2A N-terminus and specifically recognizes the 'Ser-Gly-Arg-Gly sequence'. Acts as a negative regulator of apoptosis. May play a role in hepatic lipid metabolism (By similarity). Belongs to the acetyltransferase family. NAA40 subfamily." 9606.ENSP00000367028,TCOF1,1488,"Treacle protein; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification." 9606.ENSP00000367029,POLR1E,419,DNA-directed RNA polymerase I subunit RPA49; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF. Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family. 9606.ENSP00000367030,TRDMT1,391,tRNA (cytosine(38)-C(5))-methyltransferase; Specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp). 9606.ENSP00000367032,PLCXD3,321,PI-PLC X domain-containing protein 3; Phosphatidylinositol specific phospholipase C X domain containing 3. 9606.ENSP00000367034,H4C3,103,H4 clustered histone 3. 9606.ENSP00000367038,RRBP1,977,Ribosome binding protein 1. 9606.ENSP00000367049,MZT1,82,Mitotic-spindle organizing protein 1; Required for gamma-tubulin complex recruitment to the centrosome; Belongs to the MOZART1 family. 9606.ENSP00000367050,RTN3,1032,"Reticulon-3; May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. In case of enteroviruses infection, RTN3 may be involved in the viral replication or pathogenesis. Induces the formation of endoplasmic reticulum tubules." 9606.ENSP00000367064,CUBN,3623,"Cubilin; Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake. Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex. Binds to ALB, MB, Kappa and lambda- light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal [...] " 9606.ENSP00000367065,HES2,173,Transcription factor HES-2; Transcriptional repressor of genes that require a bHLH protein for their transcription. 9606.ENSP00000367069,ZFAT,1243,Zinc finger protein ZFAT; May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity). 9606.ENSP00000367075,KLHL1,748,Kelch-like protein 1; May play a role in organizing the actin cytoskeleton of the brain cells. 9606.ENSP00000367081,SLC17A2,478,Sodium-dependent phosphate transport protein 3; May be involved in actively transporting phosphate into cells via Na(+) cotransport; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. 9606.ENSP00000367086,ACOT7,380,"Cytosolic acyl coenzyme A thioester hydrolase; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Acyl-coenzyme A thioesterase 7/ACOT7 preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18. May play an important physiological function in brain." 9606.ENSP00000367096,PCDH9,1237,Protocadherin-9; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000367102,SLC22A6,563,"Solute carrier family 22 member 6; Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1- propanesulfonic acid (DMPS) (By similarity). Mediates the sodium- independent uptake of p-aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3'-azido-3-'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro-phenoxyacetate [...] " 9606.ENSP00000367104,BFSP1,665,"Filensin C-terminal fragment; Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Involved in altering the calcium regulation of MIP water permeability." 9606.ENSP00000367123,SLC3A2,631,"4F2 cell-surface antigen heavy chain; Component of several heterodimeric amino acid transporter complexes. The precise substrate specificity depends on the other subunit in the heterodimer. The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan. The complexes with SLC7A6 and SLC7A7 mediate uptake of dibasic amino acids. The complexes function as amino acid exchangers. Required for targeting of SLC7A5 and SLC7A8 to the p [...] " 9606.ENSP00000367125,GPR153,609,Probable G-protein coupled receptor 153; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000367130,HES3,186,Transcription factor HES-3; Transcriptional repressor of genes that require a bHLH protein for their transcription. 9606.ENSP00000367137,SLC17A4,497,"Probable small intestine urate exporter; Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro). Belongs to the major facilitator superfamily. Sodium/anion cotransporter family." 9606.ENSP00000367139,SPINK9,86,Serine protease inhibitor Kazal-type 9; Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5. 9606.ENSP00000367151,PCDH17,1159,Protocadherin-17; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000367154,RSU1,277,Ras suppressor protein 1; Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro. 9606.ENSP00000367157,LRRC3C,275,Leucine-rich repeat-containing protein 3C; Leucine rich repeat containing 3C. 9606.ENSP00000367163,PRR20B,221,Proline-rich protein 20A; Proline rich 20B; Belongs to the PRR20 family. 9606.ENSP00000367164,PRR20A,221,Proline rich 20A. 9606.ENSP00000367173,RNF207,634,"RING finger protein 207; Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner." 9606.ENSP00000367177,PCDH8,1070,"Protocadherin-8; Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity)." 9606.ENSP00000367185,LYPD5,251,LY6/PLAUR domain containing 5. 9606.ENSP00000367193,FBXO48,155,F-box protein 48. 9606.ENSP00000367196,GLIPR2,154,Golgi-associated plant pathogenesis-related protein 1; GLI pathogenesis related 2. 9606.ENSP00000367197,SCGN,276,"Secretagogin, EF-hand calcium binding protein." 9606.ENSP00000367198,CNMD,334,Leukocyte cell-derived chemotaxin 1; Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization. 9606.ENSP00000367202,RECK,971,"Reversion-inducing cysteine-rich protein with Kazal motifs; Functions together with ADGRA2 to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B). Plays a key role in Wnt7-specific responses: required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling by decoding Wnt ligands: acts by interacting specifically with the disordered linker region of Wnt7, thereby conferring ligand selectivity for Wnt7. ADGRA2 is then required to deliver RECK-bound [...] " 9606.ENSP00000367203,KDM6A,1401,"Lysine-specific demethylase 6A; Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. Plays a demethylase-independent role in chromatin remodeling to regulate T [...] " 9606.ENSP00000367208,SUGT1,365,Protein SGT1 homolog; May play a role in ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000367214,GRXCR2,248,Glutaredoxin domain-containing cysteine-rich protein 2; Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection. 9606.ENSP00000367219,OR13J1,312,Olfactory receptor 13J1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000367220,ACTR2,399,"Actin-related protein 2; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the pointed end of the daughter actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promote [...] " 9606.ENSP00000367229,CEP68,757,"Centrosomal protein of 68 kDa; Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting. Required for localization of CDK5RAP2 to the centrosome during interphase." 9606.ENSP00000367230,TMEM8B,472,"Transmembrane protein 8B; May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion; Belongs to the TMEM8 family." 9606.ENSP00000367239,PTER,349,Phosphotriesterase-related protein; Phosphotriesterase related; Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family. 9606.ENSP00000367263,AHNAK,5890,Neuroblast differentiation-associated protein AHNAK; May be required for neuronal cell differentiation. 9606.ENSP00000367265,CKAP4,602,Cytoskeleton-associated protein 4; High-affinity epithelial cell surface receptor for APF. 9606.ENSP00000367276,CKAP2,683,"Cytoskeleton-associated protein 2; Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53- dependent manner (By similarity)." 9606.ENSP00000367284,FUNDC1,155,"FUN14 domain-containing protein 1; Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control." 9606.ENSP00000367299,VPS36,386,"Vacuolar protein-sorting-associated protein 36; Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may a [...] " 9606.ENSP00000367300,ZNF425,752,Zinc finger protein 425; Acts as a transcriptional repressor. 9606.ENSP00000367309,MAOB,520,Amine oxidase [flavin-containing] B; Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine; Belongs to the flavin monoamine oxidase family. 9606.ENSP00000367312,SEL1L2,575,Protein sel-1 homolog 2; SEL1L2 adaptor subunit of ERAD E3 ligase; Belongs to the sel-1 family. 9606.ENSP00000367315,LRRC10B,292,Leucine-rich repeat-containing protein 10B; Leucine rich repeat containing 10B. 9606.ENSP00000367316,ITGA8,1063,"Integrin alpha-8 heavy chain; Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons." 9606.ENSP00000367318,RGP1,391,"RAB6A-GEF complex partner protein 2; The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors." 9606.ENSP00000367319,FBXO47,452,F-box only protein 47; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. 9606.ENSP00000367323,KCNAB2,415,"Voltage-gated potassium channel subunit beta-2; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore. Promotes KCNA4 channel closure. Modulates the functional properties of KCNA5 [...] " 9606.ENSP00000367330,C12orf73,71,Uncharacterized protein C12orf73; Chromosome 12 open reading frame 73. 9606.ENSP00000367343,GBA2,927,"Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramide (GlcCer) to free glucose and ceramide. Glucosylceramides are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Also involved in the transglucosylation of cholesterol, transferring glucose from glucosylceramides, thereby modifying its [...] " 9606.ENSP00000367346,NDUFAF5,345,"Arginine-hydroxylase NDUFAF5, mitochondrial; Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT- ND1) at early stages. Acts by mediating hydroxylation of 'Arg-111' of NDUFS7. May also have methyltransferase activity (Probable)." 9606.ENSP00000367353,C12orf42,360,Uncharacterized protein C12orf42; Chromosome 12 open reading frame 42. 9606.ENSP00000367355,ARHGEF35,484,Rho guanine nucleotide exchange factor 35. 9606.ENSP00000367356,FAM171A1,890,"Protein FAM171A1; Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation. Belongs to the FAM171 family." 9606.ENSP00000367359,C6orf62,229,Uncharacterized protein C6orf62; Chromosome 6 open reading frame 62. 9606.ENSP00000367384,GPR34,381,Probable G-protein coupled receptor 34; Orphan receptor. 9606.ENSP00000367391,PGA4,388,"Pepsin A-4; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent." 9606.ENSP00000367398,NPHP4,1426,Nephrocystin-4; Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subce [...] 9606.ENSP00000367406,TAF2,1199,Transcription initiation factor TFIID subunit 2; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter. 9606.ENSP00000367407,NMT2,498,Glycylpeptide N-tetradecanoyltransferase 2; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins; Belongs to the NMT family. 9606.ENSP00000367428,MS4A13,152,Membrane-spanning 4-domains subfamily A member 13; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000367429,ERICH4,130,Glutamate-rich protein 4; Glutamate rich 4. 9606.ENSP00000367433,AJAP1,411,Adherens junction-associated protein 1; Plays a role in cell adhesion and cell migration. 9606.ENSP00000367440,TDP2,362,"Tyrosyl-DNA phosphodiesterase 2; DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead- end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DNA double-strand breaks/DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'- phosphate termini that are ready for ligation. Thereby, protects the transcription of [...] " 9606.ENSP00000367446,EXT1,746,"Exostosin-1; Glycosyltransferase required for the biosynthesis of heparan- sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan." 9606.ENSP00000367453,ACBD7,88,Acyl-CoA-binding domain-containing protein 7; Binds medium- and long-chain acyl-CoA esters. 9606.ENSP00000367459,KIAA0319,1072,Dyslexia-associated protein KIAA0319; Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites. 9606.ENSP00000367462,OLAH,318,"S-acyl fatty acid synthase thioesterase, medium chain; Contributes to the release of free fatty acids from fatty acid synthase (FASN). Has broad substrate specificity, giving rise to a range of free fatty acids with chain lengths between 10 and 16 carbon atoms (C10 - C16); Belongs to the thioesterase family." 9606.ENSP00000367476,CEP104,925,Centrosomal protein of 104 kDa; Required for ciliogenesis and for structural integrity at the ciliary tip. 9606.ENSP00000367494,SPIRE2,714,"Protein spire homolog 2; Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning and asymmetric cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis. Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nucle [...] " 9606.ENSP00000367498,LRRC47,583,Leucine-rich repeat-containing protein 47; Leucine rich repeat containing 47. 9606.ENSP00000367527,DCLRE1C,692,"Protein artemis; Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and [...] " 9606.ENSP00000367528,AARD,155,Alanine and arginine rich domain containing protein. 9606.ENSP00000367545,TP73,636,"Tumor protein p73; Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein." 9606.ENSP00000367552,RCBTB1,531,RCC1 and BTB domain-containing protein 1; May be involved in cell cycle regulation by chromatin remodeling. 9606.ENSP00000367564,C19orf54,351,UPF0692 protein C19orf54; Chromosome 19 open reading frame 54. 9606.ENSP00000367570,PHF11,331,PHD finger protein 11; Positive regulator of Th1-type cytokine gene expression. 9606.ENSP00000367590,REEP2,254,"Receptor expression-enhancing protein 2; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity); Belongs to the DP1 family." 9606.ENSP00000367595,TPRG1L,272,Tumor protein p63-regulated gene 1-like protein; Presynaptic protein involved in the synaptic transmission tuning. Regulates synaptic release probability by decreasing the calcium sensitivity of release. 9606.ENSP00000367608,CA9,459,Carbonic anhydrase 9; Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia. 9606.ENSP00000367615,APRT,180,"Adenine phosphoribosyltransferase; Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis." 9606.ENSP00000367623,HSPA14,509,"Heat shock 70 kDa protein 14; Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding- competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity. Belongs to the heat shock protein 70 family." 9606.ENSP00000367629,ARHGEF16,709,Rho guanine nucleotide exchange factor 16; Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6. 9606.ENSP00000367638,ARHGEF39,335,Rho guanine nucleotide exchange factor 39; Promotes cell proliferation. 9606.ENSP00000367644,ANKEF1,776,Ankyrin repeat and EF-hand domain containing 1. 9606.ENSP00000367649,OR5D16,328,Olfactory receptor 5D16; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000367650,OR5L2,311,Olfactory receptor 5L2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000367655,PKHD1L1,4243,Fibrocystin-L; PKHD1 like 1. 9606.ENSP00000367658,ACTRT2,377,Actin related protein T2. 9606.ENSP00000367664,OR4A5,315,Olfactory receptor 4A5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000367668,MMEL1,779,"Membrane metallo-endopeptidase-like 1, soluble form; Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity); Belongs to the peptidase M13 family." 9606.ENSP00000367686,PAK5,719,"Serine/threonine-protein kinase PAK 5; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates the proto-oncogene RAF1 and stimulates its kinase activity. Promotes cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Phosphoryla [...] " 9606.ENSP00000367691,LPAR6,344,Lysophosphatidic acid receptor 6; Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture. 9606.ENSP00000367705,BCOR,1755,BCL-6 corepressor; Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA- binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' ( [...] 9606.ENSP00000367714,HES5,166,Transcription factor HES-5; Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity). 9606.ENSP00000367715,DCDC2,476,Doublecortin domain-containing protein 2; Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length. 9606.ENSP00000367721,NUP160,1436,Nuclear pore complex protein Nup160; Functions as a component of the nuclear pore complex (NPC). Involved in poly(A)+ RNA transport. 9606.ENSP00000367739,NRSN1,195,"Neurensin-1; May play an important role in neural organelle transport, and in transduction of nerve signals or in nerve growth. May play a role in neurite extension. May play a role in memory consolidation (By similarity); Belongs to the VMP family." 9606.ENSP00000367743,TSPAN7,249,Tetraspanin-7; May be involved in cell proliferation and cell motility. 9606.ENSP00000367747,PLCH2,1416,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity)." 9606.ENSP00000367748,CLLU1OS,101,Putative chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein. 9606.ENSP00000367755,CAMKMT,323,Calmodulin-lysine N-methyltransferase; Catalyzes the trimethylation of 'Lys-116' in calmodulin. Belongs to the class I-like SAM-binding methyltransferase superfamily. CLNMT methyltransferase family. 9606.ENSP00000367762,PLCB4,1194,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction." 9606.ENSP00000367770,SLC35B4,331,UDP-xylose and UDP-N-acetylglucosamine transporter; Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi; Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. 9606.ENSP00000367787,LIG3,1009,"DNA ligase 3; Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair." 9606.ENSP00000367792,MORN1,497,MORN repeat containing 1. 9606.ENSP00000367794,SRPX,464,"Sushi repeat-containing protein SRPX; May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction." 9606.ENSP00000367797,SKI,728,Ski oncogene; May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling. Belongs to the SKI family. 9606.ENSP00000367806,RPS16,152,Ribosomal protein S16. 9606.ENSP00000367815,DNAAF1,725,"Dynein assembly factor 1, axonemal; Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli." 9606.ENSP00000367817,PODXL,558,"Podocalyxin; Involved in the regulation of both adhesion and cell morphology and cancer progression. Functions as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts as a pro- adhesive molecule, enhancing the adherence of cells to immobilized ligands, increasing the rate of migration and cell-cell contacts in an integrin-dependent manner. Induces the formation of apical actin- dependent microvilli. Involved in the formation of a preapical plasma membrane subdomain to set up initial epithelial p [...] " 9606.ENSP00000367823,FAM214B,538,Protein FAM214B; Family with sequence similarity 214 member B; Belongs to the FAM214 family. 9606.ENSP00000367830,PRKCZ,592,"Protein kinase C zeta type; Calcium- and diacylglycerol-independent serine/threonine- protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signaling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascade independently of RAF1 activation. Req [...] " 9606.ENSP00000367832,CCL7,99,"C-C motif chemokine 7; Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3." 9606.ENSP00000367835,PRPF18,342,Pre-mRNA-splicing factor 18; Participates in the second step of pre-mRNA splicing. 9606.ENSP00000367841,DYNLT3,116,Dynein light chain Tctex-type 3; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Probably binds BUB3 as part of transport cargo. Required for the efficient progression through mitosis (By similarity); Belongs to the dynein light chain Tctex-type family. 9606.ENSP00000367848,GABRD,452,"Gamma-aminobutyric acid receptor subunit delta; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000367851,CYBB,570,Cytochrome b-245 heavy chain; Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. 9606.ENSP00000367872,GNB1,340,"Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000367878,C11orf49,337,UPF0705 protein C11orf49; Chromosome 11 open reading frame 49; Belongs to the UPF0705 family. 9606.ENSP00000367879,XK,444,Membrane transport protein XK; May be involved in sodium-dependent transport of neutral amino acids or oligopeptides. 9606.ENSP00000367880,PIGO,1089,GPI ethanolamine phosphate transferase 3; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI- anchor to the C-terminus of the proteins by an amide bond. Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily. 9606.ENSP00000367882,LANCL3,420,LanC-like protein 3; LanC like 3. 9606.ENSP00000367888,LRP4,1905,"Low-density lipoprotein receptor-related protein 4; Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the [...] " 9606.ENSP00000367890,NADK,591,NAD kinase; Belongs to the NAD kinase family. 9606.ENSP00000367891,LGALS7,136,Galectin 7. 9606.ENSP00000367893,SEPHS1,392,"Selenide, water dikinase 1; Synthesizes selenophosphate from selenide and ATP." 9606.ENSP00000367900,CDK11A,783,"Cyclin-dependent kinase 11A; Appears to play multiple roles in cell cycle progression, cytokinesis and apoptosis. The p110 isoforms have been suggested to be involved in pre-mRNA splicing, potentially by phosphorylating the splicing protein SFRS7. The p58 isoform may act as a negative regulator of normal cell cycle progression; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily." 9606.ENSP00000367910,FANCG,622,Fanconi anemia group G protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene. 9606.ENSP00000367911,SYCE1L,242,Synaptonemal complex central element protein 1-like; May be involved in meiosis. 9606.ENSP00000367913,FAM47C,1035,Putative protein FAM47C; Family with sequence similarity 47 member C; Belongs to the FAM47 family. 9606.ENSP00000367922,CFAP47,3187,Cilia and flagella associated protein 47. 9606.ENSP00000367930,OXER1,423,"Oxoeicosanoid receptor 1; Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)- hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins." 9606.ENSP00000367938,COX7A2L,114,"Cytochrome c oxidase subunit 7A-related protein, mitochondrial; Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity). Belongs to the cytochrome c oxidase VIIa family." 9606.ENSP00000367939,UQCRQ,82,"Cytochrome b-c1 complex subunit 8; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inn [...] " 9606.ENSP00000367942,GDF9,454,"Growth/differentiation factor 9; Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells. [...] " 9606.ENSP00000367950,SHROOM1,852,Protein Shroom1; May be involved in the assembly of microtubule arrays during cell elongation. 9606.ENSP00000367952,UCMA,138,Unique cartilage matrix-associated protein C-terminal fragment; May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface. 9606.ENSP00000367965,SOWAHA,549,Ankyrin repeat domain-containing protein SOWAHA; Sosondowah ankyrin repeat domain family member A; Belongs to the SOWAH family. 9606.ENSP00000367967,GLIPR1L1,242,"GLIPR1-like protein 1; Plays a role in the binding between sperm and oocytes. Component of epididymosomes, one type of membranous microvesicules which mediate the transfer of lipids and proteins to spermatozoa plasma membrane during epididymal maturation. Also component of the CD9- positive microvesicules found in the cauda region." 9606.ENSP00000367972,ID4,161,"DNA-binding protein inhibitor ID-4; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation (By similarity)." 9606.ENSP00000367991,SEPTIN8,483,Septin-8; Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion. Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. 9606.ENSP00000367992,ESD,282,S-formylglutathione hydrolase; Serine hydrolase involved in the detoxification of formaldehyde. 9606.ENSP00000368007,TMEM240,173,Transmembrane protein 240; Belongs to the TMEM240 family. 9606.ENSP00000368014,PAX4,348,"Paired box protein Pax-4; Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity." 9606.ENSP00000368017,ZFC3H1,1989,"Zinc finger C3H1 domain-containing protein; Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters." 9606.ENSP00000368022,OPTN,577,"Optineurin; Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation. In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and [...] " 9606.ENSP00000368030,ATAD3A,634,"ATPase family AAA domain-containing protein 3A; Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis." 9606.ENSP00000368062,ATAD3C,411,ATPase family AAA domain containing 3C; Belongs to the AAA ATPase family. 9606.ENSP00000368066,HAO1,370,"Hydroxyacid oxidase 1; Has 2-hydroxyacid oxidase activity. Most active on the 2- carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate." 9606.ENSP00000368079,CYP4V2,525,"Cytochrome P450 4V2; Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye. Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate. Also produces some 21- [...] " 9606.ENSP00000368100,RAD50,1312,"DNA repair protein RAD50; Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease [...] " 9606.ENSP00000368102,CCDC3,270,Coiled-coil domain-containing protein 3; Negatively regulates TNF-alpha-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-alpha-induced NF-kappaB activation in ECs. Positively regulates lipid accumulation in adipose cells (By similarity). 9606.ENSP00000368104,BMP2,396,"Bone morphogenetic protein 2; Induces cartilage and bone formation. Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 ; Belongs to the TGF-beta family." 9606.ENSP00000368109,ACCSL,568,Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2; 1-aminocyclopropane-1-carboxylate synthase homolog like; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. 9606.ENSP00000368119,GALT,379,Galactose-1-phosphate uridylyltransferase; Plays an important role in galactose metabolism. 9606.ENSP00000368127,C4orf47,309,UPF0602 protein C4orf47; Chromosome 4 open reading frame 47; Belongs to the UPF0602 family. 9606.ENSP00000368135,LRRN4,740,Leucine-rich repeat neuronal protein 4; May play an important role in hippocampus-dependent long- lasting memory. 9606.ENSP00000368140,CRLS1,301,Cardiolipin synthase (CMP-forming); Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions. 9606.ENSP00000368144,PRR5L,368,"Proline-rich protein 5-like; Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton. Regulates the activity of the mTORC2 complex in a substrate-specific manner preventing for instance the specific phosphorylation of PKCs and thereby controlling cell migration. Plays a role in the stimulation of ZFP36-mediated mRNA decay of several ZFP36-associated mRNAs, such as TNF-alpha and GM- CSF, in response to stress. Required for ZFP36 localization to cytoplasmic stress granule (SG) and P-body (PB) in response to stress ; Bel [...] " 9606.ENSP00000368152,ALKBH6,266,"Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6; Probable dioxygenase that requires molecular oxygen, alpha- ketoglutarate and iron; Belongs to the alkB family." 9606.ENSP00000368164,MCM8,880,"DNA helicase MCM8; Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross- links (ICLs) by homologous recombination (HR). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity. Probably by regulating the localization of the MNR complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs. The MCM8-MCM9 complex is dispensable for DNA replication [...] " 9606.ENSP00000368165,SDHAF1,115,"Succinate dehydrogenase assembly factor 1, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDH [...] " 9606.ENSP00000368166,DVL1,695,Segment polarity protein dishevelled homolog DVL-1; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). 9606.ENSP00000368173,DHRS13,377,Dehydrogenase/reductase SDR family member 13; Putative oxidoreductase. 9606.ENSP00000368189,ARID3C,412,AT-rich interactive domain-containing protein 3C; AT-rich interaction domain 3C. 9606.ENSP00000368190,NPHS1,1241,Nephrin; Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity). 9606.ENSP00000368199,PGPEP1L,196,Pyroglutamyl-peptidase 1-like protein; Pyroglutamyl-peptidase I like. 9606.ENSP00000368207,FTHL17,183,Ferritin heavy chain like 17. 9606.ENSP00000368215,TAB3,712,"TGF-beta-activated kinase 1 and MAP3K7-binding protein 3; Adapter linking MAP3K7/TAK1 and TRAF6 or TRAF2. Mediator of MAP3K7 activation, respectively in the IL1 and TNF signaling pathways. Plays a role in activation of NF-kappa-B and AP1 transcription factor. Isoform 2 may be an oncogenic factor." 9606.ENSP00000368237,ATL2,583,Atlastin-2; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. 9606.ENSP00000368244,CHGB,677,"Secretogranin-1; Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides." 9606.ENSP00000368245,CXorf21,301,"Protein CXorf21; Plays a role in the regulation of endolysosomal pH in immune cells such as B-cells, dendritic cells and monocytes. May be involved in endolysosomal-dependent immune responses." 9606.ENSP00000368253,NR0B1,470,Nuclear receptor subfamily 0 group B member 1; Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity). 9606.ENSP00000368264,MAGEB1,347,Melanoma-associated antigen B1; MAGE family member B1. 9606.ENSP00000368265,CNTFR,372,Ciliary neurotrophic factor receptor subunit alpha; Binds to CNTF. The alpha subunit provides the receptor specificity. Receptor for heterodimeric neurotropic cytokine composed of CLCF1/CLC and CRLF1/CLF-1. Belongs to the type I cytokine receptor family. Type 3 subfamily. 9606.ENSP00000368266,MAGEB4,346,Melanoma-associated antigen B4; MAGE family member B4. 9606.ENSP00000368273,MAGEB2,319,Melanoma-associated antigen B2; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. 9606.ENSP00000368278,IL1RAPL1,696,"Interleukin-1 receptor accessory protein-like 1; May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity). ECO:0000250|UniProtKB:P59824, ; Belongs to the interleukin-1 receptor family." 9606.ENSP00000368296,C11orf91,193,Uncharacterized protein C11orf91; Chromosome 11 open reading frame 91. 9606.ENSP00000368304,MAGEB10,347,Melanoma-associated antigen B10; MAGE family member B10. 9606.ENSP00000368305,GPCPD1,672,"Glycerophosphocholine phosphodiesterase GPCPD1; May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity; Belongs to the glycerophosphoryl diester phosphodiesterase family." 9606.ENSP00000368314,NRCAM,1304,"Neuronal cell adhesion molecule; Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by [...] " 9606.ENSP00000368318,PUSL1,303,Pseudouridine synthase like 1; Belongs to the tRNA pseudouridine synthase TruA family. 9606.ENSP00000368320,MAGEB6,407,Melanoma-associated antigen B6; MAGE family member B6. 9606.ENSP00000368332,ARX,562,Homeobox protein ARX; Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate; Belongs to the paired homeobox family. Bicoid subfamily. 9606.ENSP00000368341,RBM24,236,"RNA-binding protein 24; Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation. Plays a major role in pre-mRNA alternative splicing regulation. Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation. Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). I [...] " 9606.ENSP00000368356,PRKD3,890,"Serine/threonine-protein kinase D3; Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity)." 9606.ENSP00000368358,POLA1,1468,"DNA polymerase alpha catalytic subunit; Catalytic subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, a regulatory subunit POLA2 and two primase subunits PRIM1 and PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA p [...] " 9606.ENSP00000368362,FABP9,132,Fatty acid binding protein 9. 9606.ENSP00000368370,WT1,302,"Wilms tumor protein; Transcription factor that plays an important role in cellular development and cell survival. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has [...] " 9606.ENSP00000368389,NGRN,291,"Neugrin; Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system." 9606.ENSP00000368397,LYRM9,78,LYR motif containing 9; Belongs to the complex I LYR family. LYRM9 subfamily. 9606.ENSP00000368402,KCTD4,259,BTB/POZ domain-containing protein KCTD4; Potassium channel tetramerization domain containing 4. 9606.ENSP00000368411,SCNN1D,802,"Amiloride-sensitive sodium channel subunit delta; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1D subfamily." 9606.ENSP00000368414,BCAP29,348,B-cell receptor-associated protein 29; May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8- mediated apoptosis (By similarity); Belongs to the BCAP29/BCAP31 family. 9606.ENSP00000368439,PCYT1B,369,Choline-phosphate cytidylyltransferase B; Controls phosphatidylcholine synthesis. 9606.ENSP00000368447,GPALPP1,340,GPALPP motifs containing 1. 9606.ENSP00000368450,CD83,205,CD83 antigen; May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation. 9606.ENSP00000368452,NUDT2,147,Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]; Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis; Belongs to the Nudix hydrolase family. 9606.ENSP00000368458,PCNA,261,"Proliferating cell nuclear antigen; Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'- phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA rep [...] " 9606.ENSP00000368459,NUFIP1,495,Nuclear fragile X mental retardation-interacting protein 1; Binds RNA. 9606.ENSP00000368468,MCUR1,359,Mitochondrial calcium uniporter regulator 1; Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion. Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU. Probably involved in the assembly of the membrane components of the uniporter complex (uniplex). Belongs to the CCDC90 family. 9606.ENSP00000368477,SERP2,65,Stress-associated endoplasmic reticulum protein 2; May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation (Potential). 9606.ENSP00000368486,ZFX,844,Zinc finger X-chromosomal protein; Probable transcriptional activator. 9606.ENSP00000368496,B3GALT6,329,"Beta-1,3-galactosyltransferase 6; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues." 9606.ENSP00000368503,C4orf46,113,Renal cancer differentiation gene 1 protein; Chromosome 4 open reading frame 46. 9606.ENSP00000368511,CXorf58,332,Putative uncharacterized protein CXorf58; Chromosome X open reading frame 58. 9606.ENSP00000368516,LGR4,951,"Leucine-rich repeat-containing G-protein coupled receptor 4; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Its function as activat [...] " 9606.ENSP00000368517,ECHDC3,303,"Enoyl-CoA hydratase domain-containing protein 3, mitochondrial; May play a role in fatty acid biosynthesis and insulin sensitivity; Belongs to the enoyl-CoA hydratase/isomerase family." 9606.ENSP00000368523,DNAJC15,150,DnaJ homolog subfamily C member 15; Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9. 9606.ENSP00000368528,APOO,198,"MICOS complex subunit MIC26; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function. Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts. Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride trans [...] " 9606.ENSP00000368538,TNFRSF4,277,Tumor necrosis factor receptor superfamily member 4; Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity. 9606.ENSP00000368544,VIT,693,Vitrin; Promotes matrix assembly and cell adhesiveness. Plays a role in spinal cord formation by regulating the proliferation and differentiation of neural stem cells. 9606.ENSP00000368547,FEZ2,380,Fasciculation and elongation protein zeta-2; Involved in axonal outgrowth and fasciculation. 9606.ENSP00000368565,DNAJC2,621,"DnaJ homolog subfamily C member 2, N-terminally processed; Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifi [...] " 9606.ENSP00000368572,SAT1,171,"Diamine acetyltransferase 1; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)- acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine; Belongs to the acetyltransferase family." 9606.ENSP00000368589,GFOD1,390,Glucose-fructose oxidoreductase domain containing 1; Belongs to the Gfo/Idh/MocA family. 9606.ENSP00000368592,TTLL10,673,Inactive polyglycylase TTLL10; Inactive polyglycylase. 9606.ENSP00000368605,ACOT9,448,"Acyl-coenzyme A thioesterase 9, mitochondrial; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs." 9606.ENSP00000368612,VWA8,1905,Von Willebrand factor A domain-containing protein 8; Exhibits ATPase activity in vitro. 9606.ENSP00000368632,GATA3,444,Trans-acting T-cell-specific transcription factor GATA-3; Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. 9606.ENSP00000368637,SLC23A2,650,"Solute carrier family 23 member 2; Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate." 9606.ENSP00000368644,C1orf159,380,Uncharacterized protein C1orf159; Chromosome 1 open reading frame 159. 9606.ENSP00000368646,PRDX4,271,"Peroxiredoxin-4; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I-kappa-B-alpha phosphorylation." 9606.ENSP00000368648,SLC30A6,501,Zinc transporter 6; Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment. Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. 9606.ENSP00000368664,RGCC,137,Regulator of cell cycle RGCC; Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation. 9606.ENSP00000368666,PTCHD1,888,"Patched domain-containing protein 1; Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention." 9606.ENSP00000368667,DDX53,631,Probable ATP-dependent RNA helicase DDX53; DEAD-box helicase 53. 9606.ENSP00000368678,AGRN,2045,Agrin C-terminal 110 kDa subunit; [Isoform 1]: heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal AChR clu [...] 9606.ENSP00000368682,PHEX,749,"Phosphate-regulating neutral endopeptidase PHEX; Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity. Cleaves ASARM peptides between Ser and Glu or Asp residues. Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide. Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides. Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation." 9606.ENSP00000368683,EDN1,212,"Big endothelin-1; Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells. Belongs to the endothelin/sarafotoxin family." 9606.ENSP00000368686,E2F4,413,"Transcription factor E2F4; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F4 binds with high affinity to RBL1 and RBL2. In some instances can also bind RB1. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole [...] " 9606.ENSP00000368688,LYRM7,104,"Complex III assembly factor LYRM7; Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane." 9606.ENSP00000368698,HIVEP1,2718,"Zinc finger protein 40; This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interfero [...] " 9606.ENSP00000368710,RASSF2,326,Ras association domain-containing protein 2; Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation. 9606.ENSP00000368716,NAA16,864,"N-alpha-acetyltransferase 16, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity." 9606.ENSP00000368720,PLEKHN1,611,"Pleckstrin homology domain-containing family N member 1; Controls the stability of the leptin mRNA harboring an AU- rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1. Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity). Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidylserine (PS). Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon canc [...] " 9606.ENSP00000368727,XDH,1333,Xanthine dehydrogenase/oxidase; Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro). 9606.ENSP00000368737,TMEM170B,132,"Transmembrane protein 170B; Negatively regulates the canonical Wnt signaling in breast cancer cells. Exerts an inhibitory effect on breast cancer growth by inhibiting CTNNB1 stabilization and nucleus translocation, which reduces the activity of Wnt targets. Belongs to the TMEM170 family." 9606.ENSP00000368758,CTXN3,81,Cortexin-3; Cortexin 3. 9606.ENSP00000368759,NEDD9,834,"Enhancer of filamentation 1 p55; Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phospho [...] " 9606.ENSP00000368766,ADRA1D,572,Alpha-1D adrenergic receptor; This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1D sub-subfamily. 9606.ENSP00000368767,ASPH,758,Aspartyl/asparaginyl beta-hydroxylase; [Isoform 1]: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins; Belongs to the aspartyl/asparaginyl beta-hydroxylase family. 9606.ENSP00000368771,MUC3A,3323,"Mucin-3A; Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling." 9606.ENSP00000368793,MTRF1,445,"Peptide chain release factor 1, mitochondrial; Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA." 9606.ENSP00000368797,KBTBD7,684,Kelch repeat and BTB domain containing 7. 9606.ENSP00000368798,MBTPS2,519,"Membrane-bound transcription factor site-2 protease; Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription. Involved in RIP-mediated regulation of bone formation." 9606.ENSP00000368799,KBTBD6,674,Kelch repeat and BTB domain containing 6. 9606.ENSP00000368801,WBP4,376,WW domain-binding protein 4; Involved in pre-mRNA splicing as a component of the spliceosome. May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex. 9606.ENSP00000368805,GCM2,506,"Chorion-specific transcription factor GCMb; Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development." 9606.ENSP00000368808,SMPX,88,"Small muscular protein; Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair." 9606.ENSP00000368813,KLHL34,644,Kelch-like protein 34; Kelch like family member 34. 9606.ENSP00000368814,CMTM1,286,CKLF like MARVEL transmembrane domain containing 1. 9606.ENSP00000368818,TOM1L2,507,TOM1-like protein 2; Probable role in protein transport. May regulate growth factor-induced mitogenic signaling. 9606.ENSP00000368824,CNKSR2,1034,Connector enhancer of kinase suppressor of ras 2; May function as an adapter protein or regulator of Ras signaling pathways. 9606.ENSP00000368831,SNX2,519,"Sorting nexin-2; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts in part as component of the retromer membrane- deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called e [...] " 9606.ENSP00000368835,YPEL5,121,Protein yippee-like 5; Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Required for normal cell proliferation (By similarity). 9606.ENSP00000368856,NFX1,1120,"Transcriptional repressor NF-X1; Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X- box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination; Belongs to the NFX1 family." 9606.ENSP00000368868,ELF2,593,ETS-related transcription factor Elf-2; Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter. 9606.ENSP00000368872,INSC,579,Protein inscuteable homolog; May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex. Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity). 9606.ENSP00000368876,TOGARAM2,1019,TOG array regulator of axonemal microtubules 2. 9606.ENSP00000368880,FOXO1,655,Forkhead box protein O1; Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3'. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Acts synergistically with ATF4 to suppress osteocalc [...] 9606.ENSP00000368881,KIN,393,"DNA/RNA-binding protein KIN17; Involved in DNA replication and the cellular response to DNA damage. May participate in DNA replication factories and create a bridge between DNA replication and repair mediated by high molecular weight complexes. May play a role in illegitimate recombination and regulation of gene expression. May participate in mRNA processing. Binds, in vitro, to double-stranded DNA. Also shown to bind preferentially to curved DNA in vitro and in vivo (By similarity). Binds via its C-terminal domain to RNA in vitro." 9606.ENSP00000368884,RPS6KA3,740,"Ribosomal protein S6 kinase alpha-3; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro- apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subseq [...] " 9606.ENSP00000368887,PAK1IP1,392,"P21-activated protein kinase-interacting protein 1; Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly." 9606.ENSP00000368908,LHFPL6,200,LHFPL tetraspan subfamily member 6. 9606.ENSP00000368920,NHLRC3,347,NHL repeat containing 3. 9606.ENSP00000368927,EIF1AX,144,"Eukaryotic translation initiation factor 1A, X-chromosomal; Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits; Belongs to the eIF-1A family." 9606.ENSP00000368931,CCDC112,529,Coiled-coil domain containing 112. 9606.ENSP00000368952,STOML3,291,Stomatin-like protein 3; Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations; Belongs to the band 7/mec-2 family. 9606.ENSP00000368959,REEP5,189,Receptor expression-enhancing protein 5; May promote functional cell surface expression of olfactory receptors; Belongs to the DP1 family. 9606.ENSP00000368964,MAP7D2,773,MAP7 domain containing 2. 9606.ENSP00000368965,HGSNAT,635,"Heparan-alpha-glucosaminide N-acetyltransferase; Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase." 9606.ENSP00000368966,TRPC3,921,"Short transient receptor potential channel 3; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G- protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C, and by inositol 1,4,5-triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion." 9606.ENSP00000368970,UFM1,103,"Ubiquitin-fold modifier 1; Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to substrate proteins as a monomer or a lysine- linked polymer. The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1. This post- translational modification on lysine residues of proteins may play a crucial role in a number of cellular processes. TRIP4 ufmylation may for instance play a role in nuclear receptors-mediated transcription. Other substrates may include DDRGK1 with which it may play [...] " 9606.ENSP00000368981,SLC35B3,401,"Adenosine 3'-phospho 5'-phosphosulfate transporter 2; Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon." 9606.ENSP00000368982,KATNB1,655,"Katanin p80 WD40 repeat-containing subunit B1; Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Micr [...] " 9606.ENSP00000368984,EXOSC9,456,"Exosome complex component RRP45; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] " 9606.ENSP00000368986,OR6C65,312,Olfactory receptor 6C65; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000368994,ARHGAP44,818,"Rho GTPase-activating protein 44; GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1. In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin- patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin m [...] " 9606.ENSP00000369009,BCLAF3,682,BCLAF1 and THRAP3 family member 3; Belongs to the BCLAF1/THRAP3 family. 9606.ENSP00000369014,NDNF,568,"Protein NDNF; Promotes matrix assembly and cell adhesiveness (By similarity). Promotes neuron migration, growth and survival as well as neurite outgrowth. Promotes endothelial cell survival, vessel formation and plays an important role in the process of revascularization through NOS3-dependent mechanisms." 9606.ENSP00000369017,INSL3,157,Insulin-like 3 A chain; Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor; Belongs to the insulin family. 9606.ENSP00000369038,EEF1E1,174,Eukaryotic translation elongation factor 1 epsilon-1; Positive modulator of ATM response to DNA damage. 9606.ENSP00000369042,IPO7,1038,"Importin-7; Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm [...] " 9606.ENSP00000369045,SPINK4,86,Serine peptidase inhibitor Kazal type 4. 9606.ENSP00000369055,B4GALT1,398,"Processed beta-1,4-galactosyltransferase 1; The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids." 9606.ENSP00000369071,POSTN,836,"Periostin; Induces cell attachment and spreading and plays a role in cell adhesion. Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity)." 9606.ENSP00000369075,CENPB,599,"Major centromere autoantigen B; Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box. May organize arrays of centromere satellite DNA into a higher-order structure which then directs centromere formation and kinetochore assembly in mammalian chromosomes (Probable)." 9606.ENSP00000369080,SPEF1,236,Sperm flagellar protein 1; Microtubule-associated protein involved in the stabilization of microtubules along the axis of migration during radial intercalation. Promotes the establishment and stabilization of an axis of microtubules required for the active migration of cells into the outer epithelium (By similarity). Microtubule-associated protein that promotes microtubule bundling and stabilizes microtubules against depolymerization in response to cold shock (By similarity). 9606.ENSP00000369081,TXNDC5,432,Thioredoxin domain-containing protein 5; Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity). 9606.ENSP00000369099,ADPRM,342,"Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase; Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP- glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity)." 9606.ENSP00000369126,CSNK1A1L,337,Casein kinase I isoform alpha-like; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity). 9606.ENSP00000369127,DNAJA1,397,"DnaJ homolog subfamily A member 1; Co-chaperone for HSPA8/Hsc70. Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro). Plays a role in protein transport into mitochondria via its role as co-chaperone. Functions as co- chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis. Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV." 9606.ENSP00000369129,DSP,2871,Desmoplakin; Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes. 9606.ENSP00000369131,SIN3B,1162,"Paired amphipathic helix protein Sin3b; Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression." 9606.ENSP00000369134,PDHA1,428,"Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle." 9606.ENSP00000369139,MT1G,62,Metallothionein-1G; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. 9606.ENSP00000369145,APTX,342,"Aprataxin; DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), bu [...] " 9606.ENSP00000369146,MT1M,61,Metallothionein-1M; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. 9606.ENSP00000369154,SMAD9,467,Mothers against decapentaplegic homolog 9; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor- regulated SMAD (R-SMAD); Belongs to the dwarfin/SMAD family. 9606.ENSP00000369157,OR10A4,315,Olfactory receptor 10A4; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000369162,RIOK1,568,Serine/threonine-protein kinase RIO1; Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor. The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic associa [...] 9606.ENSP00000369176,NDUFB6,128,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000369192,NRBP1,543,Nuclear receptor-binding protein; May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. 9606.ENSP00000369198,ADGRG2,1017,Adhesion G-protein coupled receptor G2; Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000369210,SOHLH2,425,"Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2; Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)." 9606.ENSP00000369213,DDX58,925,Antiviral innate immune response receptor RIG-I; Innate immune receptor that senses cytoplasmic viral nucleic acids and activates a downstream signaling cascade leading to the production of type I interferons and proinflammatory cytokines. Forms a ribonucleoprotein complex with viral RNAs on which it homooligomerizes to form filaments. The homooligomerization allows the recruitment of RNF135 an E3 ubiquitin-protein ligase that activates and amplifies the RIG-I-mediated antiviral signaling in an RNA length-dependent manner through ubiquitination-dependent and -independent mechanisms. Up [...] 9606.ENSP00000369217,ARIH1,557,"E3 ubiquitin-protein ligase ARIH1; E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3. Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets. The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2. E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin- [...] " 9606.ENSP00000369238,ADAM32,787,Disintegrin and metalloproteinase domain-containing protein 32; May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein. 9606.ENSP00000369251,MAB21L1,359,Putative nucleotidyltransferase MAB21L1; Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye. It is unclear whether it displays nucleotidyltransferase activity in vivo. Binds single-stranded RNA (ssRNA). Belongs to the mab-21 family. 9606.ENSP00000369268,CNGA4,575,"Cyclic nucleotide-gated cation channel alpha-4; Second messenger, cAMP, causes the opening of cation- selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection (By similarity)." 9606.ENSP00000369270,RREB1,1742,Ras-responsive element-binding protein 1; Transcription factor that binds specifically to the RAS- responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1. 9606.ENSP00000369274,PHKA2,1235,"Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin." 9606.ENSP00000369286,LY86,162,Lymphocyte antigen 86; May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression (By similarity). 9606.ENSP00000369291,LETM2,491,"LETM1 domain-containing protein LETM2, mitochondrial; Leucine zipper and EF-hand containing transmembrane protein 2." 9606.ENSP00000369292,SAMD9,1589,"Sterile alpha motif domain-containing protein 9; May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion." 9606.ENSP00000369293,IL2RA,272,Interleukin-2 receptor subunit alpha; Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells. 9606.ENSP00000369299,TRIM22,498,"E3 ubiquitin-protein ligase TRIM22; Interferon-induced antiviral protein involved in cell innate immunity. The antiviral activity could in part be mediated by TRIM22- dependent ubiquitination of viral proteins. Plays a role in restricting the replication of HIV-1, encephalomyocarditis virus (EMCV) and hepatitis B virus (HBV). Acts as a transcriptional repressor of HBV core promoter. May have E3 ubiquitin-protein ligase activity." 9606.ENSP00000369314,GLRX,106,Glutaredoxin-1; Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins; Belongs to the glutaredoxin family. 9606.ENSP00000369317,KRT6A,564,"Keratin, type II cytoskeletal 6A; Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair. Belongs to the intermediate filament family." 9606.ENSP00000369318,RHOBTB3,611,"Rho-related BTB domain-containing protein 3; Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9." 9606.ENSP00000369320,RS1,224,"Retinoschisin; Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells. Required for normal structure and function of the retina." 9606.ENSP00000369325,CDKL5,1030,Cyclin-dependent kinase-like 5; Mediates phosphorylation of MECP2. May regulate ciliogenesis. 9606.ENSP00000369328,LINGO2,606,Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2; Leucine rich repeat and Ig domain containing 2. 9606.ENSP00000369335,FBH1,1094,"F-box DNA helicase 1; 3'-5' DNA helicase and substrate-recognition component of the SCF(FBH1) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks. Involved in genome maintenance by acting as an anti- recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination. Also promotes cell death and DNA double-strand breakage in response to replication stress: together with MU [...] " 9606.ENSP00000369344,GPR150,434,Probable G-protein coupled receptor 150; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369346,ARSK,536,Arylsulfatase family member K. 9606.ENSP00000369349,KRT81,505,"Keratin, type II cuticular Hb1; Keratin 81." 9606.ENSP00000369371,EQTN,294,Equatorin; Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis. 9606.ENSP00000369372,BEND2,799,BEN domain containing 2. 9606.ENSP00000369373,TRIM5,493,"Tripartite motif-containing protein 5; Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1- UBE2N (als [...] " 9606.ENSP00000369375,TEK,1124,"Angiopoietin-1 receptor; Tyrosine-protein kinase that acts as cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of proinflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required for post-natal hematopoiesis. After birth, activates or inhibits angi [...] " 9606.ENSP00000369380,SCML1,329,"Sex comb on midleg-like protein 1; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity); Belongs to the SCM family." 9606.ENSP00000369383,MPV17,176,"Protein Mpv17; Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis. Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance. May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity)." 9606.ENSP00000369390,CDK14,469,"Cyclin-dependent kinase 14; Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuro [...] " 9606.ENSP00000369391,RPP40,363,"Ribonuclease P protein subunit p40; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences." 9606.ENSP00000369395,LRRC19,370,Leucine-rich repeat-containing protein 19; Leucine rich repeat containing 19. 9606.ENSP00000369399,SLC4A11,918,"Sodium bicarbonate transporter-like protein 11; Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into th [...] " 9606.ENSP00000369400,NHS,1630,"Nance-Horan syndrome protein; May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development; Belongs to the NHS family." 9606.ENSP00000369409,EXOC3L4,722,Exocyst complex component 3 like 4; Belongs to the SEC6 family. 9606.ENSP00000369411,RFC3,356,Replication factor C subunit 3; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. 9606.ENSP00000369419,STEAP4,459,"Metalloreductase STEAP4; Integral membrane protein that functions as NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane. Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate. Can also reduce Cu(2+) to Cu(1+) (By similarity). Plays a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses (By similarity). Associated with obesity and insulin-resistance. Involved in inflammatory arthri [...] " 9606.ENSP00000369424,RBBP7,469,"Histone-binding protein RBBP7; Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and [...] " 9606.ENSP00000369431,CAAP1,361,Caspase activity and apoptosis inhibitor 1; Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop. 9606.ENSP00000369436,ANKRD16,361,"Ankyrin repeat domain-containing protein 16; Required to prevent the misactivation of serine (Ser) with tRNA(Ala) by promoting the hydrolysis of Ser-mischarged tRNA(Ala), thereby playing a role in translational fidelity. Binds directly to the catalytic domain of AARS/AlaRS and captures Ser that is misactivated by AARS/AlaRS, preventing the charging of Ser adenylates to tRNA(Ala) and precluding Ser misincorporation in nascent peptides." 9606.ENSP00000369438,KRTAP10-10,251,"Keratin-associated protein 10-10; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000369440,TRIM6,516,"Tripartite motif-containing protein 6; E3 ubiquitin-protein ligase which ubiquitinates MYC and inhibits its transcription activation activity, maintaining the pluripotency of embryonic stem cells (By similarity). Involved in the synthesis of unanchored K48-linked polyubiquitin chains which interact with and activate the serine/threonine kinase IKBKE, leading to phosphorylation of STAT1 and stimulation of an antiviral response ; Belongs to the TRIM/RBCC family." 9606.ENSP00000369442,KL,1012,"Klotho peptide; May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity)." 9606.ENSP00000369453,ELAVL2,389,"ELAV-like protein 2; RNA-binding protein that binds to the 3' untranslated region (3'UTR) of target mRNAs (By similarity). Seems to recognize a GAAA motif (By similarity). Can bind to its own 3'UTR, the FOS 3'UTR and the ID 3'UTR (By similarity); Belongs to the RRM elav family." 9606.ENSP00000369456,ITPA,194,"Inosine triphosphate pyrophosphatase; Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions; Belongs to the HAM1 NTPase family." 9606.ENSP00000369461,ECI2,394,"Enoyl-CoA delta isomerase 2, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity)." 9606.ENSP00000369465,TXLNG,528,"Gamma-taxilin; May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression." 9606.ENSP00000369473,N4BP2L1,243,NEDD4 binding protein 2 like 1. 9606.ENSP00000369497,BRCA2,3418,"Breast cancer type 2 susceptibility protein; Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51- ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. [...] " 9606.ENSP00000369500,SYAP1,352,Synapse-associated protein 1; Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at 'Ser-473' after growth factor stimulation. 9606.ENSP00000369530,ALOX15B,676,"Arachidonate 15-lipoxygenase B; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid to 15S-hydroperoxyeicosatetraenoic acid/(15S)-HPETE. Also acts on linoleic acid to produce 13- hydroxyoctadecadienoic acid/13-HPODE. Has no detectable 8S-lipoxygenase activity but reacts with (8S)-HPETE to produce (8S,15S)-diHPETE. May regulate progression through the cell cycle and cell proliferation. May also regulate cytokine secretion by ma [...] " 9606.ENSP00000369531,UBQLNL,475,Ubiquilin-like protein; Ubiquilin like. 9606.ENSP00000369538,GDI2,445,"Rab GDP dissociation inhibitor beta; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them." 9606.ENSP00000369545,NABP2,211,"SOSS complex subunit B1; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-s [...] " 9606.ENSP00000369547,S100G,79,S100 calcium binding protein G; Belongs to the S-100 family. 9606.ENSP00000369553,IFNA8,189,"Interferon alpha-8; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000369554,IFNA2,188,"Interferon alpha-2; Produced by macrophages, IFN-alpha have antiviral activities." 9606.ENSP00000369558,IFNA6,189,"Interferon alpha-6; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000369559,OR51I1,314,Olfactory receptor 51I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369564,IFNA16,189,"Interferon alpha-16; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000369566,IFNA10,189,"Interferon alpha-10; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000369568,OR51B6,312,Olfactory receptor 51B6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369571,IFNA14,189,"Interferon alpha-14; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000369573,OR51B4,310,Olfactory receptor 51B4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369574,IFNA21,189,"Interferon alpha-21; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000369578,IFNW1,195,Interferon omega 1. 9606.ENSP00000369581,IFNB1,187,"Interferon beta; Has antiviral, antibacterial and anticancer activities; Belongs to the alpha/beta interferon family." 9606.ENSP00000369592,CCDC85C,419,"Coiled-coil domain-containing protein 85C; May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (Probable). May play an important role in cortical development, especially in the maintenance of radial glia (By similarity)." 9606.ENSP00000369599,FOCAD,1801,Focadhesin; Potential tumor suppressor in gliomas. 9606.ENSP00000369604,FBXO16,292,F-box only protein 16; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. 9606.ENSP00000369611,SPZ1,430,Spermatogenic leucine zipper protein 1; Transcription factor that binds to the DNA sequence 5'- CANNTG-3'(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (By similarity). 9606.ENSP00000369614,CNTROB,925,Centrobin; Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis. 9606.ENSP00000369618,FASTKD5,764,"FAST kinase domain-containing protein 5, mitochondrial; Plays an important role in the processing of non-canonical mitochondrial mRNA precursors." 9606.ENSP00000369627,FAM50B,325,Protein FAM50B; Family with sequence similarity 50 member B. 9606.ENSP00000369636,PXDC1,231,PX domain containing 1. 9606.ENSP00000369643,GRPR,384,"Gastrin-releasing peptide receptor; Receptor for gastrin-releasing peptide (GRP). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory (By si [...] " 9606.ENSP00000369647,AVP,164,Vasopressin-neurophysin 2-copeptin; Neurophysin 2 specifically binds vasopressin. 9606.ENSP00000369666,FBXL19,694,F-box/LRR-repeat protein 19; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By similarity). Binds to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. 9606.ENSP00000369674,BCL7C,242,B-cell CLL/lymphoma 7 protein family member C; May play an anti-apoptotic role. 9606.ENSP00000369677,EMILIN1,1016,"EMILIN-1; May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity." 9606.ENSP00000369681,USP3,520,Ubiquitin carboxyl-terminal hydrolase 3; Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin. 9606.ENSP00000369682,MRPS26,205,Mitochondrial ribosomal protein S26; Belongs to the mitochondrion-specific ribosomal protein mS26 family. 9606.ENSP00000369689,CALML5,146,Calmodulin-like protein 5; Binds calcium. May be involved in terminal differentiation of keratinocytes. 9606.ENSP00000369695,MLLT3,568,"Protein AF-9; Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylate [...] " 9606.ENSP00000369699,CLTRN,222,"Collectrin; Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). May also play a role in trafficking of amino acid transporters SLC3A1 and SLC7A9 to the renal cortical cell membrane (By similarity). Regulator of SNARE complex function. Stimulator of beta cell replication." 9606.ENSP00000369702,LHFPL2,228,LHFPL tetraspan subfamily member 2 protein; Plays a role in female and male fertility. Involved in distal reproductive tract development. 9606.ENSP00000369703,TUBB2A,445,"Tubulin beta-2A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity)." 9606.ENSP00000369716,CHD3,2059,"Chromodomain-helicase-DNA-binding protein 3; Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity." 9606.ENSP00000369725,OR52A1,312,Olfactory receptor 52A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369728,OR52J3,311,Olfactory receptor 52J3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369729,OR51A2,313,Olfactory receptor 51A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369738,OR51T1,354,Olfactory receptor 51T1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000369739,BPHL,291,"Valacyclovir hydrolase; Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol; Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000369744,OR51F1,319,Olfactory receptor 51F1; Odorant receptor. 9606.ENSP00000369753,MMP26,261,"Matrix metalloproteinase-26; May hydrolyze collagen type IV, fibronectin, fibrinogen, beta-casein, type I gelatin and alpha-1 proteinase inhibitor. Is also able to activate progelatinase B; Belongs to the peptidase M10A family." 9606.ENSP00000369755,C2CD4B,364,C2 calcium-dependent domain-containing protein 4B; May be involved in inflammatory process. May regulate cell architecture and adhesion; Belongs to the C2CD4 family. 9606.ENSP00000369756,PTPRA,802,"Receptor-type tyrosine-protein phosphatase alpha; Tyrosine protein phosphatase which is involved in integrin- mediated focal adhesion formation (By similarity). Following integrin engagement, specifically recruits BCAR3, BCAR1 and CRK to focal adhesions thereby promoting SRC-mediated phosphorylation of BRAC1 and the subsequent activation of PAK and small GTPase RAC1 and CDC42 (By similarity)." 9606.ENSP00000369757,RPS6,249,40S ribosomal protein S6; May play an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA; Belongs to the eukaryotic ribosomal protein eS6 family. 9606.ENSP00000369774,ZNF763,397,Zinc finger protein 763. 9606.ENSP00000369777,ZNF768,540,Zinc finger protein 768; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000369784,TUBAL3,446,"Tubulin alpha chain-like 3; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Belongs to the tubulin family." 9606.ENSP00000369786,PIR,290,"Pirin; Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox- state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro). Belongs to the pirin family." 9606.ENSP00000369798,UCN3,161,"Urocortin-3; Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress." 9606.ENSP00000369810,VPS16,839,"Vacuolar protein sorting-associated protein 16 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] " 9606.ENSP00000369814,AKR1C4,323,"Aldo-keto reductase family 1 member C4; Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan- 3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha- hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route; Belongs to the aldo/keto reductase family." 9606.ENSP00000369816,SHBG,402,"Sex hormone-binding globulin; Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration." 9606.ENSP00000369820,PIGA,484,"Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily." 9606.ENSP00000369822,NQO2,231,Ribosyldihydronicotinamide dehydrogenase [quinone]; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis; Belongs to the NAD(P)H dehydrogenase (quinone) family. 9606.ENSP00000369840,TEX26,289,Testis-expressed protein 26; Testis expressed 26. 9606.ENSP00000369849,MEDAG,303,"Mesenteric estrogen-dependent adipogenesis protein; Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes." 9606.ENSP00000369853,C2CD2,696,C2 calcium dependent domain containing 2. 9606.ENSP00000369855,ASB9,294,"Ankyrin repeat and SOCS box protein 9; Substrate-recognition component of a SCF-like ECS (Elongin- Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A; Belongs to the ankyrin SOCS box (ASB) family." 9606.ENSP00000369857,ABRAXAS1,409,"BRCA1-A complex subunit Abraxas 1; Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX." 9606.ENSP00000369860,MOSPD2,518,"Motile sperm domain-containing protein 2; Promotes migration of primary monocytes and neutrophils, in response to various chemokines." 9606.ENSP00000369863,TLCD3B,274,Ceramide synthase; Involved in ceramide synthesis. 9606.ENSP00000369871,HAUS6,955,"HAUS augmin-like complex subunit 6; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin. Belongs to the HAUS6 family." 9606.ENSP00000369887,SLTM,1034,"SAFB-like transcription modulator; When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis." 9606.ENSP00000369889,COL2A1,1487,"Collagen alpha-1(II) chain; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces." 9606.ENSP00000369895,GEMIN8,242,"Gem-associated protein 8; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] " 9606.ENSP00000369897,CARS1,831,"Cysteine--tRNA ligase, cytoplasmic; cysteinyl-tRNA synthetase 1." 9606.ENSP00000369899,RRAGA,313,Ras-related GTP-binding protein A; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. May play a direct role in a TNF-alpha signaling pathway leading to induction of cell death. May [...] 9606.ENSP00000369907,SAXO1,474,Stabilizer of axonemal microtubules 1; May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature. Belongs to the FAM154 family. 9606.ENSP00000369915,NAP1L4,375,Nucleosome assembly protein 1-like 4; Acts as histone chaperone in nucleosome assembly. Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000369921,ADAMTSL1,1762,ADAMTS-like protein 1; ADAMTS like 1. 9606.ENSP00000369927,AKR1C3,323,"Aldo-keto reductase family 1 member C3; Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone; Belongs to the aldo/keto reductase family." 9606.ENSP00000369948,SLC22A18,424,Solute carrier family 22 member 18; May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000369960,ADRA1A,475,Alpha-1A adrenergic receptor; This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes. Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1A sub-subfamily. 9606.ENSP00000369962,IGSF5,407,"Immunoglobulin superfamily member 5; Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia-spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells-Sertoli cells (By similarity); Belongs to the immunoglobulin superfamily." 9606.ENSP00000369963,C20orf141,165,Uncharacterized protein C20orf141; Chromosome 20 open reading frame 141. 9606.ENSP00000369965,BTF3,206,"Transcription factor BTF3; When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. BTF3 is also a general transcription factor that can form a stable complex with RNA polymerase II. Required for the initiation of transcription." 9606.ENSP00000369967,Q6ZPB1_HUMAN,254,"cDNA FLJ26142 fis, clone TST04526." 9606.ENSP00000369976,EGFL6,554,Epidermal growth factor-like protein 6; May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity). Belongs to the nephronectin family. 9606.ENSP00000369979,CPXM1,734,Probable carboxypeptidase X1; May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity). 9606.ENSP00000369981,SH3GL2,352,Endophilin-A1; Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes. 9606.ENSP00000369989,KATNAL1,490,"Katanin p60 ATPase-containing subunit A-like 1; Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). Has microtubule- severing activity in vitro. Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 1 sub-subfamily." 9606.ENSP00000369996,ATXN3L,355,Ataxin-3-like protein; Deubiquitinating enzyme that cleaves both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro). 9606.ENSP00000370003,BNIP3L,219,"BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like; Induces apoptosis. Interacts with viral and cellular anti- apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIE [...] " 9606.ENSP00000370010,TMSB4X,44,Hematopoietic system regulatory peptide; Plays an important role in the organization of the cytoskeleton (By similarity). Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization. 9606.ENSP00000370013,PTCD2,388,"Pentatricopeptide repeat-containing protein 2, mitochondrial; Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function." 9606.ENSP00000370021,CNTLN,1406,Centlein; Required for centrosome cohesion and recruitment of CEP68 to centrosomes. 9606.ENSP00000370022,EBF4,598,Transcription factor COE4; Transcriptional factor which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'; Belongs to the COE family. 9606.ENSP00000370023,HADHA,763,"Trifunctional enzyme subunit alpha, mitochondrial; Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway. The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA. Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional en [...] " 9606.ENSP00000370034,TLR7,1049,"Toll-like receptor 7; Key component of innate and adaptive immunity. TLRs (Toll- like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR7 is a nucleotide-sensing TLR which is activated by single-stranded RNA. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity)." 9606.ENSP00000370047,BNC2,1099,Zinc finger protein basonuclin-2; Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes. 9606.ENSP00000370055,UBL3,117,Ubiquitin-like protein 3; Ubiquitin like 3. 9606.ENSP00000370057,FRMPD4,1322,"FERM and PDZ domain-containing protein 4; Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate." 9606.ENSP00000370058,C9orf92,108,Putative uncharacterized protein C9orf92; Chromosome 9 open reading frame 92. 9606.ENSP00000370074,SERPINB9,376,Serpin B9; Granzyme B inhibitor. 9606.ENSP00000370077,CCDC171,1326,Coiled-coil domain containing 171. 9606.ENSP00000370078,PDE4A,886,"cAMP-specific 3',5'-cyclic phosphodiesterase 4A; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes." 9606.ENSP00000370083,SMN1,294,"Survival motor neuron protein; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the ch [...] " 9606.ENSP00000370088,AMELX,205,"Amelogenin, X isoform; Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel; Belongs to the amelogenin family." 9606.ENSP00000370114,PSIP1,530,PC4 and SFRS1-interacting protein; Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre- mRNA splicing. Cellular cofactor for lentiviral integration. 9606.ENSP00000370115,SERPINB1,379,"Leukocyte elastase inhibitor; Neutrophil serine protease inhibitor that plays an essential role in the regulation of the innate immune response, inflammation and cellular homeostasis. Acts primarily to protect the cell from proteases released in the cytoplasm during stress or infection. These proteases are important in killing microbes but when released from granules, these potent enzymes also destroy host proteins and contribute to mortality. Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3. Acts also as a [...] " 9606.ENSP00000370119,SMN2,294,"Survival of motor neuron 2, centromeric." 9606.ENSP00000370125,HMGN1,100,Non-histone chromosomal protein HMG-14; Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity). Belongs to the HMGN family. 9606.ENSP00000370126,SERF1B,110,Small EDRK-rich factor 1B. 9606.ENSP00000370128,SLC7A1,629,"High affinity cationic amino acid transporter 1; High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues." 9606.ENSP00000370129,AKR1C2,323,"Aldo-keto reductase family 1 member C2; Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5- beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha- androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability." 9606.ENSP00000370139,HCCS,268,Cytochrome c-type heme lyase; Links covalently the heme group to the apoprotein of cytochrome c. 9606.ENSP00000370150,WRNIP1,665,"ATPase WRNIP1; Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG- I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS." 9606.ENSP00000370192,SLC46A3,463,Solute carrier family 46 member 3; Belongs to the major facilitator superfamily. SLC46A family. 9606.ENSP00000370193,TAF9,264,"Transcription initiation factor TFIID subunit 9; Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription." 9606.ENSP00000370194,GMDS,372,"GDP-mannose 4,6 dehydratase; Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6- deoxy-D-mannose; Belongs to the NAD(P)-dependent epimerase/dehydratase family. GDP-mannose 4,6-dehydratase subfamily." 9606.ENSP00000370196,SBF1,1893,"Myotubularin-related protein 5; Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location. May function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily." 9606.ENSP00000370200,SNAPC3,411,"snRNA-activating protein complex subunit 3; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box; Belongs to the SNAPC3/SRD2 family." 9606.ENSP00000370201,AK6,172,"Adenylate kinase isoenzyme 6; Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. AMP and dAMP are the preferred substrates, but CMP and dCMP are also good substrates. IMP is phosphorylated to a much lesser extent. All nucleoside triphosphates ATP, GTP, UTP, CTP, dATP, dCTP, dGTP, and TTP are accepted as phosphate donors. CTP is the best phosphate donor, followed by UTP, ATP, GTP and dCTP. May have a role in nuclear energy homeostasis. Has also ATPase activity [...] " 9606.ENSP00000370208,RABGEF1,505,"Rab5 GDP/GTP exchange factor; Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By similarity)." 9606.ENSP00000370213,CLCN4,760,H(+)/Cl(-) exchange transporter 4; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Belongs to the chloride channel (TC 2.A.49) family. ClC- 4/CLCN4 subfamily. 9606.ENSP00000370214,CENPO,300,"Centromere protein O; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex." 9606.ENSP00000370215,NOXRED1,359,NADP-dependent oxidoreductase domain-containing protein 1; Probable oxidoreductase. 9606.ENSP00000370222,POMP,141,Proteasome maturation protein; Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum; Belongs to the POMP/UMP1 family. 9606.ENSP00000370224,PARM1,310,"Prostate androgen-regulated mucin-like protein 1; May regulate TLP1 expression and telomerase activity, thus enabling certain prostatic cells to resist apoptosis." 9606.ENSP00000370242,WWC3,1092,Protein WWC3; WWC family member 3. 9606.ENSP00000370253,NKX3-1,234,"Homeobox protein Nkx-3.1; Transcription factor, which binds preferentially the consensus sequence 5'-TAAGT[AG]-3' and can behave as a transcriptional repressor. Plays an important role in normal prostate development, regulating proliferation of glandular epithelium and in the formation of ducts in prostate. Acts as a tumor suppressor controlling prostate carcinogenesis, as shown by the ability to inhibit proliferation and invasion activities of PC-3 prostate cancer cells. Belongs to the NK-3 homeobox family." 9606.ENSP00000370254,AKR1C1,323,"Aldo-keto reductase family 1 member C1; Converts progesterone to its inactive form, 20-alpha- dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation; Belongs to the aldo/keto reductase family." 9606.ENSP00000370258,EIF3CL,914,"Eukaryotic translation initiation factor 3 subunit C-like protein; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-term [...] " 9606.ENSP00000370270,ESRRB,508,"Steroid hormone receptor ERR2; [Isoform 3]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOME [...] " 9606.ENSP00000370288,SELENOO,669,"Protein adenylyltransferase SelO, mitochondrial; Catalyzes the transfer of adenosine 5'-monophosphate (AMP) to Ser, Thr and Tyr residues of target proteins (AMPylation). May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein. Belongs to the SELO family." 9606.ENSP00000370293,HUS1B,278,Checkpoint protein HUS1B; HUS1 checkpoint clamp component B; Belongs to the HUS1 family. 9606.ENSP00000370297,CER1,267,Cerberus; Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP- inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity); Belongs to the DAN family. 9606.ENSP00000370299,SHROOM2,1616,"Protein Shroom2; May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity). Belongs to the shroom family." 9606.ENSP00000370303,ZDHHC21,265,"Palmitoyltransferase ZDHHC21; Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity); Belongs to the DHHC palmitoyltransferase family." 9606.ENSP00000370337,CEP152,1710,"Centrosomal protein of 152 kDa; Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure. Also plays a key role in deuterosome-mediated centriole [...] " 9606.ENSP00000370340,NFIB,494,"Nuclear factor 1 B-type; Transcriptional activator of GFAP, essential for proper brain development. Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. Belongs to the CTF/NF-I family." 9606.ENSP00000370343,IRF4,451,"Interferon regulatory factor 4; Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA- 3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 and [...] " 9606.ENSP00000370345,PAN3,887,"PAN2-PAN3 deadenylation complex subunit PAN3; Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA deca [...] " 9606.ENSP00000370372,NLN,704,"Neurolysin, mitochondrial; Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A; Belongs to the peptidase M3 family." 9606.ENSP00000370373,FKBP1B,108,Peptidyl-prolyl cis-trans isomerase FKBP1B; Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the FKBP-type PPIase family. FKBP1 subfamily. 9606.ENSP00000370376,DUT,252,"Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial; This enzyme is involved in nucleotide metabolism: it produces dUMP, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dUTP so that uracil cannot be incorporated into DNA." 9606.ENSP00000370377,PITRM1,1038,"Presequence protease, mitochondrial; Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing. Has an ATP-independent activity. Specifically cleaves peptides in the range of 5 to 65 residues. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference. Degrades the transit peptides of mitochondrial proteins after their cleavage. Also degrades other unstructured peptides. It is also able to degrade amyloid-beta protein 40, one of the peptides produ [...] " 9606.ENSP00000370394,RUFY3,620,Protein RUFY3; Plays a role in the generation of neuronal polarity formation and axon growth (By similarity). Implicated in the formation of a single axon by developing neurons (By similarity). May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Plays a role in the formation of F-actin- enriched protrusive structures at the cell periphery. Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones (By similarity). Promotes gastric cancer cell migration and inv [...] 9606.ENSP00000370395,SGTB,304,Small glutamine-rich tetratricopeptide repeat-containing protein beta; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity. 9606.ENSP00000370408,CDX2,313,Homeobox protein CDX-2; Involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA. 9606.ENSP00000370419,TTC38,469,Tetratricopeptide repeat domain 38; Belongs to the TTC38 family. 9606.ENSP00000370420,VCX3B,246,Variable charge X-linked protein 3B; May mediate a process in spermatogenesis or may play a role in sex ratio distortion. 9606.ENSP00000370421,PDX1,283,"Pancreas/duodenum homeobox protein 1; Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development [...] " 9606.ENSP00000370430,PNPLA4,253,Patatin-like phospholipase domain-containing protein 4; Lipid hydrolase. 9606.ENSP00000370443,ADAMTS6,1117,ADAM metallopeptidase with thrombospondin type 1 motif 6. 9606.ENSP00000370447,VCX,206,Variable charge X-linked protein 1; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Belongs to the VCX/VCY family. 9606.ENSP00000370460,CWC27,472,"Spliceosome-associated protein CWC27 homolog; As part of the spliceosome, plays a role in pre-mRNA splicing. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity." 9606.ENSP00000370473,IGFBP3,297,Insulin-like growth factor-binding protein 3; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R. 9606.ENSP00000370479,VCX3A,186,Variable charge X-linked protein 3; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Belongs to the VCX/VCY family. 9606.ENSP00000370483,NLGN4X,816,"Neuroligin-4, X-linked; Putative neuronal cell surface protein involved in cell-cell- interactions; Belongs to the type-B carboxylesterase/lipase family." 9606.ENSP00000370503,CCM2,465,Cerebral cavernous malformations 2 protein; Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity). 9606.ENSP00000370508,MTIF3,278,"Translation initiation factor IF-3, mitochondrial; IF-3 binds to the 28S ribosomal subunit and shifts the equilibrum between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins." 9606.ENSP00000370517,PFKP,784,"ATP-dependent 6-phosphofructokinase, platelet type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily." 9606.ENSP00000370519,ARSF,590,Arylsulfatase F. 9606.ENSP00000370521,AIPL1,384,Aryl-hydrocarbon-interacting protein-like 1; May be important in protein trafficking and/or protein folding and stabilization. 9606.ENSP00000370522,ARSH,562,Arylsulfatase family member H. 9606.ENSP00000370527,RCAN1,277,Calcipressin-1; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity). 9606.ENSP00000370531,ACOT6,207,"Putative acyl-coenzyme A thioesterase 6; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. It is unclear if human acyl-coenzyme A thioesterase 6/ACOT6 has an acyl-CoA thioesterase (Probable); Belongs to the C/M/P thioester hydrolase family." 9606.ENSP00000370532,GTF3A,365,Transcription factor IIIA; Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III- dependent transcription and may also maintain the transcription of other genes. Also binds the transcribed 5S RNA's (By similarity). 9606.ENSP00000370542,SDC1,310,Syndecan-1; Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP. 9606.ENSP00000370543,SLC5A3,718,Sodium/myo-inositol cotransporter; Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. 9606.ENSP00000370546,ARSD,593,Arylsulfatase D. 9606.ENSP00000370555,GYG2,501,"Glycogenin-2; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. Belongs to the glycosyltransferase 8 family. Glycogenin subfamily." 9606.ENSP00000370557,MIS12,205,Protein MIS12 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis. Essential for proper kinetochore microtubule attachments. 9606.ENSP00000370568,SHISAL1,199,Protein shisa-like-1; Shisa like 1. 9606.ENSP00000370571,TH,528,Tyrosine 3-monooxygenase; Plays an important role in the physiology of adrenergic neurons. 9606.ENSP00000370588,CD99,185,"CD99 antigen; Involved in T-cell adhesion processes and in spontaneous rosette formation with erythrocytes. Plays a role in a late step of leukocyte extravasation helping leukocytes to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1. Involved in T-cell adhesion processes (By similarity)." 9606.ENSP00000370589,NOP56,594,"Nucleolar protein 56; Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs. Belongs to the NOP5/NOP56 family." 9606.ENSP00000370593,PTPRD,1912,Receptor-type tyrosine-protein phosphatase delta; Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2; Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily. 9606.ENSP00000370607,TECRL,363,"trans-2,3-enoyl-CoA reductase like." 9606.ENSP00000370621,ZBED1,694,"Zinc finger BED domain-containing protein 1; Binds to 5'-TGTCG[CT]GA[CT]A-3' DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity." 9606.ENSP00000370624,MIER3,555,Mesoderm induction early response protein 3; Transcriptional repressor. 9606.ENSP00000370625,POLR2B,1174,DNA-directed RNA polymerase II subunit RPB2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB2 is [...] 9606.ENSP00000370635,SLC39A14,492,Zinc transporter ZIP14; Broad-scope metal ion transporter with a preference for zinc uptake. Also mediates cellular uptake of nontransferrin-bound iron. 9606.ENSP00000370639,ASMT,373,"Acetylserotonin O-methyltransferase; Isoform 1 catalyzes the transfer of a methyl group onto N- acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). Isoform 2 and isoform 3 lack enzyme activity. Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family." 9606.ENSP00000370648,RDH14,336,"Retinol dehydrogenase 14; Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid; Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000370653,GEN1,908,"Flap endonuclease GEN homolog 1; Endonuclease which resolves Holliday junctions (HJs) by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation. Cleaves HJs by a nick and counter- nick mechanism involving dual coordinated incisions that lead to the formation of ligatable nicked duplex products. Cleavage of [...] " 9606.ENSP00000370669,SLC8A3,927,"Sodium/calcium exchanger 3; Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels r [...] " 9606.ENSP00000370671,KLHL42,505,Kelch-like protein 42; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis. 9606.ENSP00000370673,MANSC4,340,MANSC domain containing 4. 9606.ENSP00000370695,EXOC1,894,Exocyst complex component 1; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. 9606.ENSP00000370697,P2RY8,359,P2Y purinoceptor 8; Probable receptor for purines coupled to G-proteins. 9606.ENSP00000370698,IL6ST,918,"Interleukin-6 receptor subunit beta; Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activates Janus kinases. That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3. Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Does not bind IL6 [...] " 9606.ENSP00000370710,KDM4C,1056,"Lysine-specific demethylase 4C; Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate." 9606.ENSP00000370713,ADARB2,739,"Double-stranded RNA-specific editase B2; Lacks editing activity. It prevents the binding of other ADAR enzymes to targets in vitro, and decreases the efficiency of these enzymes. Capable of binding to dsRNA but also to ssRNA." 9606.ENSP00000370718,ASMTL,621,"Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein; Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo- UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP. May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids. In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methy [...] " 9606.ENSP00000370719,ITSN1,1721,"Intersectin-1; Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery. Acts as guanine nucleotide exchange factor (GEF) for CDC42, and thereby stimulates actin nucleation mediated by WASL and the ARP2/3 complex. Plays a role in the assembly and maturation of clathrin-coated vesicles (By similarity). Recruits FCHSD2 to clathrin-coated pits. Involved in endocytosis of activated EGFR, and probably also other growth factor receptors (By similarity). Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); inter [...] " 9606.ENSP00000370724,FAM49A,323,Protein FAM49A; Belongs to the FAM49 family. 9606.ENSP00000370736,TMEM165,324,"Transmembrane protein 165; May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation." 9606.ENSP00000370737,GLDC,1020,"Glycine dehydrogenase (decarboxylating), mitochondrial; The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH)." 9606.ENSP00000370744,ITPR2,2701,"Inositol 1,4,5-trisphosphate receptor type 2; Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity)." 9606.ENSP00000370745,DDX1,740,"ATP-dependent RNA helicase DDX1; Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double- strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 express [...] " 9606.ENSP00000370748,IDI1,284,"Isopentenyl-diphosphate Delta-isomerase 1; Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP)." 9606.ENSP00000370750,RDH11,318,"Retinol dehydrogenase 11; Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol. Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal. Has no dehydrogenase activity towards steroid." 9606.ENSP00000370767,GP2,537,Pancreatic secretory granule membrane major glycoprotein GP2; Glycoprotein 2. 9606.ENSP00000370770,C17orf107,190,Uncharacterized protein C17orf107; Chromosome 17 open reading frame 107. 9606.ENSP00000370781,CDC20B,519,Cell division cycle 20B; Belongs to the WD repeat CDC20/Fizzy family. 9606.ENSP00000370800,MBD3L2,208,methyl-CpG binding domain protein 3 like 2; Belongs to the MBD3L family. 9606.ENSP00000370801,MBD3L4,208,methyl-CpG binding domain protein 3 like 4. 9606.ENSP00000370803,CCP110,1012,Centriolar coiled-coil protein of 110 kDa; Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation. Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and geno [...] 9606.ENSP00000370808,SLC25A6,298,"ADP/ATP translocase 3, N-terminally processed; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis." 9606.ENSP00000370812,ESM1,184,Endothelial cell-specific molecule 1; Involved in angiogenesis; promotes angiogenic sprouting. May have potent implications in lung endothelial cell-leukocyte interactions. 9606.ENSP00000370826,HR,1189,"Lysine-specific demethylase hairless; Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle." 9606.ENSP00000370839,SGCB,318,"Beta-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix." 9606.ENSP00000370842,IL33,270,"Interleukin-33 (109-270); Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an 'alarmin', that amplifies immune responses during tissue injury. Belongs to the IL-1 family. Highly divergent." 9606.ENSP00000370849,ITPRIPL2,535,"Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2; ITPRIP like 2." 9606.ENSP00000370867,TGM3,693,"Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain; Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cros [...] " 9606.ENSP00000370882,OCIAD1,245,"OCIA domain-containing protein 1; Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer. Belongs to the OCIAD1 family." 9606.ENSP00000370886,MLANA,118,"Melanoma antigen recognized by T-cells 1; Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes." 9606.ENSP00000370889,DENND1C,801,"DENN domain-containing protein 1C; Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form." 9606.ENSP00000370891,STK35,534,Serine/threonine kinase 35. 9606.ENSP00000370896,GREB1,1949,Protein GREB1; May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers. 9606.ENSP00000370908,NPIPA9-2,369,"Nuclear pore complex-interacting protein family, member A9." 9606.ENSP00000370912,TEC,631,"Tyrosine-protein kinase Tec; Non-receptor tyrosine kinase that contributes to signaling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. Required for TCR- dependent IL2 gene induction. Phosphorylates DOK1, one CD28-specific substrate, and contributes to CD28-signaling. Mediates signals that negatively regulate [...] " 9606.ENSP00000370936,E2F6,281,"Transcription factor E2F6; Inhibitor of E2F-dependent transcription. Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'- TTTC[CG]CGC-3'. Has a preference for the 5'-TTTCCCGC-3' E2F recognition site. E2F6 lacks the transcriptional activation and pocket protein binding domains. Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overex [...] " 9606.ENSP00000370938,CDK8,464,"Cyclin-dependent kinase 8; Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C- terminal domain) of the l [...] " 9606.ENSP00000370950,NPSR1,390,Neuropeptide S receptor; G-protein coupled receptor for neuropeptide S (NPS). Promotes mobilization of intracellular Ca(2+) stores. Inhibits cell growth in response to NPS binding. Involved in pathogenesis of asthma and other IgE- mediated diseases. 9606.ENSP00000370962,GGT6,499,Glutathione hydrolase 6 heavy chain; Cleaves glutathione conjugates; Belongs to the gamma-glutamyltransferase family. 9606.ENSP00000370966,CRYZL1,349,Quinone oxidoreductase-like protein 1; Crystallin zeta like 1; Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. 9606.ENSP00000370968,MYBBP1A,1332,"Myb-binding protein 1A; May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1. Belongs to the MYBBP1A family." 9606.ENSP00000370975,TNNT3,261,"Troponin T, fast skeletal muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity." 9606.ENSP00000370978,CRLF2,371,Cytokine receptor-like factor 2; Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2 (By similarity). Implicated in the development of the hematopoietic system; Belongs to the type I cytokine receptor family. Type 5 subfamily. 9606.ENSP00000370980,ENSP00000370980,386,Novel protein. 9606.ENSP00000370981,LZTS1,596,Leucine zipper putative tumor suppressor 1; Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor. 9606.ENSP00000370984,COMMD8,183,COMM domain-containing protein 8; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF- kappa-B. 9606.ENSP00000370989,CD274,290,"Programmed cell death 1 ligand 1; Plays a critical role in induction and maintenance of immune tolerance to self. As a ligand for the inhibitory receptor PDCD1/PD-1, modulates the activation threshold of T-cells and limits T-cell effector response. Through a yet unknown activating receptor, may costimulate T-cell subsets that predominantly produce interleukin-10 (IL10)." 9606.ENSP00000370990,SHOX,292,Short stature homeobox protein; Controls fundamental aspects of growth and development; Belongs to the paired homeobox family. Bicoid subfamily. 9606.ENSP00000370997,C2orf50,162,Uncharacterized protein C2orf50; Chromosome 2 open reading frame 50. 9606.ENSP00000371000,RNF6,685,E3 ubiquitin-protein ligase RNF6; E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates 'Lys-6' and 'Lys- 27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator. 9606.ENSP00000371003,ZMYND11,602,Zinc finger MYND domain-containing protein 11; Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA. Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth. 9606.ENSP00000371018,SIRPB1,398,Signal-regulatory protein beta-1; Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Participates also in the recruitment of tyrosine kinase SYK. Triggers activation of myeloid cells when associated with TYROBP. 9606.ENSP00000371036,SIRPD,197,Signal regulatory protein delta. 9606.ENSP00000371037,CATSPERD,798,"Cation channel sperm-associated protein subunit delta; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane." 9606.ENSP00000371040,RLN2,185,"Relaxin A chain; Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix." 9606.ENSP00000371051,ZZEF1,2961,Zinc finger ZZ-type and EF-hand domain containing 1. 9606.ENSP00000371054,INSL6,213,Insulin-like peptide INSL6 A chain; May have a role in sperm development and fertilization. 9606.ENSP00000371061,C5orf51,294,UPF0600 protein C5orf51; Chromosome 5 open reading frame 51; Belongs to the UPF0600 family. 9606.ENSP00000371067,JAK2,1132,"Tyrosine-protein kinase JAK2; Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN- beta, IFN-gamma and multiple interleukins. Following ligand-binding to cell surface receptors [...] " 9606.ENSP00000371070,ATP8A2,1188,"Phospholipid-transporting ATPase IB; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). [...] " 9606.ENSP00000371073,PLCXD1,323,PI-PLC X domain-containing protein 1; Phosphatidylinositol specific phospholipase C X domain containing 1. 9606.ENSP00000371084,ATP8A1,1164,"Phospholipid-transporting ATPase IA; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in r [...] " 9606.ENSP00000371085,BAIAP2L2,529,"Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2; Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity)." 9606.ENSP00000371101,NOL10,688,Nucleolar protein 10; Belongs to the WD repeat NOL10/ENP2 family. 9606.ENSP00000371110,GCAT,445,"2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; Glycine C-acetyltransferase; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000371116,NUTM2D,806,NUT family member 2D; Belongs to the NUT family. 9606.ENSP00000371117,GAGE12E,117,G antigen 12E; Belongs to the GAGE family. 9606.ENSP00000371126,NUTM2A,878,NUT family member 2A. 9606.ENSP00000371133,HMG20A,347,High mobility group protein 20A; Plays a role in neuronal differentiation as chromatin- associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity). 9606.ENSP00000371141,GAGE12H,117,G antigen 12H. 9606.ENSP00000371152,ASAH1,411,"Acid ceramidase subunit alpha; Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. For the reverse syntheti [...] " 9606.ENSP00000371155,NUP58,599,"Nucleoporin p58/p45; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane. Belongs to the NUP58 family." 9606.ENSP00000371169,RCL1,373,"RNA 3'-terminal phosphate cyclase-like protein; Does not have cyclase activity. Plays a role in 40S- ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity)." 9606.ENSP00000371175,GGA1,656,ADP-ribosylation factor-binding protein GGA1; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif. Mediates export of the GPCR receptor ADRA2B to the cell surface. Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endo [...] 9606.ENSP00000371180,CATSPER2,534,"Cation channel sperm-associated protein 2; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Belongs to the cation channel sperm-associated (TC 1.A.1.19) family." 9606.ENSP00000371188,CAMKK1,532,"Calcium/calmodulin-dependent protein kinase kinase 1; Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2- antagonist of cell death." 9606.ENSP00000371193,CPPED1,314,"Serine/threonine-protein phosphatase CPPED1; Protein phosphatase that dephosphorylates AKT family kinase specifically at 'Ser-473', blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes." 9606.ENSP00000371194,LSP1,467,Lymphocyte-specific protein 1; May play a role in mediating neutrophil activation and chemotaxis. 9606.ENSP00000371200,ARRDC5,342,Arrestin domain containing 5; Belongs to the arrestin family. 9606.ENSP00000371201,NSUN7,718,Putative methyltransferase NSUN7; May have S-adenosyl-L-methionine-dependent methyl-transferase activity; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. 9606.ENSP00000371219,RHOH,191,"Rho-related GTP-binding protein RhoH; Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturat [...] " 9606.ENSP00000371221,MTMR6,621,"Myotubularin-related protein 6; Phosphatase that acts on lipids with a phosphoinositol headgroup. Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate (Probable). Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine. Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with M [...] " 9606.ENSP00000371230,AK3,227,"GTP:AMP phosphotransferase AK3, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities; Belongs to the adenylate kinase family. AK3 subfamily." 9606.ENSP00000371233,SDCBP2,292,"Syntenin-2; Binds phosphatidylinositol 4,5-bisphosphate (PIP2). May play a role in the organization of nuclear PIP2, cell division and cell survival." 9606.ENSP00000371234,CYS1,158,Cystin-1; Cystin 1. 9606.ENSP00000371253,GART,1010,"Trifunctional purine biosynthetic protein adenosine-3; Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase; In the central section; belongs to the AIR synthase family." 9606.ENSP00000371267,YWHAQ,245,"14-3-3 protein theta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1; Belongs to the 14-3-3 family." 9606.ENSP00000371272,PLIN5,463,"Perilipin-5; Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hyd [...] " 9606.ENSP00000371278,CDC37L1,337,Hsp90 co-chaperone Cdc37-like 1; Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90. 9606.ENSP00000371291,SNPH,538,Syntaphilin; Inhibits SNARE complex formation by absorbing free syntaxin- 1. 9606.ENSP00000371294,CTNS,400,"Cystinosin; Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR; Belongs to the cystinosin family." 9606.ENSP00000371307,PLPP6,295,"Phospholipid phosphatase 6; Phosphatase that dephosphorylates presqualene diphosphate (PSDP) into presqualene monophosphate (PSMP), suggesting that it may be indirectly involved in innate immunity. PSDP is a bioactive lipid that rapidly remodels to presqualene monophosphate PSMP upon cell activation. Displays diphosphate phosphatase activity with a substrate preference for PSDP > FDP > phosphatidic acid. Belongs to the PA-phosphatase related phosphoesterase family." 9606.ENSP00000371308,CENPJ,1338,Centromere protein J; Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles. Required for centriole elongation and for STIL-mediated centriole amplification. Required for the recruitment of CEP295 to the proximal end of new-born [...] 9606.ENSP00000371318,TMEM74B,256,Transmembrane protein 74B. 9606.ENSP00000371321,RFC1,1148,Replication factor C subunit 1; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA. 9606.ENSP00000371327,KLRC2,231,NKG2-C type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. 9606.ENSP00000371328,KLRC3,257,Killer cell lectin like receptor C3. 9606.ENSP00000371336,TNNI2,182,"Troponin I, fast skeletal muscle; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity." 9606.ENSP00000371341,TNK2,1086,"Activated CDC42 kinase 1; Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylates AKT1, AR, MCF2, WASL and WWOX. Implicated in trafficking and clathrin-mediated endocytosis through binding to epidermal growth factor receptor (EGFR) and clathrin. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR, thereby contributing to the accumulation of EGFR at the limiting [...] " 9606.ENSP00000371345,METTL22,404,Methyltransferase-like protein 22; Protein N-lysine methyltransferase. In vitro methylates KIN. Belongs to the methyltransferase superfamily. METTL22 family. 9606.ENSP00000371347,ANGPT4,503,"Angiopoietin-4; Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis." 9606.ENSP00000371348,TMEM52B,183,Transmembrane protein 52B. 9606.ENSP00000371362,NADK2,442,"NAD kinase 2, mitochondrial; Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo." 9606.ENSP00000371364,TMEM156,296,Transmembrane protein 156. 9606.ENSP00000371377,OR1A2,309,Olfactory receptor 1A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000371388,SRXN1,137,"Sulfiredoxin-1; Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase. Belongs to the sulfiredoxin family." 9606.ENSP00000371393,PGM2,612,"Phosphoglucomutase-2; Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5- phosphopentoses. May also catalyze the interconversion of glucose-1- phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity; Belongs to the phosphohexose mutase family." 9606.ENSP00000371394,SYT8,401,Synaptotagmin-8; Isoform 4 may play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)- regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity); Belongs to the synaptotagmin family. 9606.ENSP00000371397,FAM43A,423,Protein FAM43A; Family with sequence similarity 43 member A; Belongs to the FAM43 family. 9606.ENSP00000371398,GLIS3,930,Zinc finger protein GLIS3; Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). 9606.ENSP00000371408,C4orf19,314,Uncharacterized protein C4orf19; Chromosome 4 open reading frame 19. 9606.ENSP00000371419,PARP4,1724,Protein mono-ADP-ribosyltransferase PARP4; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins. 9606.ENSP00000371420,GPNMB,572,Transmembrane glycoprotein NMB; Could be a melanogenic enzyme; Belongs to the PMEL/NMB family. 9606.ENSP00000371425,IFNGR2,356,Interferon gamma receptor 2; Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG). Ligand binding stimulates activation of the JAK/STAT signaling pathway. Required for signal transduction in contrast to other receptor subunit responsible for ligand binding. 9606.ENSP00000371434,RFX3,749,"Transcription factor RFX3; Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). [...] " 9606.ENSP00000371451,DNAJC21,576,"DnaJ homolog subfamily C member 21; May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA." 9606.ENSP00000371469,RAD1,282,Cell cycle checkpoint protein RAD1; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavag [...] 9606.ENSP00000371471,RSAD2,361,"Radical S-adenosyl methionine domain-containing protein 2; Interferon-inducible iron-sulfur (4FE-4S) cluster-binding antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Can inhibit a wide range of DNA and RNA viruses, including human cytomegalovirus (HCMV), hepatitis C virus (HCV), west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus, vesicular stomatitis virus (VSV), and human immunodeficiency virus (HIV-1). Displays antiviral activity against influenza A virus by inhibiting the budding of the [...] " 9606.ENSP00000371472,NIN,2090,"Ninein; Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules. Required for centriole organization and microtubule anchoring at the mother centriole." 9606.ENSP00000371475,TP53BP1,1977,"TP53-binding protein 1; Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)- mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs s [...] " 9606.ENSP00000371483,SLC34A2,690,Sodium-dependent phosphate transport protein 2B; May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli; Belongs to the SLC34A transporter family. 9606.ENSP00000371497,C1QTNF3,319,Complement C1q tumor necrosis factor-related protein 3; C1q and TNF related 3. 9606.ENSP00000371503,C1QTNF9,333,"Complement C1q and tumor necrosis factor-related protein 9A; Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways." 9606.ENSP00000371505,CLEC6A,209,"C-type lectin domain family 6 member A; Binds high-mannose carbohydrates in a Ca(2+)-dependent manner. Functional receptor for alpha-mannans on C.albicans hypheas. Plays an important role in the host defense against C.albicans infection by inducing TH17 cell differentiation. Recognizes also, in a mannose-dependent manner, allergens from house dust mite and fungi, by promoting cysteinyl leukotriene production. Recognizes soluble elements from the eggs of Shistosoma mansoni altering adaptive immune responses. Transduces signals through an Fc receptor gamma chain /FCER1G and Syk- CARD9-NF [...] " 9606.ENSP00000371512,SGCZ,312,"Zeta-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity)." 9606.ENSP00000371514,KCNV2,545,Potassium voltage-gated channel subfamily V member 2; Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values; Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily. 9606.ENSP00000371517,AMACR,394,"Alpha-methylacyl-CoA racemase; Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters. Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2- (4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs ; Belongs to the CoA-transferase III family." 9606.ENSP00000371529,C22orf42,251,Uncharacterized protein C22orf42; Chromosome 22 open reading frame 42. 9606.ENSP00000371532,VLDLR,873,"Very low-density lipoprotein receptor; Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity)." 9606.ENSP00000371535,SEPSECS,501,O-phosphoseryl-tRNA(Sec) selenium transferase; Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl- tRNA(Sec) required for selenoprotein biosynthesis. Belongs to the SepSecS family. 9606.ENSP00000371548,LGI2,545,Leucine-rich repeat LGI family member 2; Required for the development of soma-targeting inhibitory GABAergic synapses made by parvalbumin-positive basket cells. 9606.ENSP00000371553,NANOGNB,188,NANOG neighbor homeobox. 9606.ENSP00000371554,SOD3,240,Extracellular superoxide dismutase [Cu-Zn]; Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen. 9606.ENSP00000371572,C1QTNF9B,333,"Complement C1q and tumor necrosis factor-related protein 9B; Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways." 9606.ENSP00000371577,MTMR12,747,"Myotubularin-related protein 12; Acts as an adapter for the myotubularin-related phosphatases. Regulates phosphatase MTM1 protein stability and possibly its intracellular location. By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity). Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily." 9606.ENSP00000371587,KCNIP4,250,"Kv channel-interacting protein 4; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. Modulates KCND3/Kv4.3 currents. Isoform 4 does not increase KCND2 expression at the cell membrane. Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane. Belongs to the recoverin family." 9606.ENSP00000371594,GNG7,68,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilzation of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in t [...] " 9606.ENSP00000371595,KRTAP5-6,129,"Keratin-associated protein 5-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family." 9606.ENSP00000371606,KRTAP5-1,278,"Keratin-associated protein 5-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000371607,MIPEP,713,"Mitochondrial intermediate peptidase; Cleaves proteins, imported into the mitochondrion, to their mature size." 9606.ENSP00000371614,BRSK2,766,"Serine/threonine-protein kinase BRSK2; Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to d [...] " 9606.ENSP00000371638,SMARCA2,1590,"Probable global transcription activator SNF2L2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural develop [...] " 9606.ENSP00000371643,DEFB135,77,Beta-defensin 135; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000371644,DEFB136,78,Beta-defensin 136; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000371661,LCORL,602,Ligand-dependent nuclear receptor corepressor-like protein; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3'. May play a role in spermatogenesis (By similarity). 9606.ENSP00000371682,DCAF16,216,"DDB1- and CUL4-associated factor 16; Functions as a substrate recognition component for CUL4-DDB1 E3 ubiquitin-protein ligase complex, which mediates ubiquitination and proteasome-dependent degradation of nuclear proteins." 9606.ENSP00000371686,DMRT2,561,"Doublesex- and mab-3-related transcription factor 2; Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity)." 9606.ENSP00000371689,CDH12,794,Cadherin-12; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000371693,TNFRSF19,423,Tumor necrosis factor receptor superfamily member 19; Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death. 9606.ENSP00000371710,CDH18,790,Cadherin-18; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000371711,DMRT1,373,"Doublesex- and mab-3-related transcription factor 1; Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and prom [...] " 9606.ENSP00000371715,ZG16B,208,Zymogen granule protein 16B; Belongs to the jacalin lectin family. 9606.ENSP00000371724,BPY2C,106,Basic charge Y-linked 2C. 9606.ENSP00000371728,NRSN2,204,Neurensin-2; May play a role in maintenance and/or transport of vesicles; Belongs to the VMP family. 9606.ENSP00000371729,SACS,4579,Sacsin; Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. 9606.ENSP00000371770,FGFBP1,234,"Fibroblast growth factor-binding protein 1; Acts as a carrier protein that release fibroblast-binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth." 9606.ENSP00000371785,OLIG1,271,"Oligodendrocyte transcription factor 1; Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube (By similarity)." 9606.ENSP00000371786,ONECUT3,494,One cut domain family member 3; Transcriptional activator. Binds the consensus DNA sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR (By similarity); Belongs to the CUT homeobox family. 9606.ENSP00000371790,FGF9,208,"Fibroblast growth factor 9; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors; Belongs to the heparin-binding growth factors family." 9606.ENSP00000371798,FSCN1,493,"Fascin; Actin-binding protein that contains 2 major actin binding sites. Organizes filamentous actin into parallel bundles. Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers. Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration. Mediates reorganization of the actin cytoskeleton and axon growth cone collapse in response to NGF." 9606.ENSP00000371800,RNF215,377,Ring finger protein 215. 9606.ENSP00000371802,DAZ3,438,Deleted in azoospermia protein 2; RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. 9606.ENSP00000371805,FBXL18,718,F-box/LRR-repeat protein 18; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000371811,MICU2,434,"Calcium uptake protein 2, mitochondrial; Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium. MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF- hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering." 9606.ENSP00000371813,DEFB132,95,Beta-defensin 132; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000371825,DEFB127,99,Beta-defensin 127; Has antibacterial activity. 9606.ENSP00000371829,BPY2B,106,Basic charge Y-linked 2B. 9606.ENSP00000371835,DEFB126,111,Beta-defensin 126; Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other s [...] 9606.ENSP00000371842,CBWD5,395,COBW domain containing 5. 9606.ENSP00000371846,DEAF1,565,"Deformed epidermal autoregulatory factor 1 homolog; Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. [...] " 9606.ENSP00000371847,DEFB125,156,Beta-defensin 125; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000371858,NOP2,845,Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase; Involved in ribosomal large subunit assembly. S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable); Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. 9606.ENSP00000371859,BAZ1A,1556,"Bromodomain adjacent to zinc finger domain protein 1A; Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S pha [...] " 9606.ENSP00000371870,DAZ2,558,Deleted in azoospermia 2. 9606.ENSP00000371872,SLC35G5,338,Solute carrier family 35 member G5. 9606.ENSP00000371875,NKX3-2,333,"Homeobox protein Nkx-3.2; Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity); Belongs to the NK-3 homeobox family." 9606.ENSP00000371886,JMJD7-PLA2G4B,1012,Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7; JMJD7-PLA2G4B readthrough. 9606.ENSP00000371897,ARHGAP5,1502,Rho GTPase-activating protein 5; GTPase-activating protein for Rho family members. 9606.ENSP00000371923,RP1L1,2400,Retinitis pigmentosa 1-like 1 protein; Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity). 9606.ENSP00000371927,GPR78,363,"G-protein coupled receptor 78; Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP." 9606.ENSP00000371929,HTR3D,454,"5-hydroxytryptamine receptor 3D; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand- gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3D sub- subfamily." 9606.ENSP00000371932,TAS2R1,299,"Taste receptor type 2 member 1; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000371936,SEMA5A,1074,"Semaphorin-5A; Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis [...] " 9606.ENSP00000371940,FOXD4,439,Forkhead box D4. 9606.ENSP00000371958,CD9,228,"CD9 antigen; Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion. Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). In myoblasts, associates with CD81 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD81 and beta-1 and beta-2 integrins, and prevents mac [...] " 9606.ENSP00000371985,KCNA1,495,"Potassium voltage-gated channel subfamily A member 1; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney. Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference acros [...] " 9606.ENSP00000371994,NYNRIN,1898,Protein NYNRIN; NYN domain and retroviral integrase containing. 9606.ENSP00000372005,DNAJC19,116,"Mitochondrial import inner membrane translocase subunit TIM14; Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity); Belongs to the TIM14 family." 9606.ENSP00000372023,CHEK2,586,"Serine/threonine-protein kinase Chk2; Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads [...] " 9606.ENSP00000372035,LATS2,1088,"Serine/threonine-protein kinase LATS2; Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus [...] " 9606.ENSP00000372042,PPP2R2C,447,"Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment." 9606.ENSP00000372059,IFITM5,132,Interferon-induced transmembrane protein 5; Required for normal bone mineralization. Belongs to the CD225/Dispanin family. 9606.ENSP00000372067,PRMT8,394,"Protein arginine N-methyltransferase 8; S-adenosyl-L-methionine-dependent and membrane-associated arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA) in proteins such as NIFK, myelin basic protein, histone H4, H2A and H2A/H2B dimer. Able to mono- and dimethylate EWS protein; however its precise role toward EWS remains unclear as it still interacts with fully methylated EWS." 9606.ENSP00000372105,RBMY1E,496,"RNA-binding motif protein, Y chromosome, family 1 member E; RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis." 9606.ENSP00000372112,FAHD1,248,"Acylpyruvase FAHD1, mitochondrial; Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro. Also has oxaloacetate decarboxylase activity." 9606.ENSP00000372127,RBMY1D,496,"RNA-binding motif protein, Y chromosome, family 1 member D; RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis." 9606.ENSP00000372136,DEFA1B,94,"Neutrophil defensin 1; Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane." 9606.ENSP00000372139,DEFA1,94,Defensin alpha 1. 9606.ENSP00000372154,RBMY1A1,496,"RNA-binding motif protein, Y chromosome, family 1 member A1; RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs." 9606.ENSP00000372155,PSME1,250,Proteasome activator complex subunit 1; Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. 9606.ENSP00000372160,DOK6,331,Docking protein 6; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret-mediated neurite growth. May have a role in brain development and/or maintenance. 9606.ENSP00000372169,CACNA2D4,1137,Voltage-dependent calcium channel subunit alpha-2/delta-4; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. 9606.ENSP00000372170,MSX1,303,Homeobox protein MSX-1; Acts as a transcriptional repressor. May play a role in limb- pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity. Belongs to the Msh homeobox family. 9606.ENSP00000372191,SIRT3,399,"NAD-dependent protein deacetylase sirtuin-3, mitochondrial; NAD-dependent protein deacetylase. Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues. Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5PO. Contributes to the regulation of the cellular energy metabolism. Important for regulating tissue-specific ATP levels. In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription. Acts as a reg [...] " 9606.ENSP00000372193,CLCN7,805,H(+)/Cl(-) exchange transporter 7; Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. Belongs to the chloride channel (TC 2.A.49) family. ClC- 7/CLCN7 subfamily. 9606.ENSP00000372199,URB1,2271,Nucleolar pre-ribosomal-associated protein 1; URB1 ribosome biogenesis homolog. 9606.ENSP00000372201,TMEM128,165,Transmembrane protein 128. 9606.ENSP00000372206,EEF1AKMT1,214,EEF1A lysine methyltransferase 1; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79'; Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM5 family. 9606.ENSP00000372210,BET1L,111,BET1-like protein; Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity). 9606.ENSP00000372218,SERPINB12,425,"Serpin B12; Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator; Belongs to the serpin family. Ov-serpin subfamily." 9606.ENSP00000372221,SERPINB5,375,"Serpin B5; Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity; Belongs to the serpin family. Ov-serpin subfamily." 9606.ENSP00000372272,KRTAP19-8,63,"Keratin-associated protein 19-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 19 family." 9606.ENSP00000372274,FBXO25,367,F-box only protein 25; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity). 9606.ENSP00000372276,KRTAP20-3,44,"Keratin-associated protein 20-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 20 family." 9606.ENSP00000372278,KRTAP20-4,44,"Putative keratin-associated protein 20-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 20 family." 9606.ENSP00000372281,KRTAP22-2,45,"Keratin-associated protein 22-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 20 family." 9606.ENSP00000372286,KRTAP27-1,207,"Keratin-associated protein 27-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family." 9606.ENSP00000372295,GJB2,226,"Gap junction beta-2 protein; Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore." 9606.ENSP00000372313,MSLN,630,Megakaryocyte-potentiating factor; Membrane-anchored forms may play a role in cellular adhesion; Belongs to the mesothelin family. 9606.ENSP00000372351,NSD2,1365,Histone-lysine N-methyltransferase NSD2; Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity forming trimethylated 'Lys-27' (H3K27me3). Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. 9606.ENSP00000372361,ZMYM5,382,Zinc finger MYM-type protein 5; Functions as a transcriptional regulator. 9606.ENSP00000372390,SLC7A4,635,"Cationic amino acid transporter 4; Involved in the transport of the cationic amino acids (arginine, lysine and ornithine); Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family." 9606.ENSP00000372394,TMEM129,362,"E3 ubiquitin-protein ligase TM129; E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation." 9606.ENSP00000372410,RNASE13,156,Probable inactive ribonuclease-like protein 13; Does not exhibit any ribonuclease activity; Belongs to the pancreatic ribonuclease family. 9606.ENSP00000372445,METTL17,478,"Methyltransferase-like protein 17, mitochondrial; May be a component of the mitochondrial small ribosomal subunit; Belongs to the methyltransferase superfamily. Rsm22 family." 9606.ENSP00000372459,CTIF,600,"CBP80/20-dependent translation initiation factor; Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the p [...] " 9606.ENSP00000372462,TSPY8,294,Testis specific protein Y-linked 8; Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000372471,TSPY4,300,Testis specific protein Y-linked 4; Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000372482,SNRNP25,132,Small nuclear ribonucleoprotein U11/U12 subunit 25. 9606.ENSP00000372484,RBMY1B,496,"RNA-binding motif protein, Y chromosome, family 1 member B; RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis." 9606.ENSP00000372499,TBL1Y,522,"F-box-like/WD repeat-containing protein TBL1Y; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (By similarity); Belongs to the WD repeat EBI family." 9606.ENSP00000372505,AMELY,206,"Amelogenin, Y isoform; Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel; Belongs to the amelogenin family." 9606.ENSP00000372512,TSPY2,294,Testis specific protein Y-linked 2; Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000372547,SRY,204,Sex-determining region Y protein; Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partia [...] 9606.ENSP00000372649,PRR23A,266,Proline-rich protein 23A; Proline rich 23A; Belongs to the PRR23 family. 9606.ENSP00000372651,FOXL2NB,175,FOXL2 neighbor. 9606.ENSP00000372689,STAG1,1258,"Cohesin subunit SA-1; Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis." 9606.ENSP00000372720,TMEM241,296,Transmembrane protein 241. 9606.ENSP00000372724,LY6G5C,150,Lymphocyte antigen 6 complex locus protein G5c; May have a role in hematopoietic cell differentiation. 9606.ENSP00000372750,CHRM5,532,"Muscarinic acetylcholine receptor M5; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover." 9606.ENSP00000372857,NEK11,645,Serine/threonine-protein kinase Nek11; Protein kinase which plays an important role in the G2/M checkpoint response to DNA damage. Controls degradation of CDC25A by directly phosphorylating it on residues whose phosphorylation is required for BTRC-mediated polyubiquitination and degradation. Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. 9606.ENSP00000372910,LY6G6E,125,Lymphocyte antigen 6 family member G6E. 9606.ENSP00000372924,RALBP1,655,"RalA-binding protein 1; Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4- dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off [...] " 9606.ENSP00000372955,HMCES,354,"Abasic site processing protein HMCES; Sensor of abasic sites in single-stranded DNA (ssDNA) required to preserve genome integrity by promoting error-free repair of abasic sites. Acts as an enzyme that recognizes and binds abasic sites in ssDNA at replication forks and chemically modifies the lesion by forming a covalent cross-link with DNA. The HMCES DNA-protein cross-link is then degraded by the proteasome. Promotes error-free repair of abasic sites by acting as a 'suicide' enzyme that is degraded, thereby protecting abasic sites from translesion synthesis (TLS) polymerases and endonu [...] " 9606.ENSP00000372959,LRRC30,301,Leucine-rich repeat-containing protein 30; Leucine rich repeat containing 30. 9606.ENSP00000373066,TXNRD3NB,133,Protein TXNRD3NB. 9606.ENSP00000373073,UROC1,736,Urocanate hydratase 1. 9606.ENSP00000373153,HACD2,254,"Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursor [...] " 9606.ENSP00000373169,DRD3,400,D(3) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation. 9606.ENSP00000373176,GTPBP8,284,GTP binding protein 8. 9606.ENSP00000373191,LNP1,178,Leukemia NUP98 fusion partner 1. 9606.ENSP00000373194,OR5K3,321,Olfactory receptor 5K3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000373206,EOGT,527,EGF domain-specific O-linked N-acetylglucosamine transferase; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains. Belongs to the glycosyltransferase 61 family. 9606.ENSP00000373215,CADPS,1353,"Calcium-dependent secretion activator 1; Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2- binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in [...] " 9606.ENSP00000373244,CSPG5,566,Chondroitin sulfate proteoglycan 5; May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation. 9606.ENSP00000373272,TRIM71,868,"E3 ubiquitin-protein ligase TRIM71; E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism. Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by repressing CDKN1A expression. Required to maintain proliferation and preven [...] " 9606.ENSP00000373274,ZNF860,632,Zinc finger protein 860; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000373277,RBMS3,437,"RNA-binding motif, single-stranded-interacting protein 3; Binds poly(A) and poly(U) oligoribonucleotides." 9606.ENSP00000373278,ZCWPW2,356,Zinc finger CW-type and PWWP domain containing 2. 9606.ENSP00000373298,COLQ,455,Acetylcholinesterase collagenic tail peptide; Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina; Belongs to the COLQ family. 9606.ENSP00000373301,SH3BP5,455,SH3 domain-binding protein 5; Functions as guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25. Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B- cells. May be involved in BCR-induced apoptotic cell death. 9606.ENSP00000373304,CCDC174,467,Coiled-coil domain-containing protein 174; Probably involved in neuronal development. 9606.ENSP00000373312,SEC13,368,"Protein SEC13 homolog; Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles. Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum (By similarity); Belongs to the WD repeat SEC13 family." 9606.ENSP00000373325,IL17RE,667,Interleukin-17 receptor E; Specific functional receptor for IL17C. May be signaling through the NF-kappa-B and MAPK pathways. May require TRAF3IP2 /ACT1 for signaling. May be a crucial regulator in innate immunity to bacterial pathogens. Isoform 2 and isoform 4 may be either cytoplasmic inactive or dominant active forms. Isoform 3 and isoform 5 may act as soluble decoy receptors. 9606.ENSP00000373328,CIDEC,251,"Cell death activator CIDE-3; Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. May act as a CEBPB coactivator in the white adipose tissue to control the expression of a s [...] " 9606.ENSP00000373331,RPUSD3,351,"Mitochondrial mRNA pseudouridine synthase RPUSD3; Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs), a post- transcriptional modification necessary for their translation. Acts at position 390 in COXI mt-mRNA and at position 697-699 in mitochondrial COXIII mt-mRNA. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and may play a role in mitochondrial ribosome biogenesis ; Belongs to the [...] " 9606.ENSP00000373340,BRPF1,1220,Peregrin; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Preferentially mediates histone H3-K23 acetylation. Positively regulates the transcription of RUNX1 and RUNX2. 9606.ENSP00000373343,CPNE9,553,Copine-9; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes. 9606.ENSP00000373347,SRGAP3,1099,"SLIT-ROBO Rho GTPase-activating protein 3; GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons." 9606.ENSP00000373354,SETMAR,684,"Histone-lysine N-methyltransferase SETMAR; Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double- strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity. In parallel, has a histone methyltransf [...] " 9606.ENSP00000373360,FAM131A,366,Protein FAM131A; Family with sequence similarity 131 member A. 9606.ENSP00000373364,GOLM1,401,Golgi membrane protein 1; Unknown. Cellular response protein to viral infection. 9606.ENSP00000373370,FLG2,2391,Filaggrin-2; Essential for normal cell-cell adhesion in the cornified cell layers. Important for proper integrity and mechanical strength of the stratum corneum of the epidermis. In the N-terminal section; belongs to the S-100 family. 9606.ENSP00000373399,PIP5KL1,394,"Phosphatidylinositol 4-phosphate 5-kinase-like protein 1; May act as a scaffold to localize and regulate type I PI(4)P 5-kinases to specific compartments within the cell, where they generate PI(4,5)P2 for actin nucleation, signaling and scaffold protein recruitment and conversion to PI(3,4,5)P3." 9606.ENSP00000373404,MRPL2,305,Mitochondrial ribosomal protein L2; Belongs to the universal ribosomal protein uL2 family. 9606.ENSP00000373413,UFSP1,142,Inactive Ufm1-specific protease 1; UFM1 specific peptidase 1; Belongs to the peptidase C78 family. 9606.ENSP00000373420,RUFY2,641,RUN and FYVE domain containing 2. 9606.ENSP00000373433,LAMB4,1761,"Laminin subunit beta-4; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000373450,SPAG1,926,Sperm-associated antigen 1; May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity. 9606.ENSP00000373472,ADAMTS7,1686,A disintegrin and metalloproteinase with thrombospondin motifs 7; Metalloprotease that may play a role in the degradation of COMP. 9606.ENSP00000373474,METTL14,456,"N6-adenosine-methyltransferase non-catalytic subunit; The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some mRNAs and regulates the circadian clock, differentiation of embryonic stem cells and cortical neurogenesis. In the heterodimer formed with METTL3, METTL14 constitutes the RNA-binding scaffold that recognizes the substrate rather than the catalytic core. N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability and processing. M6A acts [...] " 9606.ENSP00000373477,GPX3,226,"Glutathione peroxidase 3; Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione." 9606.ENSP00000373489,KRT18,430,"Keratin, type I cytoskeletal 18; Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection." 9606.ENSP00000373518,NOX5,765,"NADPH oxidase 5; Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin." 9606.ENSP00000373539,STAB2,2551,"190 kDa form stabilin-2; Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Acts also, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluid [...] " 9606.ENSP00000373565,FAM83H,1179,"Protein FAM83H; May play a major role in the structural organization and calcification of developing enamel. May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration." 9606.ENSP00000373566,CCDC158,1113,Coiled-coil domain containing 158. 9606.ENSP00000373570,TYRP1,537,"5,6-dihydroxyindole-2-carboxylic acid oxidase; Plays a role in melanin biosynthesis. Catalyzes the oxidation of 5,6-dihydroxyindole-2- carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+). May regulate or influence the type of melanin synthesized. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity)." 9606.ENSP00000373572,FOXI2,318,Forkhead box protein I2; Possible transcriptional activator. 9606.ENSP00000373574,ACVRL1,503,"Serine/threonine-protein kinase receptor R3; Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well." 9606.ENSP00000373575,C6orf163,329,Uncharacterized protein C6orf163; Chromosome 6 open reading frame 163. 9606.ENSP00000373583,STPG3,386,Protein STPG3; Sperm-tail PG-rich repeat containing 3. 9606.ENSP00000373586,MAB21L4,447,Protein mab-21-like 4; Mab-21 like 4. 9606.ENSP00000373594,TMEM266,531,"Transmembrane protein 266; Voltage-sensor protein present on the post-synaptic side of glutamatergic mossy fibers and granule cells in the cerebellum. Despite the presence of a voltage- sensor segment, does not form a functional ion channel and its precise role remains unclear. Undergoes both rapid and slow structural rearrangements in response to changes in voltage. Contains a zinc-binding site that can regulate the slow conformational transition." 9606.ENSP00000373600,LRRK1,2015,Leucine rich repeat kinase 1; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily. 9606.ENSP00000373627,SEPTIN14,432,Septin-14; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). 9606.ENSP00000373640,HYKK,373,Hydroxylysine kinase; Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L- lysine. 9606.ENSP00000373647,FAM83G,823,Protein FAM83G; May regulate the bone morphogenetic proteins (BMP) pathway. 9606.ENSP00000373648,KCNQ3,872,"Potassium voltage-gated channel subfamily KQT member 3; Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability." 9606.ENSP00000373657,NCBP3,620,"Nuclear cap-binding protein subunit 3; Associates with NCBP1/CBP80 to form an alternative cap- binding complex (CBC) which plays a key role in mRNA export. NCBP3 serves as adapter protein linking the capped RNAs (m7GpppG-capped RNA) to NCBP1/CBP80. Unlike the conventional CBC with NCBP2 which binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus, the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role in only mRNA export. The alternative CBC is particularly important in cellular stress [...] " 9606.ENSP00000373669,BORCS6,357,"BLOC-1-related complex subunit 6; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Belongs to the BORCS6 family." 9606.ENSP00000373674,NT5M,228,"5'(3')-deoxyribonucleotidase, mitochondrial; Dephosphorylates specifically the 5' and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP." 9606.ENSP00000373684,STK38L,464,Serine/threonine-protein kinase 38-like; Involved in the regulation of structural processes in differentiating and mature neuronal cells; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. 9606.ENSP00000373691,DUOX2,1548,Dual oxidase 2; Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. 9606.ENSP00000373696,TRIP12,2040,"E3 ubiquitin-protein ligase TRIP12; E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardless of the presence of lysine residues in target proteins. Acts as a key regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spr [...] " 9606.ENSP00000373700,ALK,1620,"ALK tyrosine kinase receptor; Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system. Transduces signals from ligands at the cell surface, through specific activation of the mitogen- activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as o [...] " 9606.ENSP00000373702,PP2D1,630,Protein phosphatase 2C like domain containing 1. 9606.ENSP00000373706,DIAPH1,1272,"Protein diaphanous homolog 1; Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules [...] " 9606.ENSP00000373715,DCP2,420,"m7GpppN-mRNA hydrolase; Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs. Removes the 7- methyl guanine cap structure from mRNA molecules, yielding a 5'- phosphorylated mRNA fragment and 7m-GDP. Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense- mediated mRNA decay. Plays a role in replication- dependent histone mRNA degradation. Has higher activity towards mRNAs that lack a poly(A) tail. Has no activity towards a cap structure lacking an RNA moiety. The presence of a N(6)-methyladenosine methylation at the second tran [...] " 9606.ENSP00000373726,SHISAL2B,160,Protein shisa-like-2B; Shisa like 2B. 9606.ENSP00000373752,RNF180,592,E3 ubiquitin-protein ligase RNF180; E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2. 9606.ENSP00000373772,RNF20,975,"E3 ubiquitin-protein ligase BRE1A; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role inb histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradi [...] " 9606.ENSP00000373783,LOXL2,774,"Lysyl oxidase homolog 2; Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation. Shows no activity against histone H3 when it is trimethylated on 'Lys-9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2). Also mediates deamination of methylated TAF10, a member of [...] " 9606.ENSP00000373808,FAM169A,670,Soluble lamin-associated protein of 75 kDa; Family with sequence similarity 169 member A; Belongs to the FAM169 family. 9606.ENSP00000373827,CCDC150,1101,Coiled-coil domain containing 150. 9606.ENSP00000373828,CCDC154,674,Coiled-coil domain containing 154. 9606.ENSP00000373854,ITGAD,1161,"Integrin alpha-D; Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood-borne pathogens, particulate matter, and senescent erythrocytes from the blood." 9606.ENSP00000373860,ASPDH,283,Putative L-aspartate dehydrogenase; Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate. 9606.ENSP00000373905,DNM2,870,"Dynamin-2; Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis. Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity)." 9606.ENSP00000373918,GARS1,739,"Glycine--tRNA ligase; Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis. Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000373937,PRTG,1150,Protogenin; May play a role in anteroposterior axis elongation. Belongs to the immunoglobulin superfamily. DCC family. 9606.ENSP00000373948,CFAP69,941,"Cilia- and flagella-associated protein 69; Cilium- and flagellum-associated protein. In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability." 9606.ENSP00000373952,FANCA,1455,Fanconi anemia group A protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. 9606.ENSP00000373964,SMTNL2,461,Smoothelin-like protein 2; Smoothelin like 2. 9606.ENSP00000373979,TRAPPC9,1246,Trafficking protein particle complex subunit 9; Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi. 9606.ENSP00000374013,PRB2,416,Basic salivary proline-rich protein 2; Proline rich protein BstNI subfamily 2. 9606.ENSP00000374014,TM6SF2,377,Transmembrane 6 superfamily member 2; Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. May function as sterol isomerase. Belongs to the TM6SF family. 9606.ENSP00000374036,RPH3A,694,"Rabphilin-3A; Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP- dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Plays also a role in the exocytosis of arginine vasopressin hormone (By similarity)." 9606.ENSP00000374037,VPS9D1,631,VPS9 domain containing 1. 9606.ENSP00000374045,DNAH6,4158,"Dynein heavy chain 6, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity); Belongs to the dynein heavy chain family." 9606.ENSP00000374049,VWA3A,1184,Von Willebrand factor A domain containing 3A. 9606.ENSP00000374069,PTPRN2,1015,"Receptor-type tyrosine-protein phosphatase N2; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones [...] " 9606.ENSP00000374071,ADAMTS20,1910,"A disintegrin and metalloproteinase with thrombospondin motifs 20; May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease- independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain." 9606.ENSP00000374113,PTMS,104,Parathymosin. 9606.ENSP00000374125,SIGLEC15,328,Sialic acid-binding Ig-like lectin 15; Binds sialylated glycoproteins. 9606.ENSP00000374135,LRP1B,4599,Low-density lipoprotein receptor-related protein 1B; Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis. 9606.ENSP00000374152,SMYD5,418,SET and MYND domain-containing protein 5; SMYD family member 5; Belongs to the class V-like SAM-binding methyltransferase superfamily. 9606.ENSP00000374183,CAMSAP1,1602,"Calmodulin-regulated spectrin-associated protein 1; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus-ends and stabilizes microtubules. Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymeriz [...] " 9606.ENSP00000374205,TBR1,682,"T-box brain protein 1; Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection. As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity)." 9606.ENSP00000374212,EP400,3123,"E1A-binding protein p400; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the associ [...] " 9606.ENSP00000374218,ESYT3,886,Extended synaptotagmin-3; Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. 9606.ENSP00000374234,TMEM72,275,Transmembrane protein 72. 9606.ENSP00000374237,NXPE2,559,NXPE family member 2; Neurexophilin and PC-esterase domain family member 2; Belongs to the NXPE family. 9606.ENSP00000374240,SHOX2,355,"Short stature homeobox protein 2; May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation; Belongs to the paired homeobox family. Bicoid subfamily." 9606.ENSP00000374265,GPX2,190,"Glutathione peroxidase 2; Could play a major role in protecting mammals from the toxicity of ingested organic hydroperoxides. Tert-butyl hydroperoxide, cumene hydroperoxide and linoleic acid hydroperoxide but not phosphatidycholine hydroperoxide, can act as acceptors." 9606.ENSP00000374268,GXYLT2,443,Glucoside xylosyltransferase 2; Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. 9606.ENSP00000374273,CRYBG3,2970,Very large A-kinase anchor protein; [Isoform vlAKAP]: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA). 9606.ENSP00000374274,SSC5D,1573,"Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; Binds to extracellular matrix proteins. Binds to pathogen- associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity)." 9606.ENSP00000374280,RTF1,710,"RNA polymerase-associated protein RTF1 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] " 9606.ENSP00000374309,LAMA1,3075,"Laminin subunit alpha-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000374323,EPHA6,1130,"Ephrin type-A receptor 6; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity)." 9606.ENSP00000374328,FAXC,409,Failed axon connections homolog; May play a role in axonal development. 9606.ENSP00000374332,TSN,228,"Translin; DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots; Belongs to the translin family." 9606.ENSP00000374353,HAGHL,282,Hydroxyacylglutathione hydrolase-like protein; Hydrolase acting on ester bonds. 9606.ENSP00000374354,EXOSC8,276,"Exosome complex component RRP43; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] " 9606.ENSP00000374359,ZXDC,858,Zinc finger protein ZXDC; Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes; Belongs to the ZXD family. 9606.ENSP00000374377,RFLNA,135,Refilin-A; Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells. 9606.ENSP00000374387,TRMT44,757,Probable tRNA (uracil-O(2)-)-methyltransferase; Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase; Belongs to the TRM44 family. 9606.ENSP00000374390,GPR149,731,Probable G-protein coupled receptor 149; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000374399,TRMT61A,289,"tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A; Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. Catalytic subunit of mRNA N(1)-methyltransferase complex, which mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries ; Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM61 family." 9606.ENSP00000374409,PKP4,1192,Plakophilin-4; Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques. 9606.ENSP00000374424,ARHGAP8,464,Rho GTPase-activating protein 8; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000374443,LYST,3801,Lysosomal-trafficking regulator; May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. 9606.ENSP00000374447,LRCH1,763,"Leucine-rich repeat and calponin homology domain-containing protein 1; Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration." 9606.ENSP00000374455,SQSTM1,440,"Sequestosome-1; Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus. May regulate the activation of NFKB1 by TNF-alpha, nerve gro [...] " 9606.ENSP00000374482,MRGPRE,312,"Mas-related G-protein coupled receptor member E; Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain; Belongs to the G-protein coupled receptor 1 family. Mas subfamily." 9606.ENSP00000374484,TMEM87A,555,Transmembrane protein 87A; May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN). 9606.ENSP00000374490,DNAH17,4462,"Dynein heavy chain 17, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity)." 9606.ENSP00000374507,CCDC88C,2028,"Protein Daple; Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling. Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling. Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation. Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such [...] " 9606.ENSP00000374529,CCNK,580,Cyclin-K; Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C- terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A). 9606.ENSP00000374552,RNF216,923,"E3 ubiquitin-protein ligase RNF216; Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis." 9606.ENSP00000374562,COX16,106,"Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial; Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6. Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT- CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT- CO2/COX2 a [...] " 9606.ENSP00000374565,FAM168B,195,Myelin-associated neurite-outgrowth inhibitor; Inhibitor of neuronal axonal outgrowth. Acts as a negative regulator of CDC42 and STAT3 and a positive regulator of STMN2. Positive regulator of CDC27. 9606.ENSP00000374566,KIF19,998,Kinesin-like protein KIF19; Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips. 9606.ENSP00000374632,TMEM95,203,Transmembrane protein 95. 9606.ENSP00000374633,IL17REL,336,Putative interleukin-17 receptor E-like; Interleukin 17 receptor E like. 9606.ENSP00000375053,TMEM203,136,Transmembrane protein 203; Involved in the regulation of cellular calcium homeotasis. Required for spermatogenesis. 9606.ENSP00000375063,NLRP5,1200,"NACHT, LRR and PYD domains-containing protein 5; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the NLRP family." 9606.ENSP00000375066,HCAR2,363,Hydroxycarboxylic acid receptor 2; Acts as a high affinity receptor for both nicotinic acid (also known as niacin) and (D)-beta-hydroxybutyrate and mediates increased adiponectin secretion and decreased lipolysis through G(i)- protein-mediated inhibition of adenylyl cyclase. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. Mediates nicotinic acid-induced apoptosis in mature neutrophils. Receptor activation by nicotinic acid results in reduced cAMP levels which may affect activity of cAMP-dependent protein kinase A and [...] 9606.ENSP00000375069,COL23A1,540,Collagen type XXIII alpha 1 chain. 9606.ENSP00000375073,EID2,236,EP300-interacting inhibitor of differentiation 2; Interacts with EP300 and acts as a repressor of MYOD- dependent transcription and muscle differentiation. Inhibits EP300 histone acetyltransferase activity. Acts as a repressor of TGFB/SMAD transcriptional responses. May act as a repressor of the TGFB/SMAD3- dependent signaling by selectively blocking formation of TGFB-induced SMAD3-SMAD4 complex. 9606.ENSP00000375076,KRTAP4-4,166,Keratin associated protein 4-4. 9606.ENSP00000375080,PPP2R3B,575,"Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment." 9606.ENSP00000375081,TSSK1B,367,"Testis-specific serine/threonine-protein kinase 1; Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates 'Ser-288' of TSKS. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body." 9606.ENSP00000375086,CCL25,150,"C-C motif chemokine 25; Potentially involved in T-cell development. Recombinant protein shows chemotactic activity on thymocytes, macrophages, THP-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. Binds to CCR9. Isoform 2 is an antagonist of isoform 1. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4; Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000375091,TAS2R19,299,"Taste receptor type 2 member 19; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000375093,TAS2R31,309,"Taste receptor type 2 member 31; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). Activated by the sulfonyl amide sweeteners saccharin and acesulfame K; Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000375095,TAS2R13,303,"Taste receptor type 2 member 13; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000375107,KRTAP19-6,58,"Keratin-associated protein 19-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 19 family." 9606.ENSP00000375108,KRTAP19-1,90,"Keratin-associated protein 19-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000375109,KRTAP13-3,172,"Keratin-associated protein 13-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity)." 9606.ENSP00000375147,KRTAP16-1,517,Keratin associated protein 16-1; Belongs to the KRTAP type 16 family. 9606.ENSP00000375148,KRTAP29-1,341,Keratin associated like protein 29-1; Belongs to the KRTAP type 10 family. 9606.ENSP00000375149,KRTAP9-7,169,"Keratin-associated protein 9-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 9 family." 9606.ENSP00000375150,KRTAP9-6,160,"Keratin-associated protein 9-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 9 family." 9606.ENSP00000375151,KRTAP4-3,195,"Keratin-associated protein 4-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family." 9606.ENSP00000375220,CTAGE1,745,cTAGE family member 2; Cutaneous T cell lymphoma-associated antigen 1. 9606.ENSP00000375232,KRTAP4-11,195,Keratin associated protein 4-11. 9606.ENSP00000375234,KRTAP4-9,210,Keratin associated protein 4-9. 9606.ENSP00000375236,KRTAP4-7,155,Keratin associated protein 4-7. 9606.ENSP00000375237,KRTAP2-3,128,"Keratin-associated protein 2-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity)." 9606.ENSP00000375238,KRTAP2-1,128,"Keratin-associated protein 2-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 2 family." 9606.ENSP00000375248,BHLHA9,235,"Class A basic helix-loop-helix protein 9; Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis." 9606.ENSP00000375267,RTL8A,113,Retrotransposon Gag like 8A; Belongs to the FAM127 family. 9606.ENSP00000375268,RTL8B,113,Retrotransposon Gag like 8B; Belongs to the FAM127 family. 9606.ENSP00000375428,KRTAP3-3,98,"Keratin-associated protein 3-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 3 family." 9606.ENSP00000375429,KRTAP3-2,98,"Keratin-associated protein 3-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000375430,KRTAP3-1,98,"Keratin-associated protein 3-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000375475,KRTAP12-1,96,Keratin associated protein 12-1. 9606.ENSP00000375476,KRTAP12-4,112,"Keratin-associated protein 12-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family." 9606.ENSP00000375478,KRTAP10-3,221,"Keratin-associated protein 10-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000375479,KRTAP10-2,255,"Keratin-associated protein 10-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family." 9606.ENSP00000375482,KRTAP6-3,110,"Keratin-associated protein 6-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 6 family." 9606.ENSP00000375582,ZNF552,407,Zinc finger protein 552; May be involved in transcriptional regulation. 9606.ENSP00000375593,ZSCAN5A,496,Zinc finger and SCAN domain-containing protein 5A; May be involved in transcriptional regulation. 9606.ENSP00000375608,KIR3DL1,444,Killer cell immunoglobulin-like receptor 3DL1; Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis. 9606.ENSP00000375616,LILRB4,448,"Leukocyte immunoglobulin-like receptor subfamily B member 4; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance, e.g. towards transplants. Interferes with TNFRSF5-signaling and NF-kappa-B up-regulation. Inhibits receptor-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions." 9606.ENSP00000375618,LILRA2,483,"Leukocyte immunoglobulin-like receptor subfamily A member 2; Part of the innate immune responses against microbial infection. Specifically recognizes a set of N-terminally truncated immunoglobulins that are produced via cleavage by proteases from a range of pathogenic bacteria and fungi, including L.pneumophila, M.hyorhinis, S.pneumoniae, S.aureus and C.albicans. Recognizes epitopes that are in part in the variable region of the immunoglobulin light chains, but requires also the constant region for signaling. Binds to a subset of cleaved IgM, IgG3 and IgG4 molecules, but does not bind [...] " 9606.ENSP00000375622,LAIR1,287,"Leukocyte-associated immunoglobulin-like receptor 1; Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T- cells, down-regulating IL2 and IFNG production while induc [...] " 9606.ENSP00000375629,LILRB2,598,"Leukocyte immunoglobulin-like receptor subfamily B member 2; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles. Involved in the down-regulation of the immune response and the development of tolerance. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M) triggering differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance. Competes with CD8A for binding to class I MHC antigens. Inhibits FC [...] " 9606.ENSP00000375632,RPS9,194,Ribosomal protein S9. 9606.ENSP00000375639,TFPT,253,TCF3 fusion partner; Appears to promote apoptosis in a p53/TP53-independent manner. 9606.ENSP00000375647,CACNG7,275,"Voltage-dependent calcium channel gamma-7 subunit; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit. Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2. Belongs to the PMP-22/EMP/MP20 family. CACNG [...] " 9606.ENSP00000375649,MYADM,322,Myeloid associated differentiation marker; Belongs to the MAL family. 9606.ENSP00000375653,NLRP12,1062,"NACHT, LRR and PYD domains-containing protein 12; Plays an essential role as an potent mitigator of inflammation. Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways. Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway. In turn, promotes bacterial tolerance. Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125- [...] " 9606.ENSP00000375656,ZNF816-ZNF321P,233,ZNF816-ZNF321P readthrough. 9606.ENSP00000375678,KLK14,267,"Kallikrein-14; Serine-type endopeptidase with a dual trypsin-like and chymotrypsin-like substrate specificity. May activate/inactivate the proteinase-activated receptors F2R, F2RL1 and F2RL3 and other kallikreins including KLK1, KLK3, KLK5 and KLK11. May function in seminal clot liquefaction through direct cleavage of the semenogelin SEMG1 and SEMG2 and activation of KLK3. May function through desmoglein DSG1 cleavage in epidermal desquamation a process by which the most superficial corneocytes are shed from the skin surface. May be involved in several aspects of tumor progression incl [...] " 9606.ENSP00000375682,KLK8,305,"Kallikrein-8; Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte [...] " 9606.ENSP00000375688,C19orf48,117,Uncharacterized protein C19orf48; Chromosome 19 open reading frame 48. 9606.ENSP00000375711,AKT1S1,276,"Proline-rich AKT1 substrate 1; Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1- TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis [...] " 9606.ENSP00000375717,PTOV1,416,Prostate tumor-overexpressed gene 1 protein; May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation. 9606.ENSP00000375730,RPL13A,203,60S ribosomal protein L13a; Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppre [...] 9606.ENSP00000375733,PGBD5,524,PiggyBac transposable element-derived protein 5; Transposase that mediates sequence-specific genomic rearrangements. Can induce genomic rearrangements that inactivate the HPRT1 gene. 9606.ENSP00000375756,KCNJ14,436,"ATP-sensitive inward rectifier potassium channel 14; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium [...] " 9606.ENSP00000375770,ZNF541,1346,Zinc finger protein 541; Component of some chromatin remodeling multiprotein complex that plays a role during spermatogenesis. 9606.ENSP00000375777,STRN4,760,Striatin-4; Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein; Belongs to the WD repeat striatin family. 9606.ENSP00000375778,LAMB3,1172,"Laminin subunit beta-3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000375783,DACT3,629,Dapper homolog 3; May be involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. 9606.ENSP00000375795,IL24,207,Interleukin-24; Has antiproliferative properties on melanoma cells and may contribute to terminal cell differentiation; Belongs to the IL-10 family. 9606.ENSP00000375809,ERCC2,760,"General transcription and DNA repair factor IIH helicase subunit XPD; ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. I [...] " 9606.ENSP00000375810,KLC3,504,Kinesin light chain 3; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport; Belongs to the kinesin light chain family. 9606.ENSP00000375820,ZNF233,670,Zinc finger protein 233; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000375821,PPP1R12B,1043,Protein phosphatase 1 regulatory subunit 12B; Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus. 9606.ENSP00000375822,ZNF222,491,Zinc finger protein 222; May be involved in transcriptional regulation. 9606.ENSP00000375829,LAD1,517,Ladinin-1; Anchoring filament protein which is a component of the basement membrane zone. 9606.ENSP00000375836,HDLBP,1268,Vigilin; Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol. 9606.ENSP00000375844,CAPN10,672,Calpain-10; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin- stimulated glucose uptake; Belongs to the peptidase C2 family. 9606.ENSP00000375849,OTOS,89,Otospiralin; May be essential for the survival of the neurosensory epithelium of the inner ear. 9606.ENSP00000375855,PDC,246,Phosducin; May participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. Inhibits the transcriptional activation activity of the cone-rod homeobox CRX. Belongs to the phosducin family. 9606.ENSP00000375857,LRRFIP1,808,"Leucine-rich repeat flightless-interacting protein 1; Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding." 9606.ENSP00000375859,TMEM91,172,Transmembrane protein 91; Belongs to the CD225/Dispanin family. 9606.ENSP00000375863,HNRNPUL1,856,"Heterogeneous nuclear ribonucleoprotein U-like protein 1; Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid- responsive promoter in the absence of ligand-stimulation. Plays also a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro." 9606.ENSP00000375873,ATG16L1,624,"Autophagy-related protein 16-1; Plays an essential role in autophagy: interacts with ATG12- ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane. Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production. Negatively regulates NOD1- and NOD2-driven inflammatory cytokine response. Instead, promotes with NOD2 an autophagy-dependent antibacterial pathway. Plays a r [...] " 9606.ENSP00000375881,ALPP,535,"Alkaline phosphatase, placental." 9606.ENSP00000375882,SERTAD3,196,SERTA domain-containing protein 3; Strong transcriptional coactivator. 9606.ENSP00000375892,AKT2,481,"RAC-beta serine/threonine-protein kinase; AKT2 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the [...] " 9606.ENSP00000375899,SP140,867,"Nuclear body protein SP140; Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails." 9606.ENSP00000375904,LGALS16,142,Galectin-16; Binds lactose with high affinity. Strong inducer of T-cell apoptosis. 9606.ENSP00000375909,SPHKAP,1700,A-kinase anchor protein SPHKAP; Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. May act as a converging factor linking cAMP and sphingosine signaling pathways. Plays a regulatory role in the modulation of SPHK1. 9606.ENSP00000375914,RHBDD1,315,"Rhomboid-related protein 4; Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfe [...] " 9606.ENSP00000375921,PAX3,505,"Paired box protein Pax-3; Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 ; Belongs to the paired homeobox family." 9606.ENSP00000375951,TTLL4,1199,"Tubulin polyglutamylase TTLL4; Glutamylase which preferentially modifies beta-tubulin and non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step. Involved in formation of short side- chains. Mediates initiation of polyglutamylation of nucleosome assembly proteins NAP1L1 and NAP1L4. Also acts as a monoglutamylase: generates monoglutamylation of CGAS, leading to impair the nucleotidyltransferase activity of CGAS; Belongs to the tubulin--tyrosine ligase family." 9606.ENSP00000375978,XRCC5,732,X-ray repair cross-complementing protein 5; Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic s [...] 9606.ENSP00000375986,MAP3K4,1608,"Mitogen-activated protein kinase kinase kinase 4; Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6." 9606.ENSP00000376007,PNLDC1,531,"Poly(A)-specific ribonuclease PNLDC1; 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. May act as a regulator of multipotency in embryonic stem cells (By similarity)." 9606.ENSP00000376010,ZNF566,419,Zinc finger protein 566; May be involved in transcriptional regulation. 9606.ENSP00000376013,ZNF565,499,Zinc finger protein 565; May be involved in transcriptional regulation. 9606.ENSP00000376024,SNX9,595,"Sorting nexin-9; Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin- independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Promotes internalization of TNFR. Promotes degradation of EGFR after EGF signaling. Stimulates the GTPase activity of DNM1. Promotes DNM1 oligomerization. Promo [...] " 9606.ENSP00000376035,ZBTB32,487,Zinc finger and BTB domain-containing protein 32; DNA-binding protein that binds to the to a 5'-TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity). 9606.ENSP00000376048,MAG,626,"Myelin-associated glycoprotein; Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid- containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on [...] " 9606.ENSP00000376055,EEF1B2,225,Elongation factor 1-beta; EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP. 9606.ENSP00000376071,FAM117B,589,Protein FAM117B; Family with sequence similarity 117 member B. 9606.ENSP00000376077,SUMO1,101,"Small ubiquitin-related modifier 1; Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post- translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for insta [...] " 9606.ENSP00000376097,URI1,535,"Unconventional prefoldin RPB5 interactor 1; Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein; Belongs to the RNA polymerase II subunit [...] " 9606.ENSP00000376103,C19orf12,152,Protein C19orf12; Chromosome 19 open reading frame 12. 9606.ENSP00000376110,ZNF493,774,Zinc finger protein 493. 9606.ENSP00000376123,SH2D2A,399,SH2 domain-containing protein 2A; Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK- dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation. 9606.ENSP00000376132,MYO1B,1136,"Unconventional myosin-Ib; Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family." 9606.ENSP00000376135,ZNF605,672,Zinc finger protein 605; May be involved in transcriptional regulation. 9606.ENSP00000376139,WDR45B,344,"WD repeat domain phosphoinositide-interacting protein 3; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2. In the cellular response to starvation, may also functi [...] " 9606.ENSP00000376141,MFSD6,791,Major facilitator superfamily domain containing 6; Belongs to the major facilitator superfamily. MFSD6 family. 9606.ENSP00000376142,INPP1,399,Inositol polyphosphate-1-phosphatase. 9606.ENSP00000376154,CCDC57,751,Coiled-coil domain containing 57. 9606.ENSP00000376167,GPS1,527,"COP9 signalosome complex subunit 1; Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kina [...] " 9606.ENSP00000376177,CALCRL,461,Calcitonin gene-related peptide type 1 receptor; Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. 9606.ENSP00000376178,STX2,288,Syntaxin-2; Essential for epithelial morphogenesis. May mediate Ca(2+)- regulation of exocytosis acrosomal reaction in sperm. 9606.ENSP00000376184,BDH1,343,"D-beta-hydroxybutyrate dehydrogenase, mitochondrial; 3-hydroxybutyrate dehydrogenase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family." 9606.ENSP00000376188,CRLF1,422,"Cytokine receptor-like factor 1; In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). May also play a regulatory role in the immune system." 9606.ENSP00000376197,TFRC,760,"Transferrin receptor protein 1, serum form; Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with tra [...] " 9606.ENSP00000376204,ASH1L,2964,Histone-lysine N-methyltransferase ASH1L; Histone methyltransferase specifically trimethylating 'Lys- 36' of histone H3 forming H3K36me3. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity); Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily. 9606.ENSP00000376213,IQCN,1367,IQ motif containing N. 9606.ENSP00000376224,TMEM200A,491,Transmembrane protein 200A; Belongs to the TMEM200 family. 9606.ENSP00000376227,TMEM44,475,Transmembrane protein 44. 9606.ENSP00000376246,MB21D2,491,Protein MB21D2; Mab-21 domain containing 2. 9606.ENSP00000376249,CCDC50,482,Coiled-coil domain containing 50. 9606.ENSP00000376258,RNF34,373,"E3 ubiquitin-protein ligase RNF34; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. May mediate 'Lys-48'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway. Negatively regulates p5 [...] " 9606.ENSP00000376268,SEC14L1,719,"SEC14-like protein 1; May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation. May also regulate the SLC18A3 and SLC5A7 cholinergic transporters." 9606.ENSP00000376269,NCOA7,942,"Nuclear receptor coactivator 7; Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA; Belongs to the OXR1 family." 9606.ENSP00000376272,RFC4,363,Replication factor C subunit 4; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit may be involved in the elongation of the multiprimed DNA template. 9606.ENSP00000376276,SRSF2,221,"Serine/arginine-rich splicing factor 2; Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5 [...] " 9606.ENSP00000376278,LENEP,61,Lens epithelial cell protein LEP503; May play a role in lens epithelial cell differentiation. 9606.ENSP00000376287,CRYGS,178,Gamma-crystallin S; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000376293,OSBPL6,959,"Oxysterol-binding protein-related protein 6; Regulates cellular transport and efflux of cholesterol. Plays a role in phosphatidylinositol-4-phophate (PI4P) turnover at the neuronal membrane (By similarity). Binds via its PH domain PI4P, phosphatidylinositol-4,5-diphosphate, phosphatidylinositol-3,4,5-triphosphate, and phosphatidic acid (By similarity). Weakly binds 25-hydroxycholesterol. Belongs to the OSBP family." 9606.ENSP00000376297,DYNLL1,89,"Dynein light chain 1, cytoplasmic; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures. Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1; Belongs to the dynein light c [...] " 9606.ENSP00000376303,CPT1C,803,"Carnitine O-palmitoyltransferase 1, brain isoform; May play a role in lipid metabolic process. Belongs to the carnitine/choline acetyltransferase family." 9606.ENSP00000376304,TMEM121,319,Transmembrane protein 121; May play a role in MAPK signaling. Belongs to the TMEM121 family. 9606.ENSP00000376306,CIT,2069,Citron Rho-interacting kinase; Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2. 9606.ENSP00000376307,TEDC1,426,"Tubulin epsilon and delta complex protein 1; Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability (By similarity). May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metabolite Chivosazole F." 9606.ENSP00000376309,HNRNPA3,378,"Heterogeneous nuclear ribonucleoprotein A3; Plays a role in cytoplasmic trafficking of RNA. Binds to the cis-acting response element, A2RE. May be involved in pre-mRNA splicing." 9606.ENSP00000376317,TAOK3,898,"Serine/threonine-protein kinase TAO3; Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF). Belongs to th [...] " 9606.ENSP00000376322,HOXD13,343,Homeobox protein Hox-D13; Sequence-specific transcription factor that binds gene promoters and activates their transcription. Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity). Belongs to the Abd-B homeobox family. 9606.ENSP00000376330,WIPF1,503,"WAS/WASL-interacting protein family member 1; Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus." 9606.ENSP00000376333,LLGL2,1020,"LLGL scribble cell polarity complex component 2; Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par- 6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity. Belongs to the WD repeat L(2)GL family." 9606.ENSP00000376335,GPR155,870,Integral membrane protein GPR155; G protein-coupled receptor 155. 9606.ENSP00000376337,BTBD6,485,BTB/POZ domain-containing protein 6; Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity). 9606.ENSP00000376345,GRB2,217,Growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway; Belongs to the GRB2/sem-5/DRK family. 9606.ENSP00000376349,NUDT14,222,"Uridine diphosphate glucose pyrophosphatase NUDT14; Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP- glucose, CDP-glucose, GDP-glucose and GDP-mannose." 9606.ENSP00000376352,PDK1,456,"[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protect [...] " 9606.ENSP00000376367,WASF1,559,"Wiskott-Aldrich syndrome protein family member 1; Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity)." 9606.ENSP00000376384,ADGRA1,560,Adhesion G protein-coupled receptor A1; Orphan receptor. 9606.ENSP00000376390,RAB37,228,"Ras-related protein Rab-37; RAB37, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000376395,CD300E,205,CMRF35-like molecule 2; Probably acts as an activating receptor. 9606.ENSP00000376397,CD300LB,201,"CMRF35-like molecule 7; Acts as an activating immune receptor through its interaction with ITAM-bearing adapter TYROBP, and also independently by recruitment of GRB2." 9606.ENSP00000376410,INF2,1249,Inverted formin-2; Severs actin filaments and accelerates their polymerization and depolymerization. 9606.ENSP00000376417,ARMC2,867,Armadillo repeat-containing protein 2; Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity). 9606.ENSP00000376419,KLHL23,558,Kelch-like protein 23; Kelch like family member 23. 9606.ENSP00000376421,SDK2,2172,Protein sidekick-2; Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3- ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions. 9606.ENSP00000376423,SPRR2A,72,Small proline rich protein 2A. 9606.ENSP00000376432,KCNJ1,391,"ATP-sensitive inward rectifier potassium channel 1; In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal A [...] " 9606.ENSP00000376436,ETS1,485,"Protein C-ets-1; Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion; Belongs to the ETS family." 9606.ENSP00000376440,RAD9B,429,Cell cycle checkpoint control protein RAD9B; RAD9 checkpoint clamp component B. 9606.ENSP00000376443,ABCA5,1642,ATP-binding cassette sub-family A member 5; May play a role in the processing of autolysosomes. Belongs to the ABC transporter superfamily. ABCA family. 9606.ENSP00000376445,TIRAP,235,"Toll/interleukin-1 receptor domain-containing adapter protein; Adapter involved in TLR2 and TLR4 signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF-alpha and interleukin-6." 9606.ENSP00000376453,CERS6,392,"Ceramide synthase 6; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor. Can use other acyl donors, but with less efficiency (By similarity). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochon [...] " 9606.ENSP00000376456,B3GALT1,326,"Beta-1,3-galactosyltransferase 1; Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N- acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha- GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues." 9606.ENSP00000376457,ECT2,914,"Protein ECT2; Guanine nucleotide exchange factor (GEF) that catalyzes the exchange of GDP for GTP. Promotes guanine nucleotide exchange on the Rho family members of small GTPases, like RHOA, RHOC, RAC1 and CDC42. Required for signal transduction pathways involved in the regulation of cytokinesis. Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Regulates the translocation of RHOA from the central spindle to the equatorial region. Plays a role i [...] " 9606.ENSP00000376458,CDON,1287,Cell adhesion molecule-related/down-regulated by oncogenes; Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity). 9606.ENSP00000376465,GALNT3,633,"Polypeptide N-acetylgalactosaminyltransferase 3; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis." 9606.ENSP00000376472,STT3A,705,"Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation [...] " 9606.ENSP00000376475,PRKAR1A,381,cAMP-dependent protein kinase type I-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. 9606.ENSP00000376500,TRAF3,568,"TNF receptor-associated factor 3; Regulates pathways leading to the activation of NF-kappa-B and MAP kinases, and plays a central role in the regulation of B-cell survival. Part of signaling pathways leading to the production of cytokines and interferon. Required for normal antibody isotype switching from IgM to IgG. Plays a role T-cell dependent immune responses. Plays a role in the regulation of antiviral responses. Is an essential constituent of several E3 ubiquitin-protein ligase complexes. May have E3 ubiquitin-protein ligase activity and promote 'Lys-63'- linked ubiquitination of [...] " 9606.ENSP00000376506,PDCD10,212,"Programmed cell death protein 10; Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity. Important for cell migration, and for normal structure and assembly of the Golgi complex. Important for KDR/VEGFR2 signaling. Increases the stability of KDR/VEGFR2 and prevents its breakdown. Required for normal cardiovascular development. Required for normal angiogenesis, vasculogenesis and hematopoiesis during embryonic development (By similarity). Belongs to the PDCD10 family." 9606.ENSP00000376522,CEP112,955,Centrosomal protein 112. 9606.ENSP00000376523,SCN3B,215,Sodium channel subunit beta-3; Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity). 9606.ENSP00000376534,BAZ2B,2168,Bromodomain adjacent to zinc finger domain protein 2B; May play a role in transcriptional regulation interacting with ISWI; Belongs to the WAL family. 9606.ENSP00000376540,CUZD1,607,CUB and zona pellucida-like domain-containing protein 1; CUZD1 antiserum inhibits cell attachment and proliferation of ovarian cancer cells so may be involved in these processes. May also play a role in the uterus during late pregnancy and/or in trypsin activation in pancreatic acinar cells. 9606.ENSP00000376543,TECTA,2155,"Alpha-tectorin; One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair- cell membrane potential, transducing sound into electrical signals." 9606.ENSP00000376544,CD79B,230,"B-cell antigen receptor complex-associated protein beta chain; Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation." 9606.ENSP00000376553,TMEM119,283,"Transmembrane protein 119; Plays an important role in bone formation and normal bone mineralization. Promotes the differentiation of myoblasts into osteoblasts. May induce the commitment and differentiation of myoblasts into osteoblasts through an enhancement of BMP2 production and interaction with the BMP-RUNX2 pathway. Upregulates the expression of ATF4, a transcription factor which plays a central role in osteoblast differentiation. Essential for normal spermatogenesis and late testicular differentiation (By similarity)." 9606.ENSP00000376565,TMUB1,246,Transmembrane and ubiquitin-like domain-containing protein 1; Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR. Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity). 9606.ENSP00000376568,MLF1,299,Myeloid leukemia factor 1; Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus; Belongs to the MLF family. 9606.ENSP00000376572,RNF208,261,Ring finger protein 208. 9606.ENSP00000376582,RIC8B,560,"Synembryn-B; Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins by exchanging bound GDP for free GTP. Able to potentiate G(olf)-alpha-dependent cAMP accumulation suggesting that it may be an important component for odorant signal transduction; Belongs to the synembryn family." 9606.ENSP00000376603,SMIM8,97,Small integral membrane protein 8. 9606.ENSP00000376608,GTDC1,458,Glycosyltransferase-like domain-containing protein 1; Glycosyltransferase like domain containing 1; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. 9606.ENSP00000376609,GRK5,590,"G protein-coupled receptor kinase 5; Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein-coupled receptors (GPCRs). Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their down-regulation. Phosphorylates a variety of GPCRs, including adrenergic receptors, muscarinic acetylcholine receptors (more specifically Gi-coupled M2/M4 subtypes), dopamine receptors and opioid receptors. In addition to GPCRs, also phosphorylates various substrates: Hsc70-inte [...] " 9606.ENSP00000376611,TDG,410,"G/T mismatch-specific thymine DNA glycosylase; DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thym [...] " 9606.ENSP00000376615,NT5DC3,548,5'-nucleotidase domain containing 3. 9606.ENSP00000376623,CSH2,217,"Chorionic somatomammotropin hormone 2; Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization." 9606.ENSP00000376637,IGF1,158,"Insulin-like growth factor I; The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]- 2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation. Ca(2+)-dependent exo [...] " 9606.ENSP00000376647,MAP3K19,1328,Mitogen-activated protein kinase kinase kinase 19. 9606.ENSP00000376652,EVL,418,Ena/VASP-like protein; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization; Belongs to the Ena/VASP family. 9606.ENSP00000376658,SYCP3,236,"Synaptonemal complex protein 3; Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility. Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity). Belongs to the XLR/SYCP3 family." 9606.ENSP00000376678,TAGLN,201,Transgelin; Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence; Belongs to the calponin family. 9606.ENSP00000376686,LCA5,697,Lebercilin; Involved in intraflagellar protein (IFT) transport in photoreceptor cilia; Belongs to the LCA5 family. 9606.ENSP00000376703,ANO4,955,"Anoctamin-4; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity)." 9606.ENSP00000376708,VWA2,755,Von Willebrand factor A domain containing 2. 9606.ENSP00000376753,GIPC1,333,PDZ domain-containing protein GIPC1; May be involved in G protein-linked signaling; Belongs to the GIPC family. 9606.ENSP00000376765,PIAS3,628,"E3 SUMO-protein ligase PIAS3; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Sumoylates CCAR2 which promotes its interaction with [...] " 9606.ENSP00000376767,NKAPD1,293,Uncharacterized protein NKAPD1; NKAP domain containing 1. 9606.ENSP00000376776,DBH,617,Soluble dopamine beta-hydroxylase; Conversion of dopamine to noradrenaline. 9606.ENSP00000376786,POU2AF1,256,"POU domain class 2-associating factor 1; Transcriptional coactivator that specifically associates with either OCT1 or OCT2. It boosts the OCT1 mediated promoter activity and to a lesser extent, that of OCT2. It has no intrinsic DNA-binding activity. It recognizes the POU domains of OCT1 and OCT2. It is essential for the response of B-cells to antigens and required for the formation of germinal centers; Belongs to the POU2AF1 family." 9606.ENSP00000376792,VTI1A,217,"Vesicle transport through interaction with t-SNAREs homolog 1A; V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular [...] " 9606.ENSP00000376800,MTPN,118,"Myotrophin; Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy. Belongs to the myotrophin family." 9606.ENSP00000376807,DPEP1,411,Dipeptidase 1; Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity. 9606.ENSP00000376808,CUL5,780,"Cullin-5; Core component of multiple SCF-like ECS (Elongin-Cullin 2/5- SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAK2. Seems to be involved in proteosomal degradation of p53/TP53 stimulate [...] " 9606.ENSP00000376822,STEAP3,498,"Metalloreductase STEAP3; Endosomal ferrireductase required for efficient transferrin- dependent iron uptake in erythroid cells. Participates in erythroid iron homeostasis by reducing Fe(3+) to Fe(2+). Can also reduce of Cu(2+) to Cu(1+), suggesting that it participates in copper homeostasis. Uses NADP(+) as acceptor. May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression. Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP." 9606.ENSP00000376823,CYREN,157,"Cell cycle regulator of non-homologous end joining; [Isoform 1]: Cell-cycle-specific inhibitor of classical non- homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases. Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present. Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that [...] " 9606.ENSP00000376824,IFI27L1,104,Interferon alpha-inducible protein 27-like protein 1; Plays a role in the apoptotic process and has a pro-apoptotic activity. 9606.ENSP00000376827,MKS1,559,"Meckel syndrome type 1 protein; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology." 9606.ENSP00000376840,BPGM,259,"Bisphosphoglycerate mutase; Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3- bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity." 9606.ENSP00000376848,PRIMA1,153,Proline-rich membrane anchor 1; Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity). 9606.ENSP00000376849,CASP5,447,"Caspase-5 subunit p10; Mediator of programmed cell death (apoptosis). During non- canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation." 9606.ENSP00000376855,DPP10,800,Inactive dipeptidyl peptidase 10; Promotes cell surface expression of the potassium channel KCND2. Modulates the activity and gating characteristics of the potassium channel KCND2. Has no dipeptidyl aminopeptidase activity. 9606.ENSP00000376865,PDGFD,370,"Platelet-derived growth factor D, receptor-binding form; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity)." 9606.ENSP00000376886,NME2,152,"Nucleoside diphosphate kinase B; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity). Negatively regulates Rho activity by interacting with AKAP13/LBC. Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically. Binds to both single-stranded guanine- and cytosine-rich strands within the nuclease hypersensitive element (NHE) III(1) region of the MYC gene promoter. Does not bind to duplex NHE I [...] " 9606.ENSP00000376889,NME1-NME2,267,Nucleoside diphosphate kinase; NME1-NME2 readthrough. 9606.ENSP00000376893,IL1F10,152,"Interleukin-1 family member 10; Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T- cells in response to heat-killed Candida albicans. Reduces IL36G- induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2. Belongs to the IL-1 family." 9606.ENSP00000376899,PTGFRN,879,"Prostaglandin F2 receptor negative regulator; Inhibits the binding of prostaglandin F2-alpha (PGF2-alpha) to its specific FP receptor, by decreasing the receptor number rather than the affinity constant. Functional coupling with the prostaglandin F2-alpha receptor seems to occur (By similarity). In myoblasts, associates with tetraspanins CD9 and CD81 to prevent myotube fusion during muscle regeneration (By similarity)." 9606.ENSP00000376902,BANP,519,"Protein BANP; Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function. Binds to scaffold/matrix attachment region beta (S/MARbeta), an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Represses cyclin D1 transcription by recruiting HDAC1 to its promoter, thereby diminishing H3K9ac, H3S10ph and H4K8ac levels. Promotes TP53 'Ser-15' phosphorylation and nuclear accumulation, which causes cell cycle arrest (By similarity); Belongs to the BANP/SMAR1 family." 9606.ENSP00000376910,LRRIQ1,1722,Leucine rich repeats and IQ motif containing 1. 9606.ENSP00000376911,LGMN,433,"Legumain; Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system; Belongs to the peptidase C13 family." 9606.ENSP00000376919,LUC7L3,489,Luc7-like protein 3; Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing. 9606.ENSP00000376921,NTNG2,530,"Netrin-G2; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites." 9606.ENSP00000376930,TMCC1,653,Transmembrane and coiled-coil domains protein 1; Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission. Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission. Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane. Belongs to the TEX28 family. 9606.ENSP00000376943,BCL2L11,198,"Bcl-2-like protein 11; Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase- mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis; Belongs to the Bcl-2 family." 9606.ENSP00000376945,FBXW9,458,F-box/WD repeat-containing protein 9; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000376952,EME1,583,"Crossover junction endonuclease EME1; Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks. Belongs to the EME1/MMS4 family." 9606.ENSP00000376955,DENND2C,928,"DENN domain-containing protein 2C; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form." 9606.ENSP00000376992,BCL2L15,163,Bcl-2-like protein 15; BCL2 like 15. 9606.ENSP00000377001,SPOP,374,"Speckle-type POZ protein; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of MACROH2A1 and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING- [...] " 9606.ENSP00000377003,TSPAN8,237,Tetraspanin-8; Tetraspanin 8. 9606.ENSP00000377007,CENPN,353,"Centromere protein N; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes o [...] " 9606.ENSP00000377015,PICALM,652,"Phosphatidylinositol-binding clathrin assembly protein; Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly. Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. In addition to binding to clathrin, mediates the endocyto [...] " 9606.ENSP00000377027,TGFBRAP1,860,"Transforming growth factor-beta receptor-associated protein 1; Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2." 9606.ENSP00000377033,ATP5MC1,136,"ATP synthase F(0) complex subunit C1, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...] " 9606.ENSP00000377036,PTPA,323,"Serine/threonine-protein phosphatase 2A activator; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Acts as a regulatory subunit for serine/threonine- protein phosphatase 2A (PP2A) modulating its activity or substrate specificity, probably by inducing a conformational change in the catalytic subunit, a proposed direct target of the PPIase. Can reactivate inactive phosphatase PP2A-phosphatase methylesterase complexes (PP2A(i)) in presence of ATP and Mg(2+) (By similarity). Reversibly stimulates the var [...] " 9606.ENSP00000377037,RASGEF1C,466,Ras-GEF domain-containing family member 1C; Guanine nucleotide exchange factor (GEF). 9606.ENSP00000377043,TTLL6,891,"Tubulin polyglutamylase TTLL6; Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS, leading to impair the DNA-binding activity of CGAS." 9606.ENSP00000377047,PTPRZ1,2315,"Receptor-type tyrosine-protein phosphatase zeta; Protein tyrosine phosphatase that negatively regulates oligodendrocyte precursor proliferation in the embryonic spinal cord. Required for normal differentiation of the precursor cells into mature, fully myelinating oligodendrocytes. May play a role in protecting oligondendrocytes against apoptosis. May play a role in the establishment of contextual memory, probably via the dephosphorylation of proteins that are part of important signaling cascades (By similarity); Belongs to the protein-tyrosine phosphatase family. Receptor class 5 subfamily." 9606.ENSP00000377055,PRCP,517,"Lysosomal Pro-X carboxypeptidase; Cleaves C-terminal amino acids linked to proline in peptides such as angiotensin II, III and des-Arg9-bradykinin. This cleavage occurs at acidic pH, but enzymatic activity is retained with some substrates at neutral pH." 9606.ENSP00000377059,SNX11,270,Sorting nexin-11; Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes; Belongs to the sorting nexin family. 9606.ENSP00000377060,CBX1,185,"Chromobox protein homolog 1; Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane." 9606.ENSP00000377061,PLXNA1,1896,"Plexin-A1; Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity)." 9606.ENSP00000377075,RGL3,716,Ral guanine nucleotide dissociation stimulator-like 3; Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1 (By similarity). 9606.ENSP00000377086,LONRF2,754,LON peptidase N-terminal domain and ring finger 2. 9606.ENSP00000377112,SLC12A8,714,Solute carrier family 12 member 8; Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation. 9606.ENSP00000377115,LIPT1,373,"Lipoyltransferase 1, mitochondrial; Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes; Belongs to the LplA family." 9606.ENSP00000377123,TSGA10,698,"Testis-specific gene 10 protein; Plays a role in spermatogenesis. When overexpressed, prevents nuclear localization of HIF1A (By similarity). Belongs to the CEP135/TSGA10 family." 9606.ENSP00000377148,AP1G1,825,AP-1 complex subunit gamma-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. 9606.ENSP00000377170,ANKRD39,183,Ankyrin repeat domain 39; Belongs to the ANKRD39 family. 9606.ENSP00000377171,ZNF23,643,Zinc finger protein 23; May be involved in transcriptional regulation. May have a role in embryonic development; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000377176,SPATA7,599,"Spermatogenesis-associated protein 7; Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity)." 9606.ENSP00000377192,G6PD,515,"Glucose-6-phosphate 1-dehydrogenase; Cytosolic glucose-6-phosphate dehydrogenase that catalyzes the first and rate-limiting step of the oxidative branch within the pentose phosphate pathway/shunt, an alternative route to glycolysis for the dissimilation of carbohydrates and a major source of reducing power and metabolic intermediates for fatty acid and nucleic acid biosynthetic processes." 9606.ENSP00000377195,DBN1,695,"Drebrin; Actin cytoskeleton-organizing protein that plays a role in the formation of cell projections. Required for actin polymerization at immunological synapses (IS) and for the recruitment of the chemokine receptor CXCR4 to IS. Plays a role in dendritic spine morphogenesis and organization, including the localization of the dopamine receptor DRD1 to the dendritic spines (By similarity). Involved in memory-related synaptic plasticity in the hippocampus (By similarity)." 9606.ENSP00000377197,HYDIN,5121,Hydrocephalus-inducing protein homolog; Required for ciliary motility. 9606.ENSP00000377218,IRF2,349,Interferon regulatory factor 2; Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) and represses those genes. Also acts as an activator for several genes including H4 and IL7. Constitutively binds to the ISRE promoter to activate IL7. Involved in cell cycle regulation through binding the site II (HiNF-M) promoter region of H4 and activating transcription during cell growth. Antagonizes IRF1 transcriptional activation. 9606.ENSP00000377224,CDKN2D,166,Cyclin-dependent kinase 4 inhibitor D; Interacts strongly with CDK4 and CDK6 and inhibits them. Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. 9606.ENSP00000377225,FAM50A,339,Protein FAM50A; May be a DNA-binding protein or transcriptional factor. 9606.ENSP00000377233,ARAP1,1450,"Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase- activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity)." 9606.ENSP00000377245,KEAP1,624,"Kelch-like ECH-associated protein 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination. KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes. In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine [...] " 9606.ENSP00000377250,MON2,1717,Protein MON2 homolog; May be required for traffic between late Golgi and early endosomes. 9606.ENSP00000377257,ST3GAL2,350,"CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2; Responsible for the synthesis of the sequence NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values; Belongs to the glycosyltransferase 29 family." 9606.ENSP00000377262,SRPK2,699,"SRSF protein kinase 2 C-terminal; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates [...] " 9606.ENSP00000377265,TFAP2B,460,"Transcription factor AP-2-beta; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and f [...] " 9606.ENSP00000377275,GOLGB1,3269,Golgin subfamily B member 1; May participate in forming intercisternal cross-bridges of the Golgi complex. 9606.ENSP00000377280,FBXO8,319,F-box only protein 8; May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential). 9606.ENSP00000377284,FOLR1,257,Folate receptor alpha; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation. 9606.ENSP00000377296,SNCB,134,Beta-synuclein; Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a p53/TP53-dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease; Belongs to the synuclein family. 9606.ENSP00000377298,NUMA1,2115,"Nuclear mitotic apparatus protein 1; Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division. Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles. Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner. In metaphase, part of a ternary complex composed of GPSM2 and G(i) a [...] " 9606.ENSP00000377303,RENBP,427,"N-acylglucosamine 2-epimerase; Catalyzes the interconversion of N-acetylglucosamine to N- acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded." 9606.ENSP00000377311,FDX2,186,"Ferredoxin-2, mitochondrial; Essential for heme A and Fe/S protein biosynthesis." 9606.ENSP00000377344,DDX60,1712,"Probable ATP-dependent RNA helicase DDX60; Positively regulates DDX58/RIG-I- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of DDX58/RIG-I to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV)." 9606.ENSP00000377353,DRD1,446,D(1A) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000377355,PDZD4,775,PDZ domain containing 4. 9606.ENSP00000377357,ZDHHC16,377,"Palmitoyltransferase ZDHHC16; Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6. Required during embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, thereby affecting PLN phosphorylation and homooligomerization (By similarity). Also required for eye development (By similarity). Palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function. May play a role in DNA damage response (By similarity). May be involved in apoptosis regulation (By similarity). Involved [...] " 9606.ENSP00000377369,LRRC74A,488,Leucine-rich repeat-containing protein 74A; Leucine rich repeat containing 74A. 9606.ENSP00000377370,IGSF11,431,Immunoglobulin superfamily member 11; Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth. 9606.ENSP00000377372,GAP43,274,Neuromodulin; This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction. 9606.ENSP00000377374,ERGIC1,290,Endoplasmic reticulum-Golgi intermediate compartment protein 1; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the ERGIC family. 9606.ENSP00000377381,UBTD2,234,Ubiquitin domain containing 2. 9606.ENSP00000377384,PSMC3IP,217,"Homologous-pairing protein 2 homolog; Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double- strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protei [...] " 9606.ENSP00000377385,PPAN-P2RY11,794,PPAN-P2RY11 readthrough; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000377390,PPP6R3,879,Serine/threonine-protein phosphatase 6 regulatory subunit 3; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance; Belongs to the SAPS family. 9606.ENSP00000377396,GASK1B,527,Golgi associated kinase 1B; Belongs to the GASK family. 9606.ENSP00000377401,SLC35B2,432,"Adenosine 3'-phospho 5'-phosphosulfate transporter 1; Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. May indirectly participate in activation of the NF-kappa-B and MAPK pathways." 9606.ENSP00000377411,NDUFA4L2,87,NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2; NDUFA4 mitochondrial complex associated like 2. 9606.ENSP00000377416,SIDT1,832,"SID1 transmembrane family member 1; In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded." 9606.ENSP00000377428,CFAP44,1854,Cilia- and flagella-associated protein 44; Flagellar protein involved in sperm flagellum axoneme organization and function. 9606.ENSP00000377446,SUCLG1,346,"Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits." 9606.ENSP00000377447,MAGEA12,314,"Melanoma-associated antigen 12; Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines." 9606.ENSP00000377456,REG3A,175,Regenerating islet-derived protein 3-alpha 16.5 kDa form; Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Regulates keratinocyte proliferation and differentiation after skin injury via activation of EXTL3-PI3K-AKT signaling pathway. 9606.ENSP00000377470,CNP,421,"2',3'-cyclic-nucleotide 3'-phosphodiesterase; May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin." 9606.ENSP00000377486,MRPL19,292,Mitochondrial ribosomal protein L19. 9606.ENSP00000377490,EVA1A,152,"Protein eva-1 homolog A; Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis." 9606.ENSP00000377492,HMMR,725,"Hyaluronan mediated motility receptor; Receptor for hyaluronic acid (HA) (By similarity). Involved in cell motility (By similarity). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity. May act as a regulator of adipogenisis (By similarity)." 9606.ENSP00000377494,TAGLN3,199,Transgelin-3; Transgelin 3. 9606.ENSP00000377504,ZNF414,390,Zinc finger protein 414; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000377508,JUP,745,Junction plakoglobin; Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E- cadherin/catenin adhes [...] 9606.ENSP00000377520,SYT12,421,"Synaptotagmin-12; Synaptic vesicle phosphoprotein that enhances spontaneous neurotransmitter release but does not effect induced neurotransmitter release (By similarity). Unlike other synaptotagmins, it does not bind Ca(2+) or phospholipids (By similarity). Essential for mossy-fiber long-term potentiation in the hippocampus (By similarity)." 9606.ENSP00000377522,MOSPD3,235,Motile sperm domain containing 3. 9606.ENSP00000377536,PTTG1,202,"Securin; Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity a [...] " 9606.ENSP00000377545,C1QTNF2,330,Complement C1q tumor necrosis factor-related protein 2; Involved in the regulation of lipid metabolism in adipose tissue and liver. 9606.ENSP00000377546,KRT15,456,"Keratin, type I cytoskeletal 15; Keratin 15." 9606.ENSP00000377547,CCNJL,435,Cyclin-J-like protein; Cyclin J like. 9606.ENSP00000377549,FABP6,177,"Gastrotropin; Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity). ECO:0000250|UniProtKB:P51162, ; Belongs to the calycin superfamily. Fatty-acid binding prot [...] " 9606.ENSP00000377558,KRT35,455,"Keratin, type I cuticular Ha5; Keratin 35; Belongs to the intermediate filament family." 9606.ENSP00000377561,LRRC29,223,Leucine-rich repeat-containing protein 29; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. 9606.ENSP00000377570,KRT34,436,"Keratin, type I cuticular Ha4; Keratin 34." 9606.ENSP00000377576,KRTAP9-9,169,Keratin associated protein 9-9. 9606.ENSP00000377577,BBOF1,529,Basal body-orientation factor 1; Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity); Belongs to the BBOF1 family. 9606.ENSP00000377582,KRTAP4-12,201,Keratin associated protein 4-12. 9606.ENSP00000377583,KRTAP2-4,128,Keratin associated protein 2-4. 9606.ENSP00000377601,HELLS,884,"Lymphoid-specific helicase; Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity)." 9606.ENSP00000377616,KRT222,295,Keratin-like protein KRT222; Keratin 222. 9606.ENSP00000377617,MTHFD2,350,"Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial; Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency. Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family." 9606.ENSP00000377633,STAMBP,424,STAM-binding protein; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM- CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR deg [...] 9606.ENSP00000377640,RPL24,157,Ribosomal protein L24; Belongs to the eukaryotic ribosomal protein eL24 family. 9606.ENSP00000377655,SENP7,1050,"Sentrin-specific protease 7; Protease that deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1. Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains. Has very low efficiency in processing full-length SUMO proteins to their mature forms." 9606.ENSP00000377665,GAPVD1,1487,"GTPase-activating protein and VPS9 domain-containing protein 1; Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside th [...] " 9606.ENSP00000377668,SUOX,545,"Sulfite oxidase, mitochondrial; Sulfite oxidase." 9606.ENSP00000377681,G3BP1,466,"Ras GTPase-activating protein-binding protein 1; ATP- and magnesium-dependent helicase that plays an essential role in innate immunity. Participates in the DNA- triggered cGAS/STING pathway by promoting the DNA binding and activation of CGAS. Enhances also DDX58-induced type I interferon production probably by helping DDX58 at sensing pathogenic RNA. In addition, plays an essential role in stress granule formation. Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends. Unwinds DNA/DNA, R [...] " 9606.ENSP00000377690,TTC23,447,Tetratricopeptide repeat protein 23; Participates positively in the ciliary Hedgehog (Hh) signaling. 9606.ENSP00000377696,NIT2,276,"Omega-amidase NIT2; Has a omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting alpha- ketoglutaramate and alpha-ketosuccinamate to biologically useful alpha- ketoglutarate and oxaloacetate, respectively. Overexpression decreases the colony-forming capacity of cultured cells by arresting cells in the G2 phase of the cell cycle." 9606.ENSP00000377699,ADGRG4,3080,Adhesion G-protein coupled receptor G4; Orphan receptor; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily. 9606.ENSP00000377700,TBC1D23,699,"TBC1 domain family member 23; Putative Rab GTPase-activating protein which plays a role in vesicular trafficking. Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles. Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP- 1. Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly [...] " 9606.ENSP00000377703,DGKA,735,"Diacylglycerol kinase alpha; Upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase C activity." 9606.ENSP00000377708,ZSCAN25,544,Zinc finger and SCAN domain-containing protein 25; May be involved in transcriptional regulation. 9606.ENSP00000377721,NR2F2,414,"COUP transcription factor 2; Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A." 9606.ENSP00000377724,ORMDL3,153,ORM1-like protein 3; Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling. Belongs to the ORM family. 9606.ENSP00000377725,ZKSCAN5,839,Zinc finger protein with KRAB and SCAN domains 5; May be involved in transcriptional regulation. 9606.ENSP00000377735,CLDND1,276,Claudin domain containing 1. 9606.ENSP00000377747,CHD2,1828,"Chromodomain-helicase-DNA-binding protein 2; DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity)." 9606.ENSP00000377769,ARL13B,428,"ADP-ribosylation factor-like protein 13B; Cilium-specific protein required to control the microtubule- based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic intern [...] " 9606.ENSP00000377771,SIPA1,1042,"Signal-induced proliferation-associated protein 1; GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state. Affects cell cycle progression (By similarity)." 9606.ENSP00000377779,SV2B,683,Synaptic vesicle glycoprotein 2B; Probably plays a role in the control of regulated secretion in neural and endocrine cells. 9606.ENSP00000377783,PROS1,676,Vitamin K-dependent protein S; Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis. 9606.ENSP00000377789,SYNPO,929,"Synaptopodin; Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes. Seems to be essential for the formation of spine apparatuses in spines of telencephalic neurons, which is involved in synaptic plasticity (By similarity)." 9606.ENSP00000377793,PRC1,620,"Protein regulator of cytokinesis 1; Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression. Belongs to the MAP65/ASE1 [...] " 9606.ENSP00000377796,METTL7B,244,Methyltransferase-like protein 7B; Probable methyltransferase. 9606.ENSP00000377797,USP49,688,Ubiquitin carboxyl-terminal hydrolase 49; Specifically deubiquitinates histone H2B at 'Lys-120' (H2BK120Ub). H2BK120Ub is a specific tag for epigenetic transcriptional activation and acts as a regulator of mRNA splicing. Deubiquitination is required for efficient cotranscriptional splicing of a large set of exons; Belongs to the peptidase C19 family. 9606.ENSP00000377801,RCCD1,376,"RCC1 domain-containing protein 1; Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8. Possibly together with KDM8, is involved in proper mitotic spindle organization and chromosome segregation. Plays a role in regulating alpha-tubulin deacetylation and cytoskeletal microtubule stability, thereby promoting cell migration and TGF-beta-induced epithelial to mesenchymal transition (EMT), potentially through the inhibition of KDM8." 9606.ENSP00000377807,FAM122A,287,Protein FAM122A; Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity. Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA). 9606.ENSP00000377814,HDDC3,179,"Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1; ppGpp hydrolyzing enzyme involved in starvation response." 9606.ENSP00000377823,NDRG4,391,"Protein NDRG4; Contributes to the maintenance of intracerebral BDNF levels within the normal range, which is necessary for the preservation of spatial learning and the resistance to neuronal cell death caused by ischemic stress (By similarity). May enhance growth factor-induced ERK1 and ERK2 phosphorylation, including that induced by PDGF and FGF. May attenuate NGF-promoted ELK1 phosphorylation in a microtubule-dependent manner." 9606.ENSP00000377833,ANXA4,321,Annexin A4; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. 9606.ENSP00000377836,GPC3,603,Glypican-3 alpha subunit; Cell surface proteoglycan that bears heparan sulfate. Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligand [...] 9606.ENSP00000377840,CACNB1,598,Voltage-dependent L-type calcium channel subunit beta-1; Regulatory subunit of L-type calcium channels. Regulates the activity of L-type calcium channels that contain CACNA1A as pore- forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane. Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit. Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit. 9606.ENSP00000377845,ASNS,561,Asparagine synthetase. 9606.ENSP00000377854,LHX6,392,LIM/homeobox protein Lhx6; Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex (By similarity). 9606.ENSP00000377862,FAT4,4981,Protocadherin Fat 4; Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity). 9606.ENSP00000377867,STK26,416,Serine/threonine-protein kinase 26; Mediator of cell growth. Modulates apoptosis. In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation. 9606.ENSP00000377900,LIPF,408,"Lipase F, gastric type." 9606.ENSP00000377914,CIAPIN1,312,"Anamorsin; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1. NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electron [...] " 9606.ENSP00000377934,KIF7,1343,"Kinesin-like protein KIF7; Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU- dependent and -independent mechanisms. Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the tran [...] " 9606.ENSP00000377936,PPP2R2B,509,"Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity)." 9606.ENSP00000377941,ACTN1,914,Alpha-actinin-1; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein; Belongs to the alpha-actinin family. 9606.ENSP00000377944,UTP14A,771,U3 small nucleolar RNA-associated protein 14 homolog A; May be required for ribosome biogenesis. 9606.ENSP00000377948,QRFPR,431,Pyroglutamylated RF-amide peptide receptor; Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels. 9606.ENSP00000377954,LARS1,1176,"Leucine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs." 9606.ENSP00000377958,CCT4,539,"T-complex protein 1 subunit delta; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin (Probable)." 9606.ENSP00000377969,GTF2F1,517,General transcription factor IIF subunit 1; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. Belongs to the TFIIF alpha subunit family. 9606.ENSP00000377971,ANKLE1,669,Ankyrin repeat and LEM domain-containing protein 1; Endonuclease that probably plays a role in the DNA damage response and DNA repair. 9606.ENSP00000377995,MT1X,61,Metallothionein-1X; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. May be involved in FAM168A anti-apoptotic signaling. 9606.ENSP00000378015,KRIT1,736,"Krev interaction trapped protein 1; Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH- dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and v [...] " 9606.ENSP00000378040,BAD,168,"Bcl2-associated agonist of cell death; Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways." 9606.ENSP00000378046,FKBP2,142,Peptidyl-prolyl cis-trans isomerase FKBP2; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. 9606.ENSP00000378050,TRPT1,255,"tRNA 2'-phosphotransferase 1; Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP- ribose 1''-2'' cyclic phosphate; Belongs to the KptA/TPT1 family." 9606.ENSP00000378053,DNASE1L3,305,"Deoxyribonuclease gamma; Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA. Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis. The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses ant [...] " 9606.ENSP00000378056,PDE8A,829,"High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in maintaining basal levels of the cyclic nucleotide and/or in the cAMP regulation of germ cell development. Binding to RAF1 reduces RAF1 'Ser-259' inhibitory- phosphorylation and stimulates RAF1-dependent EGF-activated ERK- signaling. Protects against cell death induced by hydrogen peroxide and staurosporine." 9606.ENSP00000378058,EFEMP1,493,"EGF-containing fibulin-like extracellular matrix protein 1; Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth; Belongs to the fibulin family." 9606.ENSP00000378063,SLFN12,578,Schlafen family member 12; Belongs to the Schlafen family. Subgroup II subfamily. 9606.ENSP00000378067,SLFN11,901,"Schlafen family member 11; Inhibitor of DNA replication that promotes cell death in response to DNA damage. Acts as a guardian of the genome by killing cells with defective replication. Persistently blocks stressed replication forks by opening chromatin across replication initiation sites at stressed replication forks, possibly leading to unwind DNA ahead of the MCM helicase and block fork progression, ultimately leading to cell death. Acts independently of ATR. Also acts as an interferon (IFN)-induced antiviral protein which acts as an inhibitor of retrovirus protein synthesis. Specif [...] " 9606.ENSP00000378072,PNPLA1,532,Patatin-like phospholipase domain-containing protein 1; Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. 9606.ENSP00000378074,SLC28A1,649,"Sodium/nucleoside cotransporter 1; Sodium-dependent and pyrimidine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). Transports uridine, cytidine, thymidine, and nucleoside-derived drugs. Transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS) [...] " 9606.ENSP00000378077,PCDHGA2,932,Protocadherin gamma-A2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000378089,NMB,154,Neuromedin-B-32; Stimulates smooth muscle contraction in a manner similar to that of bombesin; Belongs to the bombesin/neuromedin-B/ranatensin family. 9606.ENSP00000378105,ELOVL6,265,"Elongation of very long chain fatty acids protein 6; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degre [...] " 9606.ENSP00000378118,CCL8,99,"C-C motif chemokine 8; Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8." 9606.ENSP00000378119,STEAP2,490,Metalloreductase STEAP2; Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity); Belongs to the STEAP family. 9606.ENSP00000378131,CFI,591,Complement factor I heavy chain; Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha- chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins. Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces. The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired [...] 9606.ENSP00000378132,IRX5,483,Iroquois-class homeodomain protein IRX-5; Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads [...] 9606.ENSP00000378145,MCUB,336,"Calcium uniporter regulatory subunit MCUb, mitochondrial; Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways." 9606.ENSP00000378163,RPL34,117,60S ribosomal protein L34; Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL34 family. 9606.ENSP00000378165,ZNF207,494,"BUB3-interacting and GLEBS motif-containing protein ZNF207; Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly. ZNF207/BuGZ is mainly composed of disordered low- complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks. Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kineto [...] " 9606.ENSP00000378167,CCDC66,948,"Coiled-coil domain-containing protein 66; Microtubule-binding protein required for ciliogenesis. May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites. Plays a role in retina morphogenesis and/or homeostasis (By similarity)." 9606.ENSP00000378176,SGMS2,365,"Phosphatidylcholine:ceramide cholinephosphotransferase 2; Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signa [...] " 9606.ENSP00000378177,CEMIP,1361,"Cell migration-inducing and hyaluronan-binding protein; Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial-mesenchymal transition (EMT), and hence tum [...] " 9606.ENSP00000378181,BRD7,652,"Bromodomain-containing protein 7; Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signaling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of GSK3B at 'Tyr-216'. Down-regulates TRIM24-mediated activation of transcriptional activation by AR (By similarity). Transcriptional corepressor that down-regulates the expression of target genes. Binds to target promoters, leading to increased histone H3 acetylation at 'Lys-9' (H3K9ac). Binds to the ESR1 promoter [...] " 9606.ENSP00000378191,AIMP1,336,Aminoacyl tRNA synthase complex-interacting multifunctional protein 1; Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7- mediated degradation (By similarity). Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels (By similarity). Promotes dermal fibroblast proliferation and wound repair. Regulates KDEL [...] 9606.ENSP00000378193,DMTF1,760,"Cyclin-D-binding Myb-like transcription factor 1; Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53- dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1." 9606.ENSP00000378195,GPR75,540,"Probable G-protein coupled receptor 75; G protein-coupled receptor that is activated by the chemokine CCL5/RANTES. Probably coupled to heterotrimeric Gq proteins, it stimulates inositol trisphosphate production and calcium mobilization upon activation. Together with CCL5/RANTES, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. CCL5/RANTES may also regulate insulin secretion by pancreatic islet cells through activation of this receptor." 9606.ENSP00000378198,TBCK,893,TBC domain-containing protein kinase-like protein; Involved in the modulation of mTOR signaling and expression of mTOR complex components. Involved in the regulation of cell proliferation and growth. Involved in the control of actin-cytoskeleton organization. 9606.ENSP00000378199,HSPA2,639,"Heat shock-related 70 kDa protein 2; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis [...] " 9606.ENSP00000378207,AKAP5,427,"A-kinase anchor protein 5; May anchor the PKA protein to cytoskeletal and/or organelle- associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade." 9606.ENSP00000378230,ABCC11,1382,"ATP-binding cassette sub-family C member 11; Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides. Enhances the cellular extrusion of cAMP and cGMP. Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S- glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta- D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taur [...] " 9606.ENSP00000378235,SFMBT1,866,"Scm-like with four MBT domains protein 1; Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis." 9606.ENSP00000378236,STON1-GTF2A1L,1182,Stonin-1; May be involved in the endocytic machinery. 9606.ENSP00000378248,CXXC4,367,"CXXC-type zinc finger protein 4; Acts as a negative regulator of the Wnt signaling pathway via its interaction with DVL1 (By similarity). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl- CpG." 9606.ENSP00000378260,ALG13,1137,Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13; [Isoform 1]: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities; Belongs to the glycosyltransferase 28 family. 9606.ENSP00000378265,SLC9B2,537,"Sodium/hydrogen exchanger 9B2; Na(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane. Contributes to the regulation of intracellular pH, sodium homeostasis, and cell volume. Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta-cells (By similarity). Involved in sperm motility and fertility (By similarity). It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity)." 9606.ENSP00000378275,PAIP2,127,Polyadenylate-binding protein-interacting protein 2; Acts as a repressor in the regulation of translation initiation of poly(A)-containing mRNAs. Its inhibitory activity on translation is mediated via its action on PABPC1. Displaces the interaction of PABPC1 with poly(A) RNA and competes with PAIP1 for binding to PABPC1. Its association with PABPC1 results in disruption of the cytoplasmic poly(A) RNP structure organization. 9606.ENSP00000378284,MATR3,847,Matrin 3. 9606.ENSP00000378288,MYLK3,819,Myosin light chain kinase 3; Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. 9606.ENSP00000378289,SYNPO2L,977,Synaptopodin 2-like protein; Actin-associated protein that may play a role in modulating actin-based shape. 9606.ENSP00000378292,KRT80,452,"Keratin, type II cytoskeletal 80; Keratin 80." 9606.ENSP00000378295,INCENP,918,"Inner centromere protein; Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Acts as a scaffold regulating CPC localization and activity. The C-terminus associates with AURKB or AURKC, the N-terminus associated with BIRC5/survivin and CDCA8/borealin tethers the CPC to the inner centromere, and the microtubule binding activity within th [...] " 9606.ENSP00000378306,PPP3CB,525,"Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32 ; Belongs to the PPP phosphatase family. PP-2B subfamily." 9606.ENSP00000378310,SLC39A8,460,Zinc transporter ZIP8; Acts as a manganese and zinc influx transporter. Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain ; Belongs to the ZIP transporter (TC 2.A.5) family. 9606.ENSP00000378312,EFCAB5,1503,EF-hand calcium-binding domain-containing protein 5; EF-hand calcium binding domain 5. 9606.ENSP00000378313,RAB3IL1,382,"Guanine nucleotide exchange factor for Rab-3A; Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B. Belongs to the SEC2 family." 9606.ENSP00000378320,TTC7A,882,"Tetratricopeptide repeat protein 7A; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity)." 9606.ENSP00000378323,PPP3CA,521,"Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Many of the substrates contain a PxIxIT motif and/or a LxVP motif. In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation. In response to increased Ca(2+) levels following mitochondrial depolarization, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion. Dephosphorylat [...] " 9606.ENSP00000378324,DNAJA4,426,DnaJ heat shock protein family member A4. 9606.ENSP00000378326,ZP3,424,"Processed zona pellucida sperm-binding protein 3; Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation." 9606.ENSP00000378328,ANKRD13B,626,Ankyrin repeat domain-containing protein 13B; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. 9606.ENSP00000378332,TGFB1I1,461,"Transforming growth factor beta-1-induced transcript 1 protein; Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to the plasma membrane hence regulating their activity. In the nucleus, functions as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor transcriptional activity. [...] " 9606.ENSP00000378338,GIT1,770,"ARF GTPase-activating protein GIT1; GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine-phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve ENTR1 and PTP [...] " 9606.ENSP00000378340,COL4A6,1707,"Collagen alpha-6(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen." 9606.ENSP00000378350,CDC23,597,"Cell division cycle protein 23 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC8/CDC23 family." 9606.ENSP00000378356,KIF20A,890,"Kinesin-like protein KIF20A; Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end- directed motility." 9606.ENSP00000378359,ADH6,375,Alcohol dehydrogenase 6. 9606.ENSP00000378360,TKFC,575,"ATP-dependent dihydroxyacetone kinase; Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1- mediated cellular antiviral response. Belongs to the dihydroxyacetone kinase (DAK) family." 9606.ENSP00000378364,SLC11A2,590,"Natural resistance-associated macrophage protein 2; Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria. Belongs to the NRAMP family." 9606.ENSP00000378365,CCL26,94,C-C motif chemokine 26; Chemoattractant for eosinophils and basophils. Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils. 9606.ENSP00000378367,NRG4,115,"Pro-neuregulin-4, membrane-bound isoform; Low affinity ligand for the ERBB4 tyrosine kinase receptor. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. Does not bind to the ERBB1, ERBB2 and ERBB3 receptors (By similarity)." 9606.ENSP00000378368,FLOT2,428,"Flotillin-2; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. May be involved in epidermal cell adhesion and epidermal structure and function; Belongs to the band 7/mec-2 family. Flotillin subfamily." 9606.ENSP00000378394,PSAP,524,"Saposin-B-Val; Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin- C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate. Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12). Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of [...] " 9606.ENSP00000378399,WDR89,387,WD repeat domain 89. 9606.ENSP00000378400,LIMA1,760,"LIM domain and actin-binding protein 1; Actin-binding protein involved in actin cytoskeleton regulation and dynamics. Increases the number and size of actin stress fibers and inhibits membrane ruffling. Inhibits actin filament depolymerization. Bundles actin filaments, delays filament nucleation and reduces formation of branched filaments. Plays a role in cholesterol homeostasis. Influences plasma cholesterol levels through regulation of intestinal cholesterol absorption. May act as a scaffold protein by regulating NPC1L1 transportation, an essential protein for cholesterol absorption, [...] " 9606.ENSP00000378401,SPOCK1,439,Testican-1; May play a role in cell-cell and cell-matrix interactions. May contribute to various neuronal mechanisms in the central nervous system. 9606.ENSP00000378402,SIN3A,1273,"Paired amphipathic helix protein Sin3a; Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates wi [...] " 9606.ENSP00000378405,BCKDK,412,"[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex." 9606.ENSP00000378408,GPT,496,Alanine aminotransferase 1; Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity). Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily. 9606.ENSP00000378409,VSIR,311,"V-type immunoglobulin domain-containing suppressor of T-cell activation; Immunoregulatory receptor which inhibits the T-cell response. May promote differentiation of embryonic stem cells, by inhibiting BMP4 signaling (By similarity). May stimulate MMP14- mediated MMP2 activation." 9606.ENSP00000378414,SMARCD1,515,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). Du [...] " 9606.ENSP00000378416,ALAS1,640,"5-aminolevulinate synthase, nonspecific, mitochondrial; 5'-aminolevulinate synthase 1; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000378418,SP9,484,Transcription factor Sp9; Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity). 9606.ENSP00000378426,VKORC1,163,"Vitamin K epoxide reductase complex subunit 1; Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development." 9606.ENSP00000378427,C5orf24,188,UPF0461 protein C5orf24; Chromosome 5 open reading frame 24; Belongs to the UPF0461 family. 9606.ENSP00000378431,MMRN1,1228,"155 kDa platelet multimerin; Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein." 9606.ENSP00000378464,CPLX3,158,Complexin-3; Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity). [...] 9606.ENSP00000378476,CDKL4,379,Cyclin-dependent kinase-like 4; Cyclin dependent kinase like 4. 9606.ENSP00000378483,RGS19,217,"Regulator of G-protein signaling 19; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G-alpha subfamily 1 members, with the order G(i)a3 > G(i)a1 > G(o)a >> G(z)a/G(i)a2. Activity on G(z)-alpha is inhibited by phosphorylation and palmitoylation of the G-protein." 9606.ENSP00000378485,MATK,508,Megakaryocyte-associated tyrosine-protein kinase; Could play a significant role in the signal transduction of hematopoietic cells. May regulate tyrosine kinase activity of SRC- family members in brain by specifically phosphorylating their C- terminal regulatory tyrosine residue which acts as a negative regulatory site. It may play an inhibitory role in the control of T- cell proliferation. 9606.ENSP00000378487,VDAC1,283,Voltage-dependent anion-selective channel protein 1; Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective. May participate in the formation of the permeability transition p [...] 9606.ENSP00000378488,CYP1A1,512,"Cytochrome P450 1A1; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E [...] " 9606.ENSP00000378492,GRM2,872,"Metabotropic glutamate receptor 2; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. May mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization." 9606.ENSP00000378503,ZBTB9,473,Zinc finger and BTB domain-containing protein 9; May be involved in transcriptional regulation. 9606.ENSP00000378504,NXF3,531,Nuclear RNA export factor 3; May function as a tissue-specific nuclear mRNA export factor. 9606.ENSP00000378505,CLK3,638,Dual specificity protein kinase CLK3; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine- rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre- mRNA in endothelial cells; Belongs to the protein kinase superfamily. CMGC Se [...] 9606.ENSP00000378516,OR10W1,305,Olfactory receptor 10W1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000378517,SPP1,314,Osteopontin; Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. 9606.ENSP00000378529,FZR1,496,"Fizzy-related protein homolog; Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and [...] " 9606.ENSP00000378534,MEPE,556,"Matrix extracellular phosphoglycoprotein; Promotes renal phosphate excretion and inhibits intestinal phosphate absorption. Promotes bone mineralization by osteoblasts and cartilage mineralization by chondrocytes. Regulates the mineralization of the extracellular matrix of the craniofacial complex, such as teeth, bone and cartilage (By similarity). Promotes dental pulp stem cell proliferation and differentiation. Belongs to the PF07175/osteoregulin family." 9606.ENSP00000378536,ZBTB46,589,Zinc finger and BTB domain-containing protein 46; Functions as a transcriptional repressor for PRDM1. 9606.ENSP00000378548,GPR135,494,G-protein coupled receptor 135; Orphan receptor. Has spontaneous activity for beta-arrestin recruitment. Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization. 9606.ENSP00000378557,DAAM1,1078,"Disheveled-associated activator of morphogenesis 1; Binds to disheveled (Dvl) and Rho, and mediates Wnt-induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments. Involved in building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells (By similarity). Together with DAAM2, required for myocardial maturation and sarcomere assembly (By similarity). Belongs to the formin homology family." 9606.ENSP00000378563,PFDN6,129,Prefoldin subunit 6; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family. 9606.ENSP00000378570,SULT1A3,295,Sulfotransferase family 1A member 3. 9606.ENSP00000378577,CLDN3,220,"Claudin-3; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000378578,AFF1,1218,AF4/FMR2 family member 1. 9606.ENSP00000378588,TIMM9,89,Mitochondrial import inner membrane translocase subunit Tim9; Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. Belongs to the small Tim family. 9606.ENSP00000378605,DNAJC30,226,"DnaJ homolog subfamily C member 30, mitochondrial; Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity)." 9606.ENSP00000378611,ARHGAP24,748,"Rho GTPase-activating protein 24; Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamel [...] " 9606.ENSP00000378624,HERC4,1057,"Probable E3 ubiquitin-protein ligase HERC4; Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates." 9606.ENSP00000378635,DRP2,957,Dystrophin-related protein 2; Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system. 9606.ENSP00000378642,ZNF785,405,Zinc finger protein 785; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000378650,TBX6,436,"T-box transcription factor TBX6; T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity)." 9606.ENSP00000378687,POM121,999,Nuclear envelope pore membrane protein POM 121; Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). 9606.ENSP00000378690,CALN1,261,Calcium-binding protein 8; Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity (By similarity). May play a role in the physiology of neurons and is potentially important in memory and learning. 9606.ENSP00000378699,CDK1,297,"Cyclin-dependent kinase 1; Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition, and regulates G1 progress and G1-S transition via association with multiple interphase cyclins. Required in higher cells for entry into S-phase and mitosis. Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, G [...] " 9606.ENSP00000378702,BRD2,836,"Bromodomain-containing protein 2; May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of the CCND1 gene. Plays a role in nucleosome assembly." 9606.ENSP00000378710,FAM135B,1406,Protein FAM135B; Family with sequence similarity 135 member B. 9606.ENSP00000378712,IZUMO4,232,Izumo sperm-egg fusion protein 4; IZUMO family member 4; Belongs to the Izumo family. 9606.ENSP00000378721,SEC31A,1220,"Protein transport protein Sec31A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity)." 9606.ENSP00000378725,KTN1,1357,Kinectin; Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin; Belongs to the kinectin family. 9606.ENSP00000378731,ALDOC,364,"Aldolase, fructose-bisphosphate C." 9606.ENSP00000378733,LBH,105,Protein LBH; Transcriptional activator which may act in mitogen-activated protein kinase signaling pathway; Belongs to the LBH family. 9606.ENSP00000378736,CRCP,148,"DNA-directed RNA polymerase III subunit RPC9; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts induce type [...] " 9606.ENSP00000378743,AK4,223,"Adenylate kinase 4, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity. Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK. Plays a protective role in the cellular response to oxidative stress. Belongs to the adenylate kinase fam [...] " 9606.ENSP00000378757,SLC16A9,509,Monocarboxylate transporter 9; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. 9606.ENSP00000378760,MVP,893,Major vault protein; Required for normal vault structure. Vaults are multi-subunit structures that may act as scaffolds for proteins involved in signal transduction. Vaults may also play a role in nucleo-cytoplasmic transport. Down-regulates IFNG-mediated STAT1 signaling and subsequent activation of JAK. Down-regulates SRC activity and signaling through MAP kinases. 9606.ENSP00000378769,PPP1CB,327,"Serine/threonine-protein phosphatase PP1-beta catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progressi [...] " 9606.ENSP00000378782,QPRT,297,Nicotinate-nucleotide pyrophosphorylase [carboxylating]; Involved in the catabolism of quinolinic acid (QA). 9606.ENSP00000378784,PHF20L1,1017,PHD finger protein 20 like 1. 9606.ENSP00000378786,HLA-DRA,254,"HLA class II histocompatibility antigen, DR alpha chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pre [...] " 9606.ENSP00000378792,ZNF169,603,Zinc finger protein 169; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000378803,PAQR5,330,Membrane progestin receptor gamma; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(i) mediated pathway. May be involved in oocyte maturation. 9606.ENSP00000378812,CHCHD2,151,"Coiled-coil-helix-coiled-coil-helix domain-containing protein 2; Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen)." 9606.ENSP00000378830,QRICH1,776,Glutamine-rich protein 1; Glutamine rich 1. 9606.ENSP00000378845,LAT,269,"Linker for activation of T-cells family member 1; Required for TCR (T-cell antigen receptor)- and pre-TCR- mediated signaling, both in mature T-cells and during their development. Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeleta [...] " 9606.ENSP00000378851,MAPK1IP1L,245,MAPK-interacting and spindle-stabilizing protein-like; Mitogen-activated protein kinase 1 interacting protein 1 like. 9606.ENSP00000378854,PSPH,225,Phosphoserine phosphatase; Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates; Belongs to the HAD-like hydrolase superfamily. SerB family. 9606.ENSP00000378856,LGALS9,355,"Galectin-9; Binds galactosides. Has high affinity for the Forssman pentasaccharide. Ligand for HAVCR2/TIM3. Binding to HAVCR2 induces T-helper type 1 lymphocyte (Th1) death. Also stimulates bactericidal activity in infected macrophages by causing macrophage activation and IL1B secretion which restricts intracellular bacterial growth (By similarity). Ligand for P4HB; the interaction retains P4HB at the cell surface of Th2 T-helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration. Ligand for CD44; [...] " 9606.ENSP00000378857,WDR6,1151,WD repeat-containing protein 6; Enhances the STK11/LKB1-induced cell growth suppression activity. Negative regulator of amino acid starvation-induced autophagy. 9606.ENSP00000378868,A1CF,602,"APOBEC1 complementation factor; Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense- mediated decay." 9606.ENSP00000378877,AGPAT1,283,"1-acyl-sn-glycerol-3-phosphate acyltransferase alpha; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone." 9606.ENSP00000378881,ZNF484,854,Zinc finger protein 484; May be involved in transcriptional regulation. 9606.ENSP00000378887,DHRS7B,325,Dehydrogenase/reductase SDR family member 7B; Putative oxidoreductase; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000378888,EGFL8,293,Epidermal growth factor-like protein 8; EGF like domain multiple 8. 9606.ENSP00000378897,ASAH2,780,"Neutral ceramidase soluble form; Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. Together with sphingomyelinase, participates in the production of sphingosine and sphingosine-1 [...] " 9606.ENSP00000378912,COBL,1271,Protein cordon-bleu; Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles. 9606.ENSP00000378914,ULK2,1036,"Serine/threonine-protein kinase ULK2; Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK, also acts as a negative regulator of AMPK through phosphorylation of the AMPK subunits PRKAA1, PRKAB2 and PRKAG1 [...] " 9606.ENSP00000378917,ATXN2L,1097,Ataxin-2-like protein; Involved in the regulation of stress granule and P-body formation. 9606.ENSP00000378920,SLC26A6,759,"Solute carrier family 26 member 6; Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS- sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Functions in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate- sulfate and chloride- [...] " 9606.ENSP00000378935,PPHLN1,458,"Periphilin-1; Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin. Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex. The HUSH complex is also involved in the silencing of unintegrated retrov [...] " 9606.ENSP00000378957,MFAP4,279,Microfibril-associated glycoprotein 4; Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance. 9606.ENSP00000378958,RABL2B,238,Rab-like protein 2B; Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability. Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia. 9606.ENSP00000378965,SNTB1,538,Beta-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex; Belongs to the syntrophin family. 9606.ENSP00000378972,SULT1A1,295,"Sulfotransferase 1A1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk." 9606.ENSP00000378974,MAPK8,427,"Mitogen-activated protein kinase 8; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress- activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as J [...] " 9606.ENSP00000378992,SULT1A2,295,"Sulfotransferase 1A2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk." 9606.ENSP00000378996,NREP,112,Neuronal regeneration-related protein; May have roles in neural function. Ectopic expression augments motility of gliomas. Promotes also axonal regeneration (By similarity). May also have functions in cellular differentiation (By similarity). Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis (By similarity). Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May play a role in the regulation of alveolar generation. 9606.ENSP00000379003,NUPR1,100,"Nuclear protein 1; Transcription regulator that converts stress signals into a program of gene expression that empowers cells with resistance to the stress induced by a change in their microenvironment. Thereby participates in regulation of many process namely cell-cycle, apoptosis, autophagy and DNA repair responses. Controls cell cycle progression and protects cells from genotoxic stress induced by doxorubicin through the complex formation with TP53 and EP300 that binds CDKN1A promoter leading to transcriptional induction of CDKN1A. Protects pancreatic cancer cells from stress-induce [...] " 9606.ENSP00000379008,SLC5A10,612,"Sodium/glucose cotransporter 5; High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family." 9606.ENSP00000379011,CPT1B,772,"Carnitine O-palmitoyltransferase 1, muscle isoform; Carnitine palmitoyltransferase 1B." 9606.ENSP00000379025,FBXW10,1052,F-box/WD repeat-containing protein 10; Probable substrate-recognition component of a SCF (SKP1-CUL1- F-box protein)-type E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Overexpression is leading to degradation of CBX5 and CBX1. 9606.ENSP00000379030,TRIM16L,348,Tripartite motif-containing protein 16-like protein; Tripartite motif containing 16 like; Belongs to the TRIM/RBCC family. 9606.ENSP00000379032,EXT2,751,"Exostosin-2; Glycosyltransferase required for the biosynthesis of heparan- sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan." 9606.ENSP00000379038,TYMP,487,"Thymidine phosphorylase; May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro." 9606.ENSP00000379042,ERO1A,468,"ERO1-like protein alpha; Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby pla [...] " 9606.ENSP00000379047,CCDC51,411,"Mitochondrial potassium channel; Mitochondrial potassium channel located in the mitochondrial inner membrane. Together with ABCB8/MITOSUR, forms a protein complex localized in the mitochondria that mediates ATP- dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel). May contribute to the homeostatic control of cellular metabolism under stress conditions by regulating the mitochondrial matrix volume." 9606.ENSP00000379051,PURB,312,Transcriptional activator protein Pur-beta; Has capacity to bind repeated elements in single-stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine-rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. May [...] 9606.ENSP00000379057,MIEF2,465,Mitochondrial dynamics protein MID49; Mitochondrial outer membrane protein which regulates mitochondrial organization. It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity. Belongs to the MID49/MID51 family. 9606.ENSP00000379065,TRPS1,1294,"Zinc finger transcription factor Trps1; Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes." 9606.ENSP00000379078,EHMT2,1267,"Histone-lysine N-methyltransferase EHMT2; Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltr [...] " 9606.ENSP00000379087,ADM2,148,"Adrenomedullin-2; [Adrenomedullin-2]: May play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway." 9606.ENSP00000379092,BTC,178,"Probetacellulin; Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells." 9606.ENSP00000379097,AREG,252,"Amphiregulin; Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts; Belongs to the amphiregulin family." 9606.ENSP00000379098,CAMK2B,666,"Calcium/calmodulin-dependent protein kinase type II subunit beta; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeti [...] " 9606.ENSP00000379108,MTHFD2L,347,Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2; Methylenetetrahydrofolate dehydrogenase 2 like. 9606.ENSP00000379110,CXCL1,107,"Growth-regulated alpha protein; Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO-alpha(4-73), GRO- alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity." 9606.ENSP00000379111,IL4R,825,"Soluble interleukin-4 receptor subunit alpha; Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2." 9606.ENSP00000379133,APIP,242,"Methylthioribulose-1-phosphate dehydratase; Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death. Belongs to the aldolase class II family. MtnB subfamily." 9606.ENSP00000379138,AFP,609,"Alpha-fetoprotein; Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties; Belongs to the ALB/AFP/VDB family." 9606.ENSP00000379140,CXCL12,140,"Stromal cell-derived factor 1; Chemoattractant active on T-lymphocytes and monocytes but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. SDF-1-beta(3-72) and SDF-1-alpha(3-67) show a reduced chemotactic activity. Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3-67) and thus to preserve activity on local sites. Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for SDF-1. Bi [...] " 9606.ENSP00000379143,ZNF32,273,Zinc finger protein 32; May be involved in transcriptional regulation. 9606.ENSP00000379144,TNRC6A,1962,"Trinucleotide repeat-containing gene 6A protein; Plays a role in RNA-mediated gene silencing by both micro- RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA- dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes." 9606.ENSP00000379156,MPRIP,1038,Myosin phosphatase Rho-interacting protein; Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F-actin- binding region leads to disassembly of stress fibers in neuronal cells. 9606.ENSP00000379169,ZNF287,761,Zinc finger protein 287; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000379173,TRABD,379,TraB domain-containing protein; TraB domain containing. 9606.ENSP00000379174,POLM,508,DNA-directed DNA/RNA polymerase mu; Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. Belongs to the DNA polymerase type-X family. 9606.ENSP00000379176,CDKL1,358,Cyclin-dependent kinase-like 1; Cyclin dependent kinase like 1; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. 9606.ENSP00000379181,RAE1,368,mRNA export factor; Plays a role in mitotic bipolar spindle formation. Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton; Belongs to the WD repeat rae1 family. 9606.ENSP00000379183,PANX2,677,Pannexin-2; Structural component of the gap junctions and the hemichannels; Belongs to the pannexin family. 9606.ENSP00000379201,VCPKMT,229,Protein-lysine methyltransferase METTL21D; Protein-lysine N-methyltransferase that specifically trimethylates 'Lys-315' of VCP/p97; this modification may decrease VCP ATPase activity; Belongs to the methyltransferase superfamily. METTL21 family. 9606.ENSP00000379204,BMP7,431,Bone morphogenetic protein 7; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis. 9606.ENSP00000379208,ZNF248,579,Zinc finger protein 248; May be involved in transcriptional regulation. 9606.ENSP00000379212,PODN,661,Podocan; Negatively regulates cell proliferation and cell migration. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class V subfamily. 9606.ENSP00000379217,UBFD1,309,Ubiquitin domain-containing protein UBFD1; May play a role as NF-kappa-B regulator. 9606.ENSP00000379218,COA1,146,"Cytochrome c oxidase assembly factor 1 homolog; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV." 9606.ENSP00000379226,TEX11,940,Testis-expressed protein 11; Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers. 9606.ENSP00000379228,HECW1,1606,"E3 ubiquitin-protein ligase HECW1; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS." 9606.ENSP00000379241,LRRC2,371,Leucine-rich repeat-containing protein 2; Leucine rich repeat containing 2. 9606.ENSP00000379242,CDRT1,752,CMT1A duplicated region transcript 1. 9606.ENSP00000379256,NCALD,193,Neurocalcin-delta; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions; Belongs to the recoverin family. 9606.ENSP00000379258,GLI3,1580,"Transcriptional repressor GLI3R; Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in re [...] " 9606.ENSP00000379263,TEKT3,490,Tektin-3; May be a structural component of the sperm flagellum. Required for normal sperm mobility. 9606.ENSP00000379267,ELP4,535,"Elongator complex protein 4; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Belongs to the ELP4 family." 9606.ENSP00000379282,ABHD16A,558,"Phosphatidylserine lipase ABHD16A; Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By similarity). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase. Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z- octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy-Delta(12,14)- prostaglandin J2 (15d-PGJ(2)-G)." 9606.ENSP00000379287,YWHAZ,245,"14-3-3 protein zeta/delta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation. In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity). Belongs to the 14-3-3 family." 9606.ENSP00000379290,BCAS1,584,Breast carcinoma-amplified sequence 1; Required for myelination. 9606.ENSP00000379294,FAM172A,416,"Cotranscriptional regulator FAM172A; Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity; Belongs to the FAM172 family." 9606.ENSP00000379310,CASC1,722,Protein CASC1. 9606.ENSP00000379326,SLC5A12,618,"Sodium-coupled monocarboxylate transporter 2; Acts as an electroneutral and low-affinity sodium (Na(+))- dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, wi [...] " 9606.ENSP00000379330,NFATC2,925,"Nuclear factor of activated T-cells, cytoplasmic 2; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway." 9606.ENSP00000379339,RPS29,67,Ribosomal protein S29. 9606.ENSP00000379350,ITGB1,798,"Integrin beta-1; Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G- E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha- 4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha- 11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha- 4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin [...] " 9606.ENSP00000379353,ST8SIA1,356,"Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase; Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid." 9606.ENSP00000379364,MOB1A,216,"MOB kinase activator 1A; Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellu [...] " 9606.ENSP00000379365,EDA2R,318,"Tumor necrosis factor receptor superfamily member 27; Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6." 9606.ENSP00000379366,MOB1B,221,"MOB kinase activator 1B; Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellu [...] " 9606.ENSP00000379367,LYRM1,122,LYR motif-containing protein 1; May promote cell proliferation and inhibition of apoptosis of preadipocytes; Belongs to the complex I LYR family. 9606.ENSP00000379368,ZNF35,527,Zinc finger protein 35; May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000379369,FOXB1,325,Forkhead box B1. 9606.ENSP00000379372,GTF2A2,109,Transcription initiation factor IIA subunit 2; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity. 9606.ENSP00000379377,GCNT3,438,"Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3; Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I- branching enzyme activity by converting linear into branched poly-N- acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development." 9606.ENSP00000379383,ENAM,1142,Enamelin; Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation. 9606.ENSP00000379387,ZNF445,1031,"Zinc finger protein 445; Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs). Acts together with ZFP57, but seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprint [...] " 9606.ENSP00000379390,HERPUD2,406,Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein; Could be involved in the unfolded protein response (UPR) pathway. 9606.ENSP00000379392,THUMPD1,353,THUMP domain-containing protein 1; Functions as a tRNA-binding adapter to mediate NAT10- dependent tRNA acetylation. 9606.ENSP00000379396,NAV2,2488,"Neuron navigator 2; Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs; Belongs to the Nav/unc-53 family." 9606.ENSP00000379401,ODAM,279,"Odontogenic ameloblast-associated protein; Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface; Belongs to the ODAM family." 9606.ENSP00000379430,NDUFAF6,333,"NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1." 9606.ENSP00000379438,UMOD,673,"Uromodulin, secreted form; [Uromodulin]: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelia." 9606.ENSP00000379441,JMY,988,"Junction-mediating and -regulatory protein; Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin poly [...] " 9606.ENSP00000379457,FAF1,650,FAS-associated factor 1; Ubiquitin-binding protein. Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation. Potentiates but cannot initiate FAS-induced apoptosis (By similarity). 9606.ENSP00000379458,ZNF586,402,Zinc finger protein 586; May be involved in transcriptional regulation. 9606.ENSP00000379464,ZNF134,427,Zinc finger protein 134; May be involved in transcriptional regulation. 9606.ENSP00000379472,CCK,115,"Cholecystokinin-58 desnonopeptide; This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors stimulates gastric acid secretion." 9606.ENSP00000379496,PDE1C,769,"Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a high affinity for both cAMP and cGMP. Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (P [...] " 9606.ENSP00000379500,UEVLD,471,Ubiquitin-conjugating enzyme E2 variant 3; Possible negative regulator of polyubiquitination. In the N-terminal section; belongs to the ubiquitin- conjugating enzyme family. UEV subfamily. 9606.ENSP00000379503,PDP1,562,"[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex; Belongs to the PP2C family." 9606.ENSP00000379506,RPL14,215,60S ribosomal protein L14; Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL14 family. 9606.ENSP00000379512,MGST1,155,Microsomal glutathione S-transferase 1; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity. 9606.ENSP00000379531,TMC5,1006,Transmembrane channel-like protein 5; Probable ion channel. 9606.ENSP00000379563,TSPO,169,"Translocator protein; Can bind protoporphyrin IX and may play a role in the transport of porphyrins and heme (By similarity). Promotes the transport of cholesterol across mitochondrial membranes and may play a role in lipid metabolism , but its precise physiological role is controversial. It is apparently not required for steroid hormone biosynthesis. Was initially identified as peripheral- type benzodiazepine receptor; can also bind isoquinoline carboxamides ; Belongs to the TspO/BZRP family." 9606.ENSP00000379566,CCHCR1,871,Coiled-coil alpha-helical rod protein 1; May be a regulator of keratinocyte proliferation or differentiation. 9606.ENSP00000379571,MRGPRX3,322,"Mas-related G-protein coupled receptor member X3; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity)." 9606.ENSP00000379601,RAB27A,221,"Ras-related protein Rab-27A; Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion. Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse." 9606.ENSP00000379602,VAMP1,118,Vesicle-associated membrane protein 1; Involved in the targeting and/or fusion of transport vesicles to their target membrane; Belongs to the synaptobrevin family. 9606.ENSP00000379612,TAX1BP1,789,Tax1-binding protein 1; Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti- apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade. 9606.ENSP00000379616,MYH11,1979,Myosin-11; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. 9606.ENSP00000379619,WDR72,1102,WD repeat-containing protein 72; Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane. 9606.ENSP00000379621,SNX16,344,Sorting nexin-16; May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm; Belongs to the sorting nexin family. 9606.ENSP00000379643,NDE1,335,Nuclear distribution protein nudE homolog 1; Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neurona [...] 9606.ENSP00000379644,SOX6,808,"Transcription factor SOX-6; Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation." 9606.ENSP00000379651,LILRA6,481,Leukocyte immunoglobulin-like receptor subfamily A member 6; May act as receptor for class I MHC antigens. 9606.ENSP00000379654,MARF1,1742,"Meiosis regulator and mRNA stability factor 1; Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity)." 9606.ENSP00000379658,ETV6,452,Transcription factor ETV6; Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation; Belongs to the ETS family. 9606.ENSP00000379669,MPV17L,196,Mpv17-like protein; Isoform 1 participates in reactive oxygen species metabolism by up- or down-regulation of the genes of antioxidant enzymes. Belongs to the peroxisomal membrane protein PXMP2/4 family. 9606.ENSP00000379678,PGM5,567,Phosphoglucomutase-like protein 5; Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity. 9606.ENSP00000379680,NAGA,411,Alpha-N-acetylgalactosaminidase; Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. 9606.ENSP00000379682,PRH2,166,Salivary acidic proline-rich phosphoprotein 1/2; PRP's act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for dental enamel which is important for the integrity of the teeth. 9606.ENSP00000379683,CYP19A1,503,"Aromatase; A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively. Catalyzes three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid. Alternatively, the third oxidative reaction yields a 19- [...] " 9606.ENSP00000379684,ZNF813,617,Zinc finger protein 813; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000379689,ZNF765,523,Zinc finger protein 765; May be involved in transcriptional regulation. 9606.ENSP00000379691,PDXDC1,788,Pyridoxal-dependent decarboxylase domain-containing protein 1; Pyridoxal dependent decarboxylase domain containing 1; Belongs to the group II decarboxylase family. 9606.ENSP00000379696,PKIA,76,"cAMP-dependent protein kinase inhibitor alpha; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains." 9606.ENSP00000379702,ZNF665,678,Zinc finger protein 665; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000379709,ARHGAP21,1958,Rho GTPase-activating protein 21; Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions. 9606.ENSP00000379721,USP8,1118,Ubiquitin carboxyl-terminal hydrolase 8; Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endoso [...] 9606.ENSP00000379738,CEACAM18,384,CEA cell adhesion molecule 18; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000379739,IPP,584,Actin-binding protein IPP; May play a role in organizing the actin cytoskeleton. 9606.ENSP00000379754,CCDC125,511,Coiled-coil domain-containing protein 125; May be involved in the regulation of cell migration. 9606.ENSP00000379773,ZC3H7A,971,"Zinc finger CCCH domain-containing protein 7A; May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3'- ATA(A/T)-5' motif in the apical loop." 9606.ENSP00000379784,COX7B2,81,"Cytochrome c oxidase subunit 7B2, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembran [...] " 9606.ENSP00000379802,AMPD3,776,AMP deaminase 3; AMP deaminase plays a critical role in energy metabolism; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. 9606.ENSP00000379804,OSBPL10,764,"Oxysterol-binding protein-related protein 10; Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P (Probable). Plays a role in negative regulation of lipid biosynthesis. Negatively regulates APOB secretion from hepatocytes. Binds cholesterol and acidic phospholipids. Also binds 25- hydroxycholesterol. B [...] " 9606.ENSP00000379808,ATF7IP2,682,"Activating transcription factor 7-interacting protein 2; Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable); Belongs to the MCAF family." 9606.ENSP00000379823,COL4A3,1670,"Collagen alpha-3(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen." 9606.ENSP00000379826,TRIM40,258,"Tripartite motif-containing protein 40; May function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway. Promotes neddylation of IKBKG/NEMO, stabilizing NFKBIA, and inhibiting of NF-kappaB nuclear translocation and activity. Belongs to the TRIM/RBCC family." 9606.ENSP00000379836,SLC30A5,765,"Zinc transporter 5; Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP." 9606.ENSP00000379838,CARHSP1,147,Calcium-regulated heat-stable protein 1; Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro). 9606.ENSP00000379839,GNE,753,"Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells; In the C-terminal section; belongs to the ROK (NagC/XylR) family." 9606.ENSP00000379841,GPS2,327,"G protein pathway suppressor 2; Key regulator of inflammation, lipid metabolism and mitochondrion homeostasis that acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, thereby inhibiting 'Lys-63'- linked ubiquitination (By similarity). In the nucleus, can both acts as a corepressor and coactivator of transcription, depending on the context. Acts as a transcription coactivator in adipocytes by promoting the recruitment of PPARG to promoters: acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, leading to stabilization of KDM4A and [...] " 9606.ENSP00000379842,SGK3,496,"Serine/threonine-protein kinase Sgk3; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate [...] " 9606.ENSP00000379845,ABAT,500,"4-aminobutyrate aminotransferase, mitochondrial; Catalyzes the conversion of gamma-aminobutyrate and L-beta- aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000379847,ZNF143,638,Zinc finger protein 143; Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8. 9606.ENSP00000379865,ADHFE1,467,"Hydroxyacid-oxoacid transhydrogenase, mitochondrial; Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities." 9606.ENSP00000379866,COL4A4,1690,"Collagen alpha-4(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen." 9606.ENSP00000379869,ELP5,316,"Elongator complex protein 5; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Involved in cell migration (By similarity). May be involved in TP53-mediated transcriptional regulation." 9606.ENSP00000379873,HLA-A,365,"HLA class I histocompatibility antigen, A alpha chain; Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells. May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usuall [...] " 9606.ENSP00000379880,LRRC3B,259,Leucine-rich repeat-containing protein 3B; Leucine rich repeat containing 3B. 9606.ENSP00000379888,RPS8,208,Ribosomal protein S8; Belongs to the eukaryotic ribosomal protein eS8 family. 9606.ENSP00000379891,AP1S3,154,AP-1 complex subunit sigma-3; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking. 9606.ENSP00000379895,GATM,423,"Glycine amidinotransferase, mitochondrial; Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis; Belongs to the amidinotransferase family." 9606.ENSP00000379898,ARL4A,200,"ADP-ribosylation factor-like protein 4A; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form." 9606.ENSP00000379901,TMEM106B,274,Transmembrane protein 106B; Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching. 9606.ENSP00000379904,THRB,461,"Thyroid hormone receptor beta; Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine." 9606.ENSP00000379911,CENPK,269,"Centromere protein K; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with KNL1 to recruit the NDC80 complex to the outer kinetochore; Belongs to the CENP-K/MCM22 family." 9606.ENSP00000379915,ATN1,1190,Atrophin-1; Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats. 9606.ENSP00000379931,UBE2E2,201,"Ubiquitin-conjugating enzyme E2 E2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein." 9606.ENSP00000379934,ZDHHC4,344,Probable palmitoyltransferase ZDHHC4; Zinc finger DHHC-type palmitoyltransferase 4. 9606.ENSP00000379946,BICRA,1560,"BRD4-interacting chromatin-remodeling complex-associated protein; Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP- dependent manner. May play a role in BRD4-mediated gene transcription." 9606.ENSP00000379964,STK16,305,"Serine/threonine-protein kinase 16; Membrane-associated protein kinase that phosphorylates on serine and threonine residues. In vitro substrates include DRG1, ENO1 and EIF4EBP1. Also autophosphorylates. May be involved in secretory vesicle trafficking or intracellular signaling. May have a role in regulating stromal-epithelial interactions that occur during ductal morphogenesis in the mammary gland. May be involved in TGF-beta signaling. Able to autophosphorylate on Tyr residue; it is however unclear whether it has tyrosine-protein kinase toward other proteins." 9606.ENSP00000379975,ILK,452,"Integrin-linked protein kinase; Receptor-proximal protein kinase regulating integrin-mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B." 9606.ENSP00000379997,GAPT,157,Protein GAPT; Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity). Belongs to the GAPT family. 9606.ENSP00000379999,TIMM17B,222,"Mitochondrial import inner membrane translocase subunit Tim17-B; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane." 9606.ENSP00000380008,LTB4R,352,"Leukotriene B4 receptor 1; Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000380019,ZNF384,577,"Zinc finger protein 384; Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000380023,OR12D3,316,Olfactory receptor 12D3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000380024,ING4,249,"Inhibitor of growth protein 4; Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Through chromatin acetylation it may function in DNA replication. May inhibit tumor progression by modulating the transcriptional output of signaling pathways which regulate cell proliferation. Can suppress brain tumor angiogenesis through transcriptional repression of RELA/NFKB3 target genes when complexed with RELA. May also specifically suppress loss of contact [...] " 9606.ENSP00000380027,DHRS1,313,Dehydrogenase/reductase SDR family member 1; Dehydrogenase/reductase 1; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000380033,DDX17,731,"Probable ATP-dependent RNA helicase DDX17; As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features. For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts. This function requires the RNA helicase activity. Affects NFAT5 and histone macro- H2A.1/MACROH2A1 alternative splicin [...] " 9606.ENSP00000380037,FITM2,262,Fat storage-inducing transmembrane protein 2; Plays an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and cytoskeletal organization; Belongs to the FIT family. 9606.ENSP00000380044,CSNK1E,416,"Casein kinase I isoform epsilon; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1 and DVL2. Central component of the circadian clock. In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. Inhibits cytokine-induced granuloytic differentiation." 9606.ENSP00000380053,LEUTX,168,Leucine twenty homeobox. 9606.ENSP00000380054,EAF1,268,ELL-associated factor 1; Acts as a transcriptional transactivator of ELL and ELL2 elongation activities; Belongs to the EAF family. 9606.ENSP00000380061,ZSCAN32,697,Zinc finger and SCAN domain-containing protein 32; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000380070,GAPDH,335,"Glyceraldehyde-3-phosphate dehydrogenase; Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis. Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations throu [...] " 9606.ENSP00000380071,TIGD7,549,Tigger transposable element derived 7; Belongs to the tigger transposable element derived protein family. 9606.ENSP00000380073,IRF9,393,"Interferon regulatory factor 9; Transcription factor that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state." 9606.ENSP00000380074,SLC38A9,561,"Sodium-coupled neutral amino acid transporter 9; Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acid levels. Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. SLC38A9 mediates transport of a [...] " 9606.ENSP00000380081,SLC29A4,530,"Equilibrative nucleoside transporter 4; Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside anal [...] " 9606.ENSP00000380087,ZNF213,459,Zinc finger protein 213; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000380093,SOX10,466,"Transcription factor SOX-10; Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3." 9606.ENSP00000380109,NFKBID,313,"NF-kappa-B inhibitor delta; Regulates the expression of IL-2, IL-6, and other cytokines through regulation on NF-kappa-B activity. Functions in the regulation of inflammatory responses. Involved in the induction of T helper 17 cells (Th17) differentiation upon recognition of antigen by T cell antigen receptor (TCR). May also regulate TCR-induced negative selection of thymocytes." 9606.ENSP00000380112,RBAK-RBAKDN,113,RBAK-RBAKDN readthrough. 9606.ENSP00000380116,PROSER3,480,Proline and serine rich 3. 9606.ENSP00000380120,RBAK,714,RB-associated KRAB zinc finger protein; May repress E2F-dependent transcription. May promote AR- dependent transcription. 9606.ENSP00000380131,CLDN6,220,Claudin-6; Plays a major role in tight junction-specific obliteration of the intercellular space; Belongs to the claudin family. 9606.ENSP00000380150,CARD11,1154,Caspase recruitment domain-containing protein 11; Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. Also activates the TORC1 signaling pathway. 9606.ENSP00000380153,OR51E2,320,"Olfactory receptor 51E2; Olfactory receptor. Activated by the odorant, beta-ionone, a synthetic terpenoid. The activity of this receptor is propably mediated by G-proteins leading to the elevation of intracellular Ca(2+), cAMP and activation of the protein kinases PKA and MAPK3/MAPK1. Stimulation of OR51E2 by beta-ionone affects melanocyte proliferation, differentiation, and melanogenesis. Activation of OR51E2 by beta-ionone increases proliferation and migration of primary retinal pigment epithelial (RPE) cells. Activated also by the short-chain fatty acids (SCFA) acetate and propionat [...] " 9606.ENSP00000380155,OR51E1,318,Olfactory receptor 51E1; Odorant receptor. 9606.ENSP00000380157,MOCS2,188,"Molybdopterin synthase catalytic subunit; Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group; Belongs to the MoaE family. MOCS2B subfamily." 9606.ENSP00000380159,FLYWCH2,140,FLYWCH family member 2. 9606.ENSP00000380165,ZNF182,639,Zinc finger protein 182; May be involved in transcriptional regulation. 9606.ENSP00000380174,ZSCAN29,852,Zinc finger and SCAN domain-containing protein 29; May be involved in transcriptional regulation. 9606.ENSP00000380178,UBE2G1,170,"Ubiquitin-conjugating enzyme E2 G1, N-terminally processed; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4." 9606.ENSP00000380184,GPAT4,456,Glycerol-3-phosphate acyltransferase 4; Converts glycerol-3-phosphate to 1-acyl-sn-glycerol-3- phosphate (lysophosphatidic acid or LPA) by incorporating an acyl moiety at the sn-1 position of the glycerol backbone. Active against both saturated and unsaturated long-chain fatty acyl- CoAs ; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. 9606.ENSP00000380185,PLEKHG6,790,"Pleckstrin homology domain-containing family G member 6; Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis." 9606.ENSP00000380227,ITGA4,1032,Integrin alpha-4; Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha-4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions wit [...] 9606.ENSP00000380241,NUDT1,179,"7,8-dihydro-8-oxoguanine triphosphatase; Antimutagenic. Plays a redundant role in sanitizing oxidized nucleotide pools, such as 8-oxo-dGTP pools. Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction and death induced by oxidative stress. Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C to T:A transversions. Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8- oxo-GTP and 8-oxo-ATP. Does not play a [...] " 9606.ENSP00000380247,HRH1,487,"Histamine H1 receptor; In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system." 9606.ENSP00000380250,SLC17A3,498,"Sodium-dependent phosphate transport protein 4; [Isoform 2]: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family." 9606.ENSP00000380251,NUDT19,375,"Nucleoside diphosphate-linked moiety X motif 19; Coenzyme A diphosphatase that mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched-chain fatty-acyl-CoA esters. At low substrate concentrations medium and long- chain fatty-acyl-CoA esters are the primary substrates (By similarity)." 9606.ENSP00000380252,NFE2L2,605,"Nuclear factor erythroid 2-related factor 2; Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles. In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex. In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, hetero [...] " 9606.ENSP00000380256,CCNF,786,"Cyclin-F; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of CP110 during G2 phase, thereby acting as an inhibitor of centrosome reduplication. Belongs to the cyclin family. Cyclin AB subfamily." 9606.ENSP00000380271,RAPGEF4,1011,"Rap guanine nucleotide exchange factor 4; Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarity)." 9606.ENSP00000380281,GPER1,375,"G-protein coupled estrogen receptor 1; G-protein coupled estrogen receptor that binds to 17-beta- estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine [...] " 9606.ENSP00000380283,GPR146,333,Probable G-protein coupled receptor 146; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000380286,C7orf50,194,Uncharacterized protein C7orf50; Chromosome 7 open reading frame 50. 9606.ENSP00000380307,JPH4,628,Junctophilin-4; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity). 9606.ENSP00000380308,DYNC1I2,638,"Cytoplasmic dynein 1 intermediate chain 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes. Has a critical [...] " 9606.ENSP00000380310,ZNF676,588,Zinc finger protein 676; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000380315,ZNF208,1280,Zinc finger protein 208; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000380321,TULP3,501,"Tubby-related protein 3; Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT- A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis; Belongs to the TUB family." 9606.ENSP00000380322,EMC6,110,ER membrane protein complex subunit 6; Belongs to the EMC6 family. 9606.ENSP00000380333,ITIH5,942,Inter-alpha-trypsin inhibitor heavy chain H5; May act as a tumor suppressor. 9606.ENSP00000380334,NCF4,348,"Neutrophil cytosol factor 4; Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex." 9606.ENSP00000380336,SMU1,513,"WD40 repeat-containing protein SMU1, N-terminally processed; Involved in pre-mRNA splicing as a component of the spliceosome. Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal accumulation of IK. Required for normal mitotic spindle assembly and normal progress through mitosis (By similarity). Belongs to the WD repeat SMU1 family." 9606.ENSP00000380349,CAPN3,821,Calpain-3; Calcium-regulated non-lysosomal thiol-protease; Belongs to the peptidase C2 family. 9606.ENSP00000380351,ZNF682,498,Zinc finger protein 682; May be involved in transcriptional regulation. 9606.ENSP00000380352,DDHD2,711,"Phospholipase DDHD2; Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3- phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane." 9606.ENSP00000380353,SFMBT2,894,Scm-like with four MBT domains protein 2; Transcriptional repressor of HOXB13 gene. 9606.ENSP00000380365,RGN,299,"Regucalcin; Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)- dependent cellular processes and enzyme activities (By similarity)." 9606.ENSP00000380367,MYH2,1941,Myosin-2; Muscle contraction. Required for cytoskeleton organization (By similarity). 9606.ENSP00000380378,PAFAH1B1,410,Platelet-activating factor acetylhydrolase IB subunit alpha; Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule slidi [...] 9606.ENSP00000380379,WNT5B,359,Protein Wnt-5b; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity); Belongs to the Wnt family. 9606.ENSP00000380401,FOXRED2,684,FAD-dependent oxidoreductase domain-containing protein 2; Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation. 9606.ENSP00000380413,AGAP3,911,"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3; GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway; Belongs to the centaurin gamma-like family." 9606.ENSP00000380421,IL15RA,353,"Soluble interleukin-15 receptor subunit alpha; High-affinity receptor for interleukin-15. Can signal both in cis and trans where IL15R from one subset of cells presents IL15 to neighboring IL2RG-expressing cells (By similarity). In neutrophils, binds and activates kinase SYK in response to IL15 stimulation. In neutrophils, required for IL15- induced phagocytosis in a SYK-dependent manner. Expression of different isoforms may alter or interfere with signal transduction. [Isoform 6]: Does not bind IL15. [Isoform 8]: Does not bind IL15." 9606.ENSP00000380427,ARPC4-TTLL3,625,ARPC4-TTLL3 readthrough. 9606.ENSP00000380432,INS,110,"Insulin A chain; Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver." 9606.ENSP00000380437,SLC22A17,538,"Solute carrier family 22 member 17; Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo- 24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resu [...] " 9606.ENSP00000380440,INS-IGF2,200,"Insulin, isoform 2; INS-IGF2 readthrough." 9606.ENSP00000380442,PLA2G4F,849,Cytosolic phospholipase A2 zeta; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has higher enzyme activity for phosphatidylethanolamine than phosphatidylcholine (By similarity). 9606.ENSP00000380450,NOXO1,376,"NADPH oxidase organizer 1; Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity." 9606.ENSP00000380453,ERMN,297,"Ermin; Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity)." 9606.ENSP00000380460,PLAA,795,"Phospholipase A-2-activating protein; Plays a role in protein ubiquitination, sorting and degradation through its association with VCP. Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor al [...] " 9606.ENSP00000380466,MRPL23,153,Mitochondrial ribosomal protein L23. 9606.ENSP00000380467,JMJD7,316,"Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7; Bifunctional enzyme that acts both as an endopeptidase and 2- oxoglutarate-dependent monoxygenase. Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation. Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4. After initial cleavage, continues to digest histones tails via its aminopeptidase activity. Additionally, may play a role in [...] " 9606.ENSP00000380494,MYCL,394,"Protein L-Myc; MYCL proto-oncogene, bHLH transcription factor." 9606.ENSP00000380495,DDX51,666,ATP-dependent RNA helicase DDX51; ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits; Belongs to the DEAD box helicase family. DDX51/DBP6 subfamily. 9606.ENSP00000380514,HAGH,308,"Hydroxyacylglutathione hydrolase, mitochondrial; Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl- glutathione to form glutathione and D-lactic acid." 9606.ENSP00000380517,CDH24,819,Cadherin-24; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cadherin-24 mediate strong cell-cell adhesion. 9606.ENSP00000380524,CAPSL,208,Calcyphosin-like protein; Calcyphosine like. 9606.ENSP00000380530,DUSP8,625,"Dual specificity protein phosphatase 8; Has phosphatase activity with synthetic phosphatase substrates and negatively regulates mitogen-activated protein kinase activity, presumably by catalysing their dephosphorylation. Expected to display protein phosphatase activity toward phosphotyrosine, phosphoserine and phosphothreonine residues." 9606.ENSP00000380553,TSPAN4,238,Tetraspanin-4; Tetraspanin 4; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000380557,AKAP8L,646,A-kinase anchor protein 8-like; Could play a role in constitutive transport element (CTE)- mediated gene expression by association with DHX9. Increases CTE- dependent nuclear unspliced mRNA export. Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis. May regulate the initiation phase of DNA replication when associate [...] 9606.ENSP00000380559,CRAMP1,1269,Protein cramped-like; Cramped chromatin regulator homolog 1. 9606.ENSP00000380594,BPIFC,507,BPI fold containing family C. 9606.ENSP00000380598,BLOC1S5,187,"Biogenesis of lysosome-related organelles complex 1 subunit 5; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. Belongs to th [...] " 9606.ENSP00000380602,CNTN4,1026,Contactin-4; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis. 9606.ENSP00000380605,LYPD1,141,Ly6/PLAUR domain-containing protein 1; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro increases receptor desensitization and decreases affinity for ACh of alpha-4:beta-2- containing nAChRs. May play a role in the intracellular trafficking of alpha-4:beta-2 and alpha-7-containing nAChRs and may inhibit their expression at the cell surface. May be involved in the control of anxiety. 9606.ENSP00000380635,ARL16,197,ADP-ribosylation factor-like protein 16; ADP ribosylation factor like GTPase 16. 9606.ENSP00000380638,PTK2B,1009,"Protein-tyrosine kinase 2-beta; Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promot [...] " 9606.ENSP00000380646,TMEM80,216,Transmembrane protein 80. 9606.ENSP00000380659,EIF4ENIF1,985,"Eukaryotic translation initiation factor 4E transporter; Nucleoplasmic shuttling protein, which inhibits translation initiation. Mediates the nuclear import of EIF4E by a piggy-back mechanism." 9606.ENSP00000380661,CEP250,2442,Centrosome-associated protein CEP250; May be involved in ciliogenesis. Probably plays an important role in centrosome cohesion during interphase. 9606.ENSP00000380666,SLC7A7,511,"Y+L amino acid transporter 1; Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family." 9606.ENSP00000380671,SMCO1,214,Single-pass membrane protein with coiled-coil domains 1. 9606.ENSP00000380675,WEE2,567,"Wee1-like protein kinase 2; Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1/CDC2 and acts as a key regulator of meiosis during both prophase I and metaphase II. Required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, by phosphorylating CDK1 at 'Tyr-15', leading to inhibit CDK1 activity and prevent meiotic reentry. Also required for metaphase II exit during egg activation by phosphorylating CDK1 at 'Tyr-15', to ensure exit from meiosis in oocytes and promote pronuclear format [...] " 9606.ENSP00000380676,CDHR5,845,"Cadherin-related family member 5; Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation." 9606.ENSP00000380679,CCDC40,1142,"Coiled-coil domain-containing protein 40; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39. Belongs to the CCDC40 family." 9606.ENSP00000380690,BICDL1,573,"BICD family-like cargo adapter 1; Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6- containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis (By similarity). Belongs to the BICDR family." 9606.ENSP00000380692,KDM7A,941,"Lysine-specific demethylase 7A; Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9' and 'Lys-27' (H3K9me2 and H3K27me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4 [...] " 9606.ENSP00000380697,IRF7,516,"Interferon regulatory factor 7; Key transcriptional regulator of type I interferon (IFN)- dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN- stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependen [...] " 9606.ENSP00000380702,MYCBP,103,c-Myc-binding protein; May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC. 9606.ENSP00000380713,RASSF7,373,"Ras association domain-containing protein 7; Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti-apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization." 9606.ENSP00000380718,CDYL,544,"Chromodomain Y-like protein; [Isoform 2]: Chromatin reader protein that recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys-27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape. Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing [...] " 9606.ENSP00000380734,FAM98B,433,Protein FAM98B; Positively stimulates PRMT1-induced protein arginine dimethylated arginine methylation. Promotes colorectal cancer cell malignancy. Belongs to the FAM98 family. 9606.ENSP00000380746,FBXL16,479,F-box/LRR-repeat protein 16; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000380747,TMEM209,561,Transmembrane protein 209. 9606.ENSP00000380759,PRMT2,433,"Protein arginine N-methyltransferase 2; Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4. Acts as a coactivator (with NCOA2) of the androgen receptor (AR)- mediated transactivation. Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation. Enhances PGR, PPARG, RARA-mediated transactivation. May inhibit NF-kappa-B transcription and promote apoptosis. Represses E2F1 transcriptional activity (in a RB1- dependent manner). May be involved in growth regulation." 9606.ENSP00000380762,TEN1,123,"CST complex subunit TEN1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...] " 9606.ENSP00000380763,MORC2,1032,"ATPase MORC2; Essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing. Represses germ cell-related genes and L1 retrotransposons in collaboration with SETDB1 and the HUSH complex, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression. During DNA damage response, re [...] " 9606.ENSP00000380779,TCTN1,592,"Tectonic-1; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to rep [...] " 9606.ENSP00000380781,NFIX,441,Nuclear factor 1 X-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication; Belongs to the CTF/NF-I family. 9606.ENSP00000380785,HOOK2,719,"Protein Hook homolog 2; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones." 9606.ENSP00000380793,ALG3,438,"Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol." 9606.ENSP00000380794,CHMP7,453,"Charged multivesicular body protein 7; ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase. Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Plays a role in the endosomal sorting pathway." 9606.ENSP00000380837,LSS,732,"Lanosterol synthase; Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency." 9606.ENSP00000380840,ZNF709,641,Zinc finger protein 709; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000380855,PDCD1LG2,273,"Programmed cell death 1 ligand 2; Involved in the costimulatory signal, essential for T-cell proliferation and IFNG production in a PDCD1-independent manner. Interaction with PDCD1 inhibits T-cell proliferation by blocking cell cycle progression and cytokine production (By similarity)." 9606.ENSP00000380856,FTCD,572,"Formimidoyltetrahydrofolate cyclodeaminase; Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool; In the N-terminal section; belongs to the formiminotransferase family." 9606.ENSP00000380869,RAB2B,216,Ras-related protein Rab-2B; Required for protein transport from the endoplasmic reticulum to the Golgi complex. 9606.ENSP00000380872,PGBD4,585,piggyBac transposable element derived 4. 9606.ENSP00000380876,RGS11,467,Regulator of G-protein signaling 11; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. 9606.ENSP00000380877,ASCC2,757,"Activating signal cointegrator 1 complex subunit 2; Plays a role in DNA damage repair as component of the ASCC complex. Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have 'Lys-63'-linked polyubiquitin chains. Part of the ASC-1 complex that enhances NF- kappa-B, SRF and AP1 transactivation." 9606.ENSP00000380878,PPP3CC,521,"Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Dephosphorylates and activates transcription factor NFATC1. Dephosphorylates and inactivates transcription factor ELK1. Dephosphorylates DARPP32; Belongs to the PPP phosphatase family. PP-2B subfamily." 9606.ENSP00000380880,SLC66A2,271,Solute carrier family 66 member 2. 9606.ENSP00000380888,MED13,2174,"Mediator of RNA polymerase II transcription subunit 13; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000380901,COL8A2,703,"Collagen alpha-2(VIII) chain; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity)." 9606.ENSP00000380903,ROBO3,1386,Roundabout homolog 3; Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube (By similarity). In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon midline crossing. Belongs to the immunoglobulin superfamily. ROBO family. 9606.ENSP00000380904,POLR3D,398,"DNA-directed RNA polymerase III subunit RPC4; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Ep [...] " 9606.ENSP00000380911,CEP83,701,Centrosomal protein of 83 kDa; Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly. 9606.ENSP00000380920,C19orf38,230,Protein HIDE1; Chromosome 19 open reading frame 38. 9606.ENSP00000380921,SH3KBP1,665,"SH3 domain-containing kinase-binding protein 1; Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3- kinase ac [...] " 9606.ENSP00000380942,ARHGEF12,1544,Rho guanine nucleotide exchange factor 12; May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. 9606.ENSP00000380948,ITGB2,769,"Integrin beta-2; Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL. Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor [...] " 9606.ENSP00000380958,MBP,197,"Myelin basic protein; The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cell [...] " 9606.ENSP00000380959,C17orf67,90,Uncharacterized protein C17orf67; Chromosome 17 open reading frame 67. 9606.ENSP00000380982,PUM3,648,Pumilio homolog 3; Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress. Binds to double-stranded RNA or DNA without sequence specificity. Involved in development of the eye and of primordial germ cells (By similarity). 9606.ENSP00000380996,KIAA1211L,962,Uncharacterized protein KIAA1211-like. 9606.ENSP00000380998,CHMP1A,196,"Charged multivesicular body protein 1a; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the [...] " 9606.ENSP00000380999,ZNF846,533,Zinc finger protein 846; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000381003,TTC28,2481,"Tetratricopeptide repeat protein 28; During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody." 9606.ENSP00000381005,KRTAP12-3,96,"Keratin-associated protein 12-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family." 9606.ENSP00000381007,NAV3,2385,Neuron navigator 3; May regulate IL2 production by T-cells. May be involved in neuron regeneration; Belongs to the Nav/unc-53 family. 9606.ENSP00000381008,MUC16,14507,"Mucin-16; Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces." 9606.ENSP00000381009,KRTAP10-9,292,"Keratin-associated protein 10-9; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000381026,TRPM2,1553,"Transient receptor potential cation channel subfamily M member 2; [Isoform 1]: Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels. Functions as ligand-gated ion channel. Binding of ADP- ribose to the cytoplasmic Nudix domain causes a conformation change; the channel is primed but still requires Ca(2+) binding to trigger channel opening. Extracellular calcium passes through the channel and increases channel activity. Contributes to Ca(2+) release from intracellular stores in response to ADP-ribose. Plays [...] " 9606.ENSP00000381032,NPM2,214,"Nucleoplasmin-2; Core histones chaperone involved in chromatin reprogramming, specially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization. Belongs to the nucleoplasmin family." 9606.ENSP00000381034,SOCS6,535,Suppressor of cytokine signaling 6; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5- SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Regulates KIT degradation by ubiquitination of the tyrosine-phosphorylated receptor. 9606.ENSP00000381036,ADGB,1667,Androglobin. 9606.ENSP00000381047,CFAP410,375,Cilia and flagella associated protein 410. 9606.ENSP00000381057,RNASE1,156,Ribonuclease pancreatic; Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double- stranded RNA; Belongs to the pancreatic ribonuclease family. 9606.ENSP00000381058,CDH7,785,Cadherin-7; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000381064,INTS10,710,"Integrator complex subunit 10; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex." 9606.ENSP00000381070,MAP2K7,435,"Dual specificity mitogen-activated protein kinase kinase 7; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylati [...] " 9606.ENSP00000381086,DIPK2B,433,Divergent protein kinase domain 2B. 9606.ENSP00000381089,SLC35E3,313,Solute carrier family 35 member E3; Putative transporter; Belongs to the TPT transporter family. SLC35E subfamily. 9606.ENSP00000381097,EPHB1,984,"Ephrin type-B receptor 1; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3. During nervous system development, regulates retinal axon guidance redirecting ipsilaterally ventrotempora [...] " 9606.ENSP00000381098,GRIP1,1076,"Glutamate receptor-interacting protein 1; May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons. Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity)." 9606.ENSP00000381101,SERPINB7,380,Serpin B7; Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin. 9606.ENSP00000381102,PIP4P1,284,"Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of phosphatidylinositol-4,5- bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5- monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate. Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes alon [...] " 9606.ENSP00000381104,TM9SF4,642,Transmembrane 9 superfamily member 4; Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface. Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells. Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the [...] 9606.ENSP00000381105,NPS,89,Neuropeptide S; Modulates arousal and anxiety. May play an important anorexigenic role (By similarity). Binds to its receptor NPSR1 with nanomolar affinity to increase intracellular calcium concentrations. 9606.ENSP00000381109,ZCWPW1,648,Zinc finger CW-type and PWWP domain containing 1. 9606.ENSP00000381129,GRK4,578,G protein-coupled receptor kinase 4; Specifically phosphorylates the activated forms of G protein- coupled receptors. GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by calmodulin; the other three isoforms do not phosphorylate rhodopsin and do not interact with calmodulin. GRK4-alpha and GRK4-gamma phosphorylate DRD3. Phosphorylates ADRB2. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. 9606.ENSP00000381133,FGL1,312,"Fibrinogen-like protein 1; Immune suppressive molecule that inhibits antigen-specific T- cell activation by acting as a major ligand of LAG3. Responsible for LAG3 T-cell inhibitory function. Binds LAG3 independently from MHC class II (MHC-II). Secreted by, and promotes growth of, hepatocytes." 9606.ENSP00000381148,CTDSP2,271,"Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2; Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas." 9606.ENSP00000381150,MBLAC1,266,Metallo-beta-lactamase domain containing 1. 9606.ENSP00000381185,BCL2,239,"Apoptosis regulator Bcl-2; Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release." 9606.ENSP00000381204,TMEM123,208,"Porimin; Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability." 9606.ENSP00000381206,RDH16,317,"Retinol dehydrogenase 16; Oxidoreductase with a preference for NAD. Oxidizes all-trans- retinol, 9-cis-retinol, 11-cis-retinol and 13-cis-retinol to the corresponding aldehydes. Has higher activity towards CRBP-bound retinol than with free retinol. Oxidizes also 3-alpha- hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction." 9606.ENSP00000381213,HPS4,708,"Hermansky-Pudlak syndrome 4 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38." 9606.ENSP00000381214,RGPD2,1756,RANBP2 like and GRIP domain containing 2. 9606.ENSP00000381216,KHSRP,711,"Far upstream element-binding protein 2; Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue- specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machiner [...] " 9606.ENSP00000381220,HDDC2,204,HD domain containing 2. 9606.ENSP00000381231,CBS,551,"Cystathionine beta-synthase-like protein; Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L- homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons." 9606.ENSP00000381237,HM13,426,"Minor histocompatibility antigen H13; Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides. May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein. Involved in the intramembrane cleavage of the integral membrane protein PSEN1. Cleav [...] " 9606.ENSP00000381247,EFCAB9,197,"EF-hand calcium-binding domain-containing protein 9; pH-dependent Ca(2+) sensor required to activate the CatSper channel, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Associates with the CatSper complex via direct interaction with CATSPERZ, and senses intracellular Ca(2+). Together with CATSPERZ, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel." 9606.ENSP00000381250,APOF,326,"Apolipoprotein F; Minor apolipoprotein that associates with LDL. Inhibits cholesteryl ester transfer protein (CETP) activity and appears to be an important regulator of cholesterol transport. Also associates to a lesser degree with VLDL, Apo-AI and Apo-AII." 9606.ENSP00000381266,WDR4,412,"tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4; Non-catalytic component of a methyltransferase complex required for the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs). In the methyltransferase complex, it is required to stabilize and induce conformational changes of the catalytic subunit. Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. Also required for the formation of N(7)-methylguanine at internal sites in a subset of mRNAs. Also required for methylation of a specific subset [...] " 9606.ENSP00000381270,TBC1D32,1257,"Protein broad-minded; Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity)." 9606.ENSP00000381272,CD200R1L,271,Cell surface glycoprotein CD200 receptor 2; May be a receptor for the CD200/OX2 cell surface glycoprotein. 9606.ENSP00000381282,SELENOS,189,"Selenoprotein S; Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination." 9606.ENSP00000381293,NSF,744,Vesicle-fusing ATPase; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity); Belongs to the AAA ATPase family. 9606.ENSP00000381298,LONRF1,773,LON peptidase N-terminal domain and ring finger 1. 9606.ENSP00000381302,PLPP4,271,Phospholipid phosphatase 4; Magnesium-independent phospholipid phosphatase with broad substrate specificity. Preferentially catalyzes the conversion of diacylglycerol pyrophosphate into phosphatidate but can also act on phosphatidate and lysophosphatidate. Phospholipid phosphatases are involved in both the synthesis of lipids and the degradation or generation of lipid-signaling molecules like diacylglycerol. 9606.ENSP00000381333,CRHR1,444,"Corticotropin-releasing factor receptor 1; G-protein coupled receptor for CRH (corticotropin-releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to st [...] " 9606.ENSP00000381339,GNAT3,354,"Guanine nucleotide-binding protein G(t) subunit alpha-3; Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP- phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultim [...] " 9606.ENSP00000381340,GGT5,587,"Glutathione hydrolase 5 heavy chain; Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself. Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4)." 9606.ENSP00000381364,CABIN1,2220,Calcineurin-binding protein cabin-1; May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. 9606.ENSP00000381377,ARPIN-AP3S2,394,Protein C15orf38-AP3S2; ARPIN-AP3S2 readthrough. 9606.ENSP00000381382,TCF4,773,Transcription factor 4; Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'- CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'- CCANNTGG-3'. 9606.ENSP00000381386,DDT,118,"D-dopachrome decarboxylase; Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI)." 9606.ENSP00000381429,CGGBP1,167,CGG triplet repeat-binding protein 1; Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter. 9606.ENSP00000381430,MPP3,610,MAGUK p55 subfamily member 3; Membrane palmitoylated protein 3; Belongs to the MAGUK family. 9606.ENSP00000381436,VGLL3,326,Transcription cofactor vestigial-like protein 3; May act as a specific coactivator for the mammalian TEFs. 9606.ENSP00000381448,CST3,146,"Cystatin-C; As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity; Belongs to the cystatin family." 9606.ENSP00000381461,PPME1,400,Protein phosphatase methylesterase 1; Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme. Belongs to the AB hydrolase superfamily. 9606.ENSP00000381473,HIGD1C,97,HIG1 hypoxia inducible domain family member 1C. 9606.ENSP00000381476,TMPRSS12,348,Transmembrane serine protease 12; Belongs to the peptidase S1 family. 9606.ENSP00000381480,SPAG11B,133,Sperm associated antigen 11B. 9606.ENSP00000381486,NOTO,251,"Homeobox protein notochord; Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate. Activates the transcription of ciliary proteins C11orf97 homolog, FAM183B and SPACA9 in the embryonic ventral node (By [...] " 9606.ENSP00000381488,KRTAP9-1,250,"Keratin-associated protein 9-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 9 family." 9606.ENSP00000381489,KRTAP4-1,146,"Keratin-associated protein 4-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family." 9606.ENSP00000381492,LAT2,243,Linker for activation of T-cells family member 2; Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2. 9606.ENSP00000381494,KRTAP2-2,123,"Keratin-associated protein 2-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the KRTAP type 2 family." 9606.ENSP00000381498,FGFRL1,504,Fibroblast growth factor receptor-like 1; Has a negative effect on cell proliferation. 9606.ENSP00000381499,PAX1,534,Paired box protein Pax-1; This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity). 9606.ENSP00000381504,PRPS2,321,Ribose-phosphate pyrophosphokinase 2; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family. 9606.ENSP00000381531,CSNK1D,427,"Casein kinase I isoform delta; Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A, SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3, ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Central component of the circadian clock. In balance with PP1, dete [...] " 9606.ENSP00000381535,STK32A,407,Serine/threonine kinase 32A. 9606.ENSP00000381541,KRTAP5-11,156,"Keratin-associated protein 5-11; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family." 9606.ENSP00000381542,KRTAP5-10,202,"Keratin-associated protein 5-10; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000381549,FRMD4B,1034,FERM domain-containing protein 4B; Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization. 9606.ENSP00000381553,CFAP53,514,Cilia- and flagella-associated protein 53; May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis. 9606.ENSP00000381577,USP34,3546,"Ubiquitin carboxyl-terminal hydrolase 34; Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precurs [...] " 9606.ENSP00000381581,LCP1,627,Plastin-2; Actin-binding protein. Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28. Modulates the cell surface expression of IL2RA/CD25 and CD69. 9606.ENSP00000381588,TMPRSS2,529,"Transmembrane protease serine 2 non-catalytic chain; Serine protease that proteolytically cleaves and activates the viral spike glycoproteins which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Facilitates human SARS coronavirus (SARS-CoV) infection via two independent mechanisms, proteolytic cleavage of ACE2, which might promote viral uptake, and cleavage of coronavirus spike gl [...] " 9606.ENSP00000381589,PCDHGA11,935,Protocadherin gamma-A11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000381594,PCDHGB7,929,Protocadherin gamma-B7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000381601,MX1,662,"Interferon-induced GTP-binding protein Mx1, N-terminally processed; Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing g [...] " 9606.ENSP00000381605,PCDHGA8,932,Protocadherin gamma-A8; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000381607,GSTP1,210,Glutathione S-transferase P; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration. 9606.ENSP00000381611,PCDHGA10,936,Protocadherin gamma-A10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000381613,ZNF596,504,Zinc finger protein 596; May be involved in transcriptional regulation. 9606.ENSP00000381628,PCDHA12,941,Protocadherin alpha-12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000381631,C2orf73,287,Uncharacterized protein C2orf73; Chromosome 2 open reading frame 73. 9606.ENSP00000381636,PCDHA11,949,Protocadherin alpha-11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000381652,EIPR1,414,EARP and GARP complex-interacting protein 1; Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome- associated recycling protein (EARP) complex. 9606.ENSP00000381654,HMGCLL1,370,"3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic; Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3- methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues." 9606.ENSP00000381657,DOT1L,1537,"Histone-lysine N-methyltransferase, H3 lysine-79 specific; Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones. Binds to DNA." 9606.ENSP00000381666,GXYLT1,440,Glucoside xylosyltransferase 1; Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. 9606.ENSP00000381672,TP53TG3,124,TP53 target 3. 9606.ENSP00000381693,ZSWIM8,1842,Zinc finger SWIM-type containing 8. 9606.ENSP00000381698,SHARPIN,387,Sharpin; Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BI [...] 9606.ENSP00000381699,B3GALT5,314,"Beta-1,3-galactosyltransferase 5; Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor; Belongs to the glycosyltransferase 31 family." 9606.ENSP00000381703,DEFB113,82,Beta-defensin 113; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000381717,UBE2D2,147,"Ubiquitin-conjugating enzyme E2 D2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'- linked polyubiquitination. Mediates the selective degradation of short- lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and autoubiquitination of STUB1 and TRAF6. Involved in the signal-induced conjugation and subsequent degradation of NFKBIA, FBXW2-mediated GCM1 ubiquitination and degradation, MDM2-dependent degradation of p53/TP53 and the activation of [...] " 9606.ENSP00000381736,ATP5F1A,553,"ATP synthase subunit alpha, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the [...] " 9606.ENSP00000381740,PARP3,540,"Protein mono-ADP-ribosyltransferase PARP3; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins and plays a key role in the response to DNA damage. Mediates mono-ADP- ribosylation of glutamate, aspartate or lysine residues on target proteins. In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation. Associates with a number of DNA repair factors and is involved in the response to exogenous and endogenous DNA strand breaks. Together with APLF, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation d [...] " 9606.ENSP00000381758,CAPN11,739,Calpain-11; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; Belongs to the peptidase C2 family. 9606.ENSP00000381760,IQCF6,107,IQ motif containing F6. 9606.ENSP00000381773,TOP3B,862,"DNA topoisomerase 3-beta-1; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoil [...] " 9606.ENSP00000381775,TNFSF11,317,"Tumor necrosis factor ligand superfamily member 11, membrane form; Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy. Induces osteoclastogenesis by activating multiple signaling pathways in o [...] " 9606.ENSP00000381782,SLC25A45,288,Solute carrier family 25 member 45; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000381785,HSDL2,418,Hydroxysteroid dehydrogenase-like protein 2; Has apparently no steroid dehydrogenase activity. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000381795,CCDC33,755,Coiled-coil domain containing 33. 9606.ENSP00000381821,YPEL3,157,Protein yippee-like 3; Involved in proliferation and apoptosis in myeloid precursor cells. 9606.ENSP00000381823,SEC24A,1093,"Protein transport protein Sec24A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may [...] " 9606.ENSP00000381840,AEBP2,517,"Zinc finger protein AEBP2; DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates 'Lys-9' and 'Lys-27' residues of histone H3." 9606.ENSP00000381844,ATL3,541,Atlastin-3; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. 9606.ENSP00000381857,MROH6,719,Maestro heat like repeat family member 6. 9606.ENSP00000381859,TOMM6,74,Mitochondrial import receptor subunit TOM6 homolog; Translocase of outer mitochondrial membrane 6. 9606.ENSP00000381876,DAAM2,1068,"Disheveled-associated activator of morphogenesis 2; Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system. Acts downstream of Wnt ligands and upstream of beta- catenin (CTNNB1). Required for canonical Wnt signaling pathway during patterning in the dorsal spinal cord by promoting the aggregation of Disheveled (Dvl) complexes, thereby clustering and formation of Wnt receptor signalosomes and potentiating Wnt activity. During dorsal [...] " 9606.ENSP00000381895,SMCO3,225,Single-pass membrane protein with coiled-coil domains 3. 9606.ENSP00000381911,KCNJ15,375,"ATP-sensitive inward rectifier potassium channel 15; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ15 subfamily." 9606.ENSP00000381928,MGARP,240,Protein MGARP; Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology (By similarity). 9606.ENSP00000381949,COL13A1,717,"Collagen alpha-1(XIII) chain; Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering." 9606.ENSP00000381958,KSR1,762,"Kinase suppressor of Ras 1; Part of a multiprotein signaling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases (By similarity). Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2. Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP (By similarity). Its kinase activity is unsure (By similarity). Some protein [...] " 9606.ENSP00000381968,SPTLC3,552,"Serine palmitoyltransferase 3; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. SPT complexes containing SPTLC3 generate shorter chain sphingoid bases compared to complexes containing SPTLC2. The SPTLC1- SPTLC3-SPTSSA isozyme uses C12-CoA, C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. On the other hand, the SPTLC1- SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference." 9606.ENSP00000381970,GIN1,522,Gypsy retrotransposon integrase 1. 9606.ENSP00000381981,TTC3,2025,"E3 ubiquitin-protein ligase TTC3; E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains. Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Positively regulates TGFB1-induced epithelial- mesenchymal transition and myofibroblast differentiation by [...] " 9606.ENSP00000381984,RPRD1A,312,"Regulation of nuclear pre-mRNA domain-containing protein 1A; Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. May act as a negative regulator of cyclin-D1 (CCND1) and cyclin-E (CCNE1) in the cell cycle." 9606.ENSP00000382000,CDRT15L2,281,CMT1A duplicated region transcript 15 like 2. 9606.ENSP00000382004,CTNND1,968,"Catenin delta-1; Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Belongs to the beta-catenin family." 9606.ENSP00000382015,ZNF24,368,"Zinc finger protein 24; Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence (By similarity). Has transcription repressor activity in vitro; Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000382021,LCMT1,334,Leucine carboxyl methyltransferase 1; Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha- leucine ester residues. 9606.ENSP00000382026,C4orf3,199,Uncharacterized protein C4orf3; Chromosome 4 open reading frame 3. 9606.ENSP00000382030,RAD51AP2,1159,RAD51 associated protein 2. 9606.ENSP00000382071,HLCS,726,"Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase; Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase." 9606.ENSP00000382083,COL25A1,654,Collagen-like Alzheimer amyloid plaque component; Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin. 9606.ENSP00000382086,EVPLL,301,Envoplakin-like protein; Envoplakin like; Belongs to the plakin or cytolinker family. 9606.ENSP00000382090,CLDN14,239,"Claudin-14; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000382091,ALKBH5,394,"RNA demethylase ALKBH5; Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. Can also demethylate N(6)-methyladenosine in single- stranded DNA (in vitro). Requires molecular oxygen, alpha-ketoglutarate and iron. Demethylation of m6A mRNA affects mRNA processing and export. Required for the late meiotic and haploid phases of spermatogenesis by mediating m6A demethylation in spermatocytes and round spermatids: m6A demethylation of targe [...] " 9606.ENSP00000382097,DCDC2C,364,Doublecortin domain containing 2C. 9606.ENSP00000382101,NPIPB2,397,Nuclear pore complex interacting protein family member B2. 9606.ENSP00000382104,DOP1B,2298,Protein dopey-2; May be involved in protein traffic between late Golgi and early endosomes. 9606.ENSP00000382120,AIFM3,605,Apoptosis-inducing factor 3; Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential. 9606.ENSP00000382140,DRC3,523,Dynein regulatory complex subunit 3; Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes; Belongs to the DRC3 family. 9606.ENSP00000382163,SETD4,440,SET domain containing 4; Belongs to the class V-like SAM-binding methyltransferase superfamily. SETD4 family. 9606.ENSP00000382177,MYO5A,1855,Unconventional myosin-Va; Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. 9606.ENSP00000382204,JMJD1C,2540,"Probable JmjC domain-containing histone demethylation protein 2C; Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity)." 9606.ENSP00000382218,ZSWIM7,140,Zinc finger SWIM domain-containing protein 7; Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Belongs to the SWS1 family. 9606.ENSP00000382226,KCNE1,129,Potassium voltage-gated channel subfamily E member 1; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with K [...] 9606.ENSP00000382237,TMEM26,368,Transmembrane protein 26. 9606.ENSP00000382239,RBM12B,1001,RNA binding motif protein 12B. 9606.ENSP00000382241,QSER1,1735,Glutamine and serine rich 1. 9606.ENSP00000382250,MRPS6,125,Mitochondrial ribosomal protein S6. 9606.ENSP00000382269,HECTD1,2610,E3 ubiquitin-protein ligase HECTD1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates 'Lys- 63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure. Belongs to the UPL family. K-HECT subfamily. 9606.ENSP00000382274,NOMO3,1222,Nodal modulator 3; May antagonize Nodal signaling. 9606.ENSP00000382323,OTOG,2925,Otogelin; Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity). 9606.ENSP00000382327,SDR39U1,293,Epimerase family protein SDR39U1; Putative NADP-dependent oxidoreductase; Belongs to the NAD(P)-dependent epimerase/dehydratase family. SDR39U1 subfamily. 9606.ENSP00000382328,N4BP2L2,752,NEDD4 binding protein 2 like 2. 9606.ENSP00000382330,RNF222,220,Ring finger protein 222. 9606.ENSP00000382334,PSG5,335,Pregnancy specific beta-1-glycoprotein 5; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000382341,RABGGTA,567,"Geranylgeranyl transferase type-2 subunit alpha; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A." 9606.ENSP00000382342,ABCC1,1531,"Multidrug resistance-associated protein 1; Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17- beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs by decreasing accumulation of drug in cells, and by mediating ATP- and GSH-dependent drug export. Hydrolyzes ATP with low efficiency. Catalyzes the export of sphingosine 1-phosphate from mast cells independently of their degranulation. Participates in inflammatory re [...] " 9606.ENSP00000382349,ACSM4,580,"Acyl-coenzyme A synthetase ACSM4, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids with a preference for C6-12 fatty acids (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000382356,COL28A1,1125,Collagen alpha-1(XXVIII) chain; May act as a cell-binding protein; Belongs to the VWA-containing collagen family. 9606.ENSP00000382379,ANKRD28,1053,Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation. 9606.ENSP00000382382,USP47,1375,"Ubiquitin carboxyl-terminal hydrolase 47; Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth and genome integrity. May also indirectly regulate CDC25A expression at a transcriptional level." 9606.ENSP00000382390,NEURL4,1562,"Neuralized-like protein 4; Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers." 9606.ENSP00000382423,MAP3K1,1512,"Mitogen-activated protein kinase kinase kinase 1; Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. May phosphorylate the MAPK8/JNK1 kinase. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway." 9606.ENSP00000382434,PLA2G4E,868,Cytosolic phospholipase A2 epsilon; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. 9606.ENSP00000382474,C22orf39,142,UPF0545 protein C22orf39; Chromosome 22 open reading frame 39; Belongs to the UPF0545 family. 9606.ENSP00000382476,MROH2B,1585,Maestro heat-like repeat-containing protein family member 2B; May play a role in the process of sperm capacitation. 9606.ENSP00000382485,OPRPN,248,"Opiorphin prepropeptide; Opiorphin is an endogenous inhibitor of neprilysin and aminopeptidase N. Inhibits the breakdown of substance P, Mca-BK2 and Met-enkephalin by neprilysin in vitro with IC(50) values of 29 uM, 33 uM and 33 uM respectively. Inhibits the breakdown of Ala-pNA by aminopeptidase N in vitro with an IC(50) of 65 uM. Has a potent analgesic effect when administered to rats by intravenous injection. Belongs to the PROL1/PROL3 family." 9606.ENSP00000382492,RADIL,1075,Ras-associating and dilute domain-containing protein; Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. Belongs to the RADIL family. 9606.ENSP00000382507,UBXN2B,331,"UBX domain-containing protein 2B; Adapter protein required for Golgi and endoplasmic reticulum biogenesis. Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis. The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L. VCPIP1 is also required, but not its deubiquitinating activity. Together with NSFL1C/p47, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase. Also, r [...] " 9606.ENSP00000382508,CDIP1,208,Cell death-inducing p53-target protein 1; Acts as an important p53/TP53-apoptotic effector. Regulates TNF-alpha-mediated apoptosis in a p53/TP53-dependent manner. Belongs to the CDIP1/LITAF family. 9606.ENSP00000382511,ZNF195,629,Zinc finger protein 195; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000382518,SRL,473,Sarcalumenin; May be involved in the regulation of calcium transport. 9606.ENSP00000382544,TSSK2,358,"Testis-specific serine/threonine-protein kinase 2; Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at 'Ser-288' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body." 9606.ENSP00000382584,KRTAP5-5,237,"Keratin-associated protein 5-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000382590,KRTAP5-4,228,Keratin associated protein 5-4. 9606.ENSP00000382592,KRTAP5-3,238,Keratin associated protein 5-3. 9606.ENSP00000382595,PAICS,432,Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase; In the C-terminal section; belongs to the AIR carboxylase family. Class II subfamily. 9606.ENSP00000382610,ANKRD18A,992,Ankyrin repeat domain 18A. 9606.ENSP00000382628,RBBP8,897,"DNA endonuclease RBBP8; Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phas [...] " 9606.ENSP00000382646,FAM166B,275,Protein FAM166B; Family with sequence similarity 166 member B; Belongs to the UPF0605 family. 9606.ENSP00000382670,GRXCR1,290,Glutaredoxin domain-containing cysteine-rich protein 1; May play a role in actin filament architecture in developing stereocilia of sensory cells; Belongs to the GRXCR1 family. 9606.ENSP00000382675,ENHO,76,Adropin; Involved in the regulation of glucose homeostasis and lipid metabolism. 9606.ENSP00000382684,MRAP,172,"Melanocortin-2 receptor accessory protein; Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells." 9606.ENSP00000382688,KDM5A,1690,"Lysine-specific demethylase 5A; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif. May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation. May participate in transcriptional repre [...] " 9606.ENSP00000382697,ROCK1,1354,"Rho-associated protein kinase 1; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, TPPP, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress. Acts as [...] " 9606.ENSP00000382707,IFITM3,133,"Interferon-induced transmembrane protein 3; IFN-induced antiviral protein which disrupts intracellular cholesterol homeostasis. Inhibits the entry of viruses to the host cell cytoplasm by preventing viral fusion with cholesterol depleted endosomes. May inactivate new enveloped viruses which buds out of the infected cell, by letting them go out with a cholesterol depleted membrane. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV) and Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus [...] " 9606.ENSP00000382708,C5orf49,147,Uncharacterized protein C5orf49; Chromosome 5 open reading frame 49. 9606.ENSP00000382713,UBE2QL1,161,Ubiquitin-conjugating enzyme E2Q-like protein 1; Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7; Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000382717,WDR19,1342,"WD repeat-containing protein 19; As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs), it is involved in cilia function and/or assembly. Essential for functional IFT-A assembly and ciliary entry of GPCRs. Associates with the BBSome complex to mediate ciliary transport (By similarity)." 9606.ENSP00000382731,ADA2,511,"Adenosine deaminase 2; Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity." 9606.ENSP00000382767,SEL1L3,1132,Protein sel-1 homolog 3; SEL1L family member 3. 9606.ENSP00000382770,KCNU1,1149,"Potassium channel subfamily U member 1; Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina; Belongs to the potassium channel family. Calcium-ac [...] " 9606.ENSP00000382777,KRTAP13-2,175,"Keratin-associated protein 13-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity)." 9606.ENSP00000382779,SEH1L,421,"Nucleoporin SEH1; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore; Belongs to the WD repeat SEC13 family." 9606.ENSP00000382783,CLDN8,225,"Claudin-8; Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction- specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity." 9606.ENSP00000382794,RNF212B,300,Ring finger protein 212B. 9606.ENSP00000382800,RUNX3,429,"Runt-related transcription factor 3; Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'- TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T [...] " 9606.ENSP00000382804,ODF3B,253,Outer dense fiber of sperm tails 3B. 9606.ENSP00000382805,BACH1,736,"Transcription regulator protein BACH1; Transcriptional regulator that acts as repressor or activator, depending on the context. Binds to NF-E2 DNA binding sites. Plays important roles in coordinating transcription activation and repression by MAFK (By similarity). Together with MAF, represses the transcription of genes under the control of the NFE2L2 oxidative stress pathway." 9606.ENSP00000382814,FAM234A,552,Protein FAM234A; Family with sequence similarity 234 member A; Belongs to the FAM234 family. 9606.ENSP00000382815,KIAA2026,2103,Uncharacterized protein KIAA2026; KIAA2026. 9606.ENSP00000382828,MAP3K7CL,242,MAP3K7 C-terminal-like protein; MAP3K7 C-terminal like. 9606.ENSP00000382856,MTRNR2L4,28,Humanin-like 4; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000382871,MAGEB16,324,Melanoma-associated antigen B16; MAGE family member B16. 9606.ENSP00000382884,MAGEB17,336,Melanoma-associated antigen B17; MAGE family member B17. 9606.ENSP00000382895,RPGRIP1,1286,X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells; Belongs to the RPGRIP1 family. 9606.ENSP00000382951,DEFB130A,79,Beta-defensin 130A; Antimicrobial host-defense peptide. Has an antiplasmodial activity. 9606.ENSP00000382953,GABRA5,462,"Gamma-aminobutyric acid receptor subunit alpha-5; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000382957,ZNF705D,300,Zinc finger protein 705D; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000382976,L3MBTL4,623,"Lethal(3)malignant brain tumor-like protein 4; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity)." 9606.ENSP00000382982,TUBA3C,450,Tubulin alpha 3c. 9606.ENSP00000382987,ZNF705B,300,Putative zinc finger protein 705B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000383003,FKBP1A,108,"Peptidyl-prolyl cis-trans isomerase FKBP1A; Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Belongs to the FKBP-type PPIase family. FKBP1 subfamily." 9606.ENSP00000383020,ZNF705G,300,Putative zinc finger protein 705G; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000383023,MYL5,173,Myosin light chain 5. 9606.ENSP00000383042,KDM1A,876,"Lysine-specific histone demethylase 1A; Histone demethylase that can demethylate both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demet [...] " 9606.ENSP00000383044,USP25,1125,"Ubiquitin carboxyl-terminal hydrolase 25; Deubiquitinating enzyme that hydrolyzes ubiquitin moieties conjugated to substrates and thus, functions to process newly synthesized Ubiquitin, to recycle ubiquitin molecules or to edit polyubiquitin chains and prevents proteasomal degradation of substrates. Hydrolyzes both 'Lys-48'- and 'Lys-63'-linked tetraubiquitin chains; Belongs to the peptidase C19 family." 9606.ENSP00000383053,EPHB2,1055,"Ephrin type-B receptor 2; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral corte [...] " 9606.ENSP00000383059,ARGLU1,273,Arginine and glutamate-rich protein 1; Required for the estrogen-dependent expression of ESR1 target genes. Can act in cooperation with MED1. 9606.ENSP00000383067,TPTEP2-CSNK1E,416,TPTEP2-CSNK1E readthrough. 9606.ENSP00000383089,TPTE2,522,"Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2; Acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5- trisphosphate." 9606.ENSP00000383096,RFPL2,378,Ret finger protein like 2. 9606.ENSP00000383115,COLEC12,742,"Collectin-12; Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-oros [...] " 9606.ENSP00000383145,SFI1,1242,Protein SFI1 homolog; Plays a role in the dynamic structure of centrosome- associated contractile fibers via its interaction with CETN2. Belongs to the SFI1 family. 9606.ENSP00000383168,PCBP3,371,Poly(rC)-binding protein 3; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. 9606.ENSP00000383178,DIAPH3,1193,"Protein diaphanous homolog 3; Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nuc [...] " 9606.ENSP00000383185,MACC1,852,"Metastasis-associated in colon cancer protein 1; Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo." 9606.ENSP00000383199,NEDD4L,975,"E3 ubiquitin-protein ligase NEDD4-like; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF- beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN5A/Nav1.5, SCN9A/Nav1.7, SCN10A/Nav1.8, KCNA3/Kv1.3, KCNH2, EAAT1, KCNQ2/Kv7.2, KCNQ3/Kv7.3 or CLC5. Promotes ubiquitination and [...] " 9606.ENSP00000383212,SGSM1,1148,"Small G protein signaling modulator 1; Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B; Belongs to the RUTBC family." 9606.ENSP00000383216,KRTAP10-12,245,"Keratin-associated protein 10-12; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000383219,KRTAP10-6,365,"Keratin-associated protein 10-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000383223,KRTAP10-5,271,"Keratin-associated protein 10-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family." 9606.ENSP00000383225,KRTAP10-4,401,"Keratin-associated protein 10-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family." 9606.ENSP00000383226,KRTAP10-1,282,"Keratin-associated protein 10-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000383232,GGT1-2,569,Gamma-glutamyltransferase 1. 9606.ENSP00000383234,MAPK4,587,"Mitogen-activated protein kinase 4; Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase s [...] " 9606.ENSP00000383256,SIAH3,269,"Seven in absentia homolog 3; Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria. Belongs to the SINA (Seven in absentia) family." 9606.ENSP00000383270,SMIM2,85,Small integral membrane protein 2. 9606.ENSP00000383274,EIF4G3,1621,"Eukaryotic translation initiation factor 4 gamma 3; Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Thought to be a functional homolog of EIF4G1." 9606.ENSP00000383295,NBEA,2946,Neurobeachin; Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). Belongs to the WD repeat neurobeachin family. 9606.ENSP00000383301,ZNF74,644,Zinc finger protein 74; May play a role in RNA metabolism; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000383303,DSCAM,2012,Down syndrome cell adhesion molecule; Cell adhesion molecule that plays a role in neuronal self- avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self- avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies. Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collabor [...] 9606.ENSP00000383333,MORC3,939,"MORC family CW-type zinc finger protein 3; Nuclear factor which forms MORC3-NBs (nuclear bodies) via an ATP-dependent mechanism. Sumoylated MORC3-NBs can also associate with PML-NBs. Recruits TP53 and SP100 to PML-NBs, thus regulating TP53 activity. Binds RNA in vitro. May be required for influenza A transcription during viral infection." 9606.ENSP00000383364,PLA2G2A,144,"Phospholipase A2, membrane associated; Catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Thought to participate in the regulation of phospholipid metabolism in biomembranes including eicosanoid biosynthesis. Independent of its catalytic activity, acts as a ligand for integrins. Binds to and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1. Binds to a site (site 2) which is distinct from the classical ligand-binding site (site 1) and induces integrin conformational changes and enhanced ligand binding to site 1. Induces cell proliferat [...] " 9606.ENSP00000383365,TXNRD2,524,"Thioredoxin reductase 2, mitochondrial; Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis. Maintains thioredoxin in a reduced state. May play a role in redox- regulated cell signaling." 9606.ENSP00000383366,EFCAB8,1288,EF-hand calcium-binding domain-containing protein 8; EF-hand calcium binding domain 8. 9606.ENSP00000383376,JAM2,312,"Junctional adhesion molecule B; Junctional adhesion protein that mediates heterotypic cell- cell interactions with its cognate receptor JAM3 to regulate different cellular processes. Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3. Plays a central role in leukocytes extravasation by facilitating not only transmigration but also tethering and rolling of leukocytes along the endothelium. Teth [...] " 9606.ENSP00000383382,GP1BB,206,"Platelet glycoprotein Ib beta chain; Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium." 9606.ENSP00000383392,NCAM2,837,Neural cell adhesion molecule 2; May play important roles in selective fasciculation and zone- to-zone projection of the primary olfactory axons. 9606.ENSP00000383396,DEFB116,102,Beta-defensin 116; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000383398,DEFB115,88,Beta-defensin 115; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000383402,PPP4R1,950,Serine/threonine-protein phosphatase 4 regulatory subunit 1; Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. 9606.ENSP00000383421,RBM11,281,Splicing regulator RBM11; Tissue-specific splicing factor with potential implication in the regulation of alternative splicing during neuron and germ cell differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect the choice of alternative 5' splice sites by binding to specific sequences in exons and antagonizing the SR protein SRSF1. 9606.ENSP00000383428,CECR2,1300,"Cat eye syndrome critical region protein 2; Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI- type complex. It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated. May also be inv [...] " 9606.ENSP00000383431,GAB4,574,GRB2 associated binding protein family member 4; Belongs to the GAB family. 9606.ENSP00000383433,ZDHHC20,365,"Palmitoyltransferase ZDHHC20; Catalyzes palmitoylation of Cys residues on target proteins. Catalyzes palmitoylation of Cys residues in the cytoplasmic C-terminus of EGFR, and modulates the duration of EGFR signaling by modulating palmitoylation-dependent EGFR internalization and degradation. Has a preference for acyl-CoA with C16 fatty acid chains. Can also utilize acyl-CoA with C14 and C18 fatty acid chains. Belongs to the DHHC palmitoyltransferase family." 9606.ENSP00000383456,C9orf152,239,Uncharacterized protein C9orf152; Chromosome 9 open reading frame 152. 9606.ENSP00000383474,C20orf202,122,Uncharacterized protein C20orf202; Chromosome 20 open reading frame 202. 9606.ENSP00000383505,KLHDC7A,777,Kelch domain containing 7A. 9606.ENSP00000383516,HMX1,348,Homeobox protein HMX1; DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear. 9606.ENSP00000383558,GCGR,477,"Glucagon receptor; G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signal [...] " 9606.ENSP00000383563,ZG16,167,Zymogen granule membrane protein 16; May play a role in protein trafficking. May act as a linker molecule between the submembranous matrix on the luminal side of zymogen granule membrane (ZGM) and aggregated secretory proteins during granule formation in the TGN; Belongs to the jacalin lectin family. 9606.ENSP00000383594,TMEM242,141,Transmembrane protein 242; Belongs to the TMEM242 family. 9606.ENSP00000383599,WDR47,927,WD repeat domain 47. 9606.ENSP00000383611,CCNL2,520,"Cyclin-L2; Involved in pre-mRNA splicing. May induce cell death, possibly by acting on the transcription and RNA processing of apoptosis-related factors." 9606.ENSP00000383682,FAM72D,149,Protein FAM72D; Family with sequence similarity 72 member D. 9606.ENSP00000383690,MASP2,686,"Mannan-binding lectin serine protease 2 A chain; Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase." 9606.ENSP00000383692,CENPS-CORT,164,CENPS-CORT readthrough. 9606.ENSP00000383698,SLC2A7,512,"Solute carrier family 2, facilitated glucose transporter member 7; Probable sugar transporter. Its physiological substrate is subject to discussion. Does not transport galactose, 2-deoxy-d-glucose and xylose ; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily." 9606.ENSP00000383710,FAAP20,189,FA core complex associated protein 20. 9606.ENSP00000383719,UBE2J2,275,Ubiquitin-conjugating enzyme E2 J2; Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000383737,DNAH14,453,Dynein axonemal heavy chain 14. 9606.ENSP00000383784,OAZ3,235,"Ornithine decarboxylase antizyme 3; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity. Stabilizes AZIN2 by interfering with its ubiquitination. Involved in the translocation of AZNI2 from ER- Golgi intermediate compartment (ERGIC) to the cytos [...] " 9606.ENSP00000383820,MIER1,565,Mesoderm induction early response protein 1; Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing. 9606.ENSP00000383840,MMACHC,282,"Methylmalonic aciduria and homocystinuria type C protein; Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate. Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin. Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen. Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and oth [...] " 9606.ENSP00000383851,KIAA1522,1094,Uncharacterized protein KIAA1522; KIAA1522. 9606.ENSP00000383866,SZRD1,152,SUZ RNA binding domain containing 1. 9606.ENSP00000383894,MATN3,486,Matrilin-3; Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. 9606.ENSP00000383900,LIPK,399,Lipase member K; Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers. 9606.ENSP00000383901,LIPM,423,Lipase member M; Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers. Belongs to the AB hydrolase superfamily. Lipase family. 9606.ENSP00000383909,DMRTA2,542,Doublesex- and mab-3-related transcription factor A2; May be involved in sexual development. 9606.ENSP00000383911,UBAC2,344,"Ubiquitin-associated domain-containing protein 2; Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets. In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin- mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6." 9606.ENSP00000383920,ASXL2,918,"Putative Polycomb group protein ASXL2; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome prolife [...] " 9606.ENSP00000383922,ZNF610,462,Zinc finger protein 610; May be involved in transcriptional regulation. 9606.ENSP00000383923,LIPN,398,Lipase member N; Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers. 9606.ENSP00000383931,GP5,560,Platelet glycoprotein V; The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. 9606.ENSP00000383933,TAFA5,132,"Chemokine-like protein TAFA-5; Acts as a chemokine-like protein by regulating cell proliferation and migration through activation of G protein-coupled receptors (GPCRs), such as S1PR2 and FPR2 (By similarity). Stimulates chemotactic migration of macrophages mediated by the MAPK3/ERK1 and AKT1 pathway (By similarity). Blocks TNFSF11/RANKL-induced osteoclast formation from macrophages by inhibiting up-regulation of osteoclast fusogenic and differentiation genes (By similarity). Stimulation of macrophage migration and inhibition of osteoclast formation is mediated via GPCR FPR2 (By simila [...] " 9606.ENSP00000383938,CRELD2,402,Protein disulfide isomerase CRELD2; Protein disulfide isomerase (By similarity). Might play a role in the unfolded protein response (By similarity). May regulate transport of alpha4-beta2 neuronal acetylcholine receptor. 9606.ENSP00000383949,SNU13,128,"NHP2-like protein 1, N-terminally processed; Involved in pre-mRNA splicing as component of the spliceosome. Binds to the 5'-stem-loop of U4 snRNA and thereby contributes to spliceosome assembly. The protein undergoes a conformational change upon RNA-binding." 9606.ENSP00000383986,CDCA7L,454,"Cell division cycle-associated 7-like protein; Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. Plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells. Involved in apoptotic signaling pathways; May act downstream of P38- kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1." 9606.ENSP00000383996,CERT1,752,Ceramide transfer protein; Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner. 9606.ENSP00000384000,ZNF681,645,Zinc finger protein 681; May be involved in transcriptional regulation. 9606.ENSP00000384004,POU6F2,691,"POU domain, class 6, transcription factor 2; Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA." 9606.ENSP00000384015,SUN1,785,SUN domain-containing protein 1; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial m [...] 9606.ENSP00000384018,NCOR2,2514,"Nuclear receptor corepressor 2; Transcriptional corepressor. Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 4 have different affinities for different nuclear receptors. Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and and [...] " 9606.ENSP00000384040,CCDC85A,553,Coiled-coil domain-containing protein 85A; May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family. 9606.ENSP00000384048,PAXIP1,1069,"PAX-interacting protein 1; Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP [...] " 9606.ENSP00000384053,CSF2RB,897,"Cytokine receptor common subunit beta; High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor." 9606.ENSP00000384081,EFR3B,817,"Protein EFR3 homolog B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3B probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect." 9606.ENSP00000384084,DTNB,627,Dystrobrevin beta. 9606.ENSP00000384092,POMC,267,Corticotropin-like intermediary peptide; [Corticotropin]: Stimulates the adrenal glands to release cortisol. [Melanocyte-stimulating hormone beta]: Increases the pigmentation of skin by increasing melanin production in melanocytes. [Met-enkephalin]: Endogenous opiate; Belongs to the POMC family. 9606.ENSP00000384109,CUL4B,913,"Cullin-4B; Core component of multiple cullin-RING-based E3 ubiquitin- protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and [...] " 9606.ENSP00000384115,MEI1,1274,Meiosis inhibitor protein 1; Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity). 9606.ENSP00000384117,C16orf86,317,Uncharacterized protein C16orf86; Chromosome 16 open reading frame 86. 9606.ENSP00000384126,LRRC32,662,"Transforming growth factor beta activator LRRC32; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta. Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta. Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs). [...] " 9606.ENSP00000384160,RBM33,1170,RNA binding motif protein 33. 9606.ENSP00000384164,KIF16B,1392,"Kinesin-like protein KIF16B; Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. Belongs to the TRAFAC class myosin-kines [...] " 9606.ENSP00000384169,FBLN2,1231,Fibulin-2; Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN. 9606.ENSP00000384179,ZFPM2,1151,"Zinc finger protein ZFPM2; Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By sim [...] " 9606.ENSP00000384182,SCFD2,684,Sec1 family domain-containing protein 2; May be involved in protein transport; Belongs to the STXBP/unc-18/SEC1 family. 9606.ENSP00000384183,CASTOR1,329,"Cytosolic arginine sensor for mTORC1 subunit 1; Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway; Belongs to the GATS family." 9606.ENSP00000384193,CADM2,437,"Cell adhesion molecule 2; Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes." 9606.ENSP00000384197,PDZRN4,1036,PDZ domain containing ring finger 4. 9606.ENSP00000384198,INO80D,1027,"INO80 complex subunit D; Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair." 9606.ENSP00000384211,PSME4,1843,"Proteasome activator complex subunit 4; Associated component of the proteasome that specifically recognizes acetylated histones and promotes ATP- and ubiquitin- independent degradation of core histones during spermatogenesis and DNA damage response. Recognizes and binds acetylated histones via its bromodomain-like (BRDL) region and activates the proteasome by opening the gated channel for substrate entry. Binds to the core proteasome via its C-terminus, which occupies the same binding sites as the proteasomal ATPases, opening the closed structure of the proteasome via an active gating [...] " 9606.ENSP00000384214,GAGE12D,117,G antigen 12D. 9606.ENSP00000384222,WWC2,1192,Protein WWC2; WW and C2 domain containing 2. 9606.ENSP00000384223,ECE2-2,883,EEF1AKMT4-ECE2 readthrough transcript protein; Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid- beta processing (By similarity); In the C-terminal section; belongs to the peptidase M13 family. 9606.ENSP00000384259,ATG4B,393,"Cysteine protease ATG4B; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3, GABARAPL1, GABARAPL2 and GABARAP, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms." 9606.ENSP00000384262,HPSE,543,"Heparanase 50 kDa subunit; Endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Participates in extracellular matrix (ECM) degradation and remodeling. Selectively cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Can also cleave the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying a 2-O-sulfo group, but not linkages between a glucuronic acid unit and a 2-O-sulfated iduronic acid moiety. It is essentially [...] " 9606.ENSP00000384264,CNGA1,759,"cGMP-gated cation channel alpha-1; Subunit of the rod cyclic GMP-gated cation channel, which is involved in the final stage of the phototransduction pathway. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/CNGB1 channels and, therefore, hyperpolarization of the membrane potential." 9606.ENSP00000384273,RELA,551,"Transcription factor p65; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain- containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one. The dimers bind at kap [...] " 9606.ENSP00000384290,WDR60,1066,WD repeat-containing protein 60; May play a role in ciliogenesis. 9606.ENSP00000384296,ACY1,408,Aminoacylase-1; Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate); Belongs to the peptidase M20A family. 9606.ENSP00000384302,WDR43,677,"WD repeat-containing protein 43; Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its t [...] " 9606.ENSP00000384330,MYH8,1937,Myosin-8; Muscle contraction. 9606.ENSP00000384331,CEBPZOS,80,Protein CEBPZOS; CEBPZ opposite strand. 9606.ENSP00000384334,MEIG1,88,Meiosis expressed gene 1 protein homolog; Essential for spermiogenesis. 9606.ENSP00000384347,TMEM18,143,"Transmembrane protein 18; Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC). Belongs to the TMEM18 family." 9606.ENSP00000384359,APOBEC3A,199,"DNA dC->dU-editing enzyme APOBEC-3A; DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T- cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression thro [...] " 9606.ENSP00000384363,GDPD3,318,"Lysophospholipase D GDPD3; Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) and lysophosphatidylcholine (lyso-PC), and to a lesser extent for lysophosphatidylethanolamine (lyso-PE). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine." 9606.ENSP00000384364,NPY,97,C-flanking peptide of NPY; NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone; Belongs to the NPY family. 9606.ENSP00000384367,KCTD1,257,"BTB/POZ domain-containing protein KCTD1; May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent." 9606.ENSP00000384369,METTL15,407,Probable methyltransferase-like protein 15; Probable S-adenosyl-L-methionine-dependent methyltransferase. 9606.ENSP00000384370,STEAP1B,342,STEAP family member 1B. 9606.ENSP00000384371,BCL6,706,"B-cell lymphoma 6 protein; Transcriptional repressor mainly required for germinal center (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6-binding site) or indirectly by repressing the transcriptional activity of transcription factors. In GC B-cells, represses gene [...] " 9606.ENSP00000384376,TDRD15,1934,Tudor domain containing 15. 9606.ENSP00000384387,HCRTR1,425,"Orexin receptor type 1; Moderately selective excitatory receptor for orexin-A and, with a lower affinity, for orexin-B neuropeptide. Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding." 9606.ENSP00000384398,MEX3D,651,"RNA-binding protein MEX3D; RNA binding protein, may be involved in post-transcriptional regulatory mechanisms." 9606.ENSP00000384400,CHKB,395,"Choline/ethanolamine kinase; Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis." 9606.ENSP00000384408,PARG,976,"Poly(ADP-ribose) glycohydrolase; Poly(ADP-ribose) glycohydrolase that degrades poly(ADP- ribose) by hydrolyzing the ribose-ribose bonds present in poly(ADP- ribose). PARG acts both as an endo- and exoglycosidase, releasing poly(ADP-ribose) of different length as well as ADP-ribose monomers. It is however unable to cleave the ester bond between the terminal ADP-ribose and ADP-ribosylated residues, leaving proteins that are mono-ADP-ribosylated. Poly(ADP-ribose) is synthesized after DNA damage is only present transiently and is rapidly degraded by PARG. Required to prevent detrimental ac [...] " 9606.ENSP00000384421,TFIP11,837,"Tuftelin-interacting protein 11; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP- containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extrac [...] " 9606.ENSP00000384433,KIF24,1368,"Kinesin-like protein KIF24; Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation. Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppres [...] " 9606.ENSP00000384434,ZGLP1,271,GATA-type zinc finger protein 1; Transcriptional repressor that plays a central role in somatic cells of the gonad and is required for germ cell development. Able to repress GATA transcription factor function (By similarity). 9606.ENSP00000384474,HYPK,129,"Huntingtin-interacting protein K; Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Regulator of the N-terminal acetyltransferase NAA10-NAA15 complex. Has been in one study shown to be required for optimal NAA10-NAA15 complex-mediated N-terminal acetylation. However, has been shown in another study to act in vitro as an inhibitor of NAA10-NAA15 complex-mediated N- terminal acetylation." 9606.ENSP00000384477,IFRD1,451,Interferon-related developmental regulator 1; Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand- induced signal (By similarity); Belongs to the IFRD family. 9606.ENSP00000384484,ADCY3,1145,Adenylate cyclase type 3; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis. Required for the perception of odorants. Required for normal sperm motility and normal male fertility. Plays a role in regulating insulin levels and body fat accumulation in response to a high fat diet. 9606.ENSP00000384490,CBX6,412,"Chromobox protein homolog 6; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Possibly contributes to the target selectivity of the PRC1 complex by binding specific regions of chromatin. Recruitment to chromatin might occur in an H3K27me3- in [...] " 9606.ENSP00000384491,RASSF8,419,Ras association domain family member 8. 9606.ENSP00000384513,ABCG5,651,ATP-binding cassette sub-family G member 5; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG8 has ATPase activity. 9606.ENSP00000384515,PARVB,397,"Beta-parvin; Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration. Belongs to the parvin family." 9606.ENSP00000384517,ARNTL,626,"Aryl hydrocarbon receptor nuclear translocator-like protein 1; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressur [...] " 9606.ENSP00000384524,ETV2,342,ETS translocation variant 2; Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. 9606.ENSP00000384527,ZBTB40,1239,Zinc finger and BTB domain-containing protein 40; May be involved in transcriptional regulation. 9606.ENSP00000384537,AKAP12,1782,A-kinase anchor protein 12; Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC). 9606.ENSP00000384545,BTBD3,522,BTB/POZ domain-containing protein 3; Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity). 9606.ENSP00000384551,NXPH1,271,Neurexophilin-1; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors. Belongs to the neurexophilin family. 9606.ENSP00000384563,OR6B2,312,Olfactory receptor 6B2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000384564,SELENOM,145,Selenoprotein M; May function as a thiol-disulfide oxidoreductase that participates in disulfide bond formation; Belongs to the selenoprotein M/F family. 9606.ENSP00000384570,CARD10,1032,Caspase recruitment domain-containing protein 10; Activates NF-kappa-B via BCL10 and IKK. 9606.ENSP00000384573,DAZ1,744,Deleted in azoospermia protein 1; RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells. 9606.ENSP00000384582,ADGRV1,6306,"Adhesion G-protein coupled receptor V1; G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing th [...] " 9606.ENSP00000384588,CYP4F11,524,"Cytochrome P450 4F11; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes with high efficiency the oxidation of the terminal carbon (omega-oxidation) of 3-hydroxy fatty acids, such as 3-hydroxyhexadecanoic and 3-hydroxyoctadecanoic aci [...] " 9606.ENSP00000384593,GAREM2,874,GRB2-associated and regulator of MAPK protein 2; Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway; Belongs to the GAREM family. 9606.ENSP00000384597,GTF2A1L,478,"TFIIA-alpha and beta-like factor; May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription. Belongs to the TFIIA subunit 1 family." 9606.ENSP00000384604,ALKAL2,152,ALK and LTK ligand 2; Ligand for receptor tyrosine kinases LTK and ALK. Stimulation of ALK signaling may be involved in regulation of cell proliferation and transformation. 9606.ENSP00000384610,PNPLA7,1342,"Patatin-like phospholipase domain-containing protein 7; Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy." 9606.ENSP00000384615,STON1,735,Stonin-1; May be involved in the endocytic machinery. 9606.ENSP00000384616,SLC49A3,560,Solute carrier family 49 member 3; Belongs to the major facilitator superfamily. 9606.ENSP00000384621,DQX1,717,ATP-dependent RNA helicase DQX1; DEAQ-box RNA dependent ATPase 1. 9606.ENSP00000384625,NLK,527,"Serine/threonine-protein kinase NLK; Serine/threonine-protein kinase that regulates a number of transcription factors with key roles in cell fate determination. Positive effector of the non-canonical Wnt signaling pathway, acting downstream of WNT5A, MAP3K7/TAK1 and HIPK2. Activation of this pathway causes binding to and phosphorylation of the histone methyltransferase SETDB1. The NLK-SETDB1 complex subsequently interacts with PPARG, leading to methylation of PPARG target promoters at histone H3K9 and transcriptional silencing. The resulting loss of PPARG target gene transcription inhi [...] " 9606.ENSP00000384629,KMT5A,352,"N-lysine methyltransferase KMT5A; Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper [...] " 9606.ENSP00000384638,CTNNA2,953,Catenin alpha-2; May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system (By similarity). Required for proper regulation of cortical neuronal migration and neurite growth. It acts as negative regulator of Arp2/3 complex activity and Arp2/3- mediated actin polymerization. It thereby suppresses excessive actin branching which would impair neurite growth and stability. Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in th [...] 9606.ENSP00000384651,MTMR3,1198,"Myotubularin-related protein 3; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3- phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues." 9606.ENSP00000384653,PSTK,358,"L-seryl-tRNA(Sec) kinase; Specifically phosphorylates seryl-tRNA(Sec) to O- phosphoseryl-tRNA(Sec), an activated intermediate for selenocysteine biosynthesis." 9606.ENSP00000384667,C22orf23,217,UPF0193 protein EVG1; Chromosome 22 open reading frame 23. 9606.ENSP00000384670,KIAA1210,1709,Acrosomal protein KIAA1210; KIAA1210. 9606.ENSP00000384675,SOS1,1333,"Son of sevenless homolog 1; Promotes the exchange of Ras-bound GDP by GTP. Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF. Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity)." 9606.ENSP00000384683,RNASE9,210,Inactive ribonuclease-like protein 9; Does not exhibit any ribonuclease activity. Belongs to the pancreatic ribonuclease family. 9606.ENSP00000384690,MMD2,270,Monocyte to macrophage differentiation associated 2. 9606.ENSP00000384700,PAPOLB,637,poly(A) polymerase beta. 9606.ENSP00000384708,FSHR,695,"Follicle-stimulating hormone receptor; G protein-coupled receptor for follitropin, the follicle- stimulating hormone. Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways." 9606.ENSP00000384716,ZDHHC8,778,Probable palmitoyltransferase ZDHHC8; Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily. 9606.ENSP00000384719,VSNL1,191,Visinin-like protein 1; Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner; Belongs to the recoverin family. 9606.ENSP00000384725,PRDM6,595,"Putative histone-lysine N-methyltransferase PRDM6; Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone meth [...] " 9606.ENSP00000384744,DERL3,239,"Derlin-3; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins. May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the e [...] " 9606.ENSP00000384763,SLC8A1,973,"Sodium/calcium exchanger 1; Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels ra [...] " 9606.ENSP00000384766,RSPH10B2,870,Radial spoke head 10 homolog B2. 9606.ENSP00000384770,PSG4,419,Pregnancy specific beta-1-glycoprotein 4. 9606.ENSP00000384792,WDR62,1523,"WD repeat-containing protein 62; Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication." 9606.ENSP00000384794,A4GALT,353,"Lactosylceramide 4-alpha-galactosyltransferase; Catalyzes the transfer of galactose from UDP-alpha-D- galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer. Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Ce [...] " 9606.ENSP00000384801,PCNX4,1172,Pecanex-like protein 4; Pecanex 4; Belongs to the pecanex family. 9606.ENSP00000384823,FBXO11,927,"F-box only protein 11; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cel [...] " 9606.ENSP00000384830,PSD,1024,PH and SEC7 domain-containing protein 1; Guanine nucleotide exchange factor for ARF6. Induces cytoskeletal remodeling (By similarity). Belongs to the PSD family. 9606.ENSP00000384832,FAM104A,207,Protein FAM104A; Family with sequence similarity 104 member A; Belongs to the FAM104 family. 9606.ENSP00000384848,PRR5,411,"Proline-rich protein 5; Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 [...] " 9606.ENSP00000384849,CDKN1A,164,"Cyclin-dependent kinase inhibitor 1; May be involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin- dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D- CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 [...] " 9606.ENSP00000384851,ESRRA,423,"Steroid hormone receptor ERR1; Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium- chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle." 9606.ENSP00000384863,XPO1,1071,"Exportin-1; Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the ca [...] " 9606.ENSP00000384869,CLHC1,586,Clathrin heavy chain linker domain containing 1. 9606.ENSP00000384881,ABCB5,1257,"ATP-binding cassette sub-family B member 5; Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair." 9606.ENSP00000384886,IFI30,250,Gamma-interferon-inducible lysosomal thiol reductase; Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction of disulfide bonds (By similarity). Facilitates also MHC class I- restricted recognition of exogenous antigens containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity). 9606.ENSP00000384887,CEACAM19,300,CEA cell adhesion molecule 19; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000384894,AQP12B,307,Aquaporin-12B; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes; Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. 9606.ENSP00000384899,GATAD2A,634,Transcriptional repressor p66-alpha; Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2B. 9606.ENSP00000384906,SAA1,122,Serum amyloid protein A(2-102); Major acute phase protein; Belongs to the SAA family. 9606.ENSP00000384924,RTL10,364,Protein Bop; Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity. 9606.ENSP00000384932,GPR12,334,G-protein coupled receptor 12; Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). Receptor with constitutive G(s) signaling activity that stimulates cyclic AMP production; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000384949,PYCR1,346,"Pyrroline-5-carboxylate reductase 1, mitochondrial; Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress. Belongs to the pyrroline-5-carboxylate reductase family." 9606.ENSP00000384950,SULT6B1,265,Sulfotransferase 6B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity). 9606.ENSP00000384952,MRPS12,138,Mitochondrial ribosomal protein S12. 9606.ENSP00000384957,F11,625,Coagulation factor XIa heavy chain; Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX. 9606.ENSP00000384964,TMPRSS6,824,"Transmembrane protease serine 6; Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis." 9606.ENSP00000384966,IMMP2L,175,"Mitochondrial inner membrane protease subunit 2; Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO; Belongs to the peptidase S26 family. IMP2 subfamily." 9606.ENSP00000384971,LRRC72,287,Leucine-rich repeat-containing protein 72; Leucine rich repeat containing 72. 9606.ENSP00000384973,CHCHD10,149,"Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial; May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure." 9606.ENSP00000384996,TBC1D10A,515,"TBC1 domain family member 10A; Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A." 9606.ENSP00000384999,P4HA2,535,Prolyl 4-hydroxylase subunit alpha-2; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. 9606.ENSP00000385000,KIF2A,744,Kinesin-like protein KIF2A; Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity. 9606.ENSP00000385006,THAP4,577,THAP domain containing 4. 9606.ENSP00000385019,CACNA1I,2223,"Voltage-dependent T-type calcium channel subunit alpha-1I; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite [...] " 9606.ENSP00000385021,FANCL,380,"E3 ubiquitin-protein ligase FANCL; Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth." 9606.ENSP00000385025,SMCR8,937,"Guanine nucleotide exchange protein SMCR8; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activ [...] " 9606.ENSP00000385026,CHRNA2,529,"Neuronal acetylcholine receptor subunit alpha-2; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-2/CHRNA2 sub- subfamily." 9606.ENSP00000385028,SLC22A23,686,Solute carrier family 22 member 23. 9606.ENSP00000385035,C1S,688,"Complement C1s subcomponent heavy chain; C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4." 9606.ENSP00000385055,HORMAD2,307,"HORMA domain-containing protein 2; Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid- pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break- independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for norm [...] " 9606.ENSP00000385057,APOBEC3G,384,"DNA dC->dU-editing enzyme APOBEC-3G; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. Exhibits potent antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental [...] " 9606.ENSP00000385080,FAH,419,Fumarylacetoacetase; Fumarylacetoacetate hydrolase. 9606.ENSP00000385087,TMEM196,179,Transmembrane protein 196. 9606.ENSP00000385089,TMEM45A,291,Transmembrane protein 45A. 9606.ENSP00000385096,KCTD17,321,"BTB/POZ domain-containing protein KCTD17; Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate- adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. May be involved in endoplasmic reticulum calcium ion homeostasis." 9606.ENSP00000385098,FLACC1,445,Flagellum-associated coiled-coil domain-containing protein 1; Flagellum associated containing coiled-coil domains 1. 9606.ENSP00000385099,ZNF792,632,Zinc finger protein 792; May be involved in transcriptional regulation. 9606.ENSP00000385110,MIEF1,478,"Mitochondrial dynamics protein MID51; Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assem [...] " 9606.ENSP00000385118,PRR16,304,"Protein Largen; Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration." 9606.ENSP00000385142,NRXN1,1547,"Neurexin-1; Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N- terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect [...] " 9606.ENSP00000385143,UNC5D,953,Netrin receptor UNC5D; Receptor for the netrin NTN4 that promotes neuronal cell survival (By similarity). Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). May play a role in apoptosis in response to DNA damage. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Mediates cell-cell adhesion via its interaction with FLRT3 on an [...] 9606.ENSP00000385158,FAM161A,716,Protein FAM161A; Involved in ciliogenesis. 9606.ENSP00000385163,ZNF155,549,Zinc finger protein 155; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000385169,R3HDM2,1010,R3H domain containing 2. 9606.ENSP00000385205,PICK1,415,"PRKCA-binding protein; Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive w [...] " 9606.ENSP00000385207,GAL3ST1,423,"Galactosylceramide sulfotransferase; Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro); Belongs to the galactose-3-O-sulfotransferase family." 9606.ENSP00000385215,CEP162,1403,"Centrosomal protein of 162 kDa; Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules. Belongs to the CEP162 family." 9606.ENSP00000385216,NCOA1,1441,"Nuclear receptor coactivator 1; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone- dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating m [...] " 9606.ENSP00000385235,LARGE2,721,"LARGE xylosyl- and glucuronyltransferase 2; Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by [...] " 9606.ENSP00000385247,CAPN14,684,Calpain-14; Calcium-regulated non-lysosomal thiol-protease. 9606.ENSP00000385269,ELAVL1,326,"ELAV-like protein 1; RNA-binding protein that binds to the 3'-UTR region of mRNAs and increases their stability. Involved in embryonic stem cells (ESCs) differentiation: preferentially binds mRNAs that are not methylated by N6-methyladenosine (m6A), stabilizing them, promoting ESCs differentiation (By similarity). Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs. Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA, and AUUUUU [...] " 9606.ENSP00000385277,ELFN2,820,Protein phosphatase 1 regulatory subunit 29; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. 9606.ENSP00000385285,RNF32,362,RING finger protein 32; May play a role in sperm formation. 9606.ENSP00000385300,CLDN15,228,"Claudin-15; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members function as impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN15 forms tight junctions that mediate the paracellular transport of small monovalent cations along a concentration gradient, due to selective permeability for Na(+), Li(+) and K(+) ions, but selects a [...] " 9606.ENSP00000385312,SLC25A19,320,Mitochondrial thiamine pyrophosphate carrier; Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. 9606.ENSP00000385334,MAD1L1,718,"Mitotic spindle assembly checkpoint protein MAD1; Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding." 9606.ENSP00000385347,TAPT1,567,Transmembrane anterior posterior transformation protein 1 homolog; Plays a role in primary cilia formation. May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity). 9606.ENSP00000385357,CCDC157,752,Coiled-coil domain containing 157. 9606.ENSP00000385361,VPREB1,145,Immunoglobulin iota chain; Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B- cell differentiation. 9606.ENSP00000385385,PDIA6,492,"Protein disulfide-isomerase A6; May function as a chaperone that inhibits aggregation of misfolded proteins. Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling. May also regulate the UPR via the EIF2AK3 UPR sensor. Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin." 9606.ENSP00000385410,NOLC1,709,"Nucleolar and coiled-body phosphoprotein 1; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification. Involved in nucleologenesis, possibly [...] " 9606.ENSP00000385415,GAGE10,116,G antigen 10; Belongs to the GAGE family. 9606.ENSP00000385428,NLRC4,1024,"NLR family CARD domain-containing protein 4; Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity)." 9606.ENSP00000385432,SAR1B,198,GTP-binding protein SAR1b; Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex. 9606.ENSP00000385443,RSPH10B,870,Radial spoke head 10 homolog B. 9606.ENSP00000385450,MAGI1,1462,"Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1; May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity)." 9606.ENSP00000385451,MDK,143,"Midkine; Secreted protein that functions as cytokine and growth factor and mediates its signal through cell-surface proteoglycan and non- proteoglycan receptors. Binds cell-surface proteoglycan receptors via their chondroitin sulfate (CS) groups. Thereby regulates many processes like inflammatory response, cell proliferation, cell adhesion, cell growth, cell survival, tissue regeneration, cell differentiation and cell migration. Participates in inflammatory processes by exerting two different activities. Firstly, mediates neutrophils and macrophages recruitment to the sites of inflamma [...] " 9606.ENSP00000385452,CGREF1,318,Cell growth regulator with EF hand domain protein 1; Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines. 9606.ENSP00000385461,TFDP3,405,Transcription factor Dp family member 3; Competitive inhibitor of E2F-mediated transactivation activity. Impairs E2F-mediated cell-cycle progression from G(1) to S phase; Belongs to the E2F/DP family. 9606.ENSP00000385470,TNFSF18,199,Tumor necrosis factor ligand superfamily member 18; Cytokine that binds to TNFRSF18/AITR/GITR. Regulates T-cell responses. Can function as costimulator and lower the threshold for T- cell activation and T-cell proliferation. Important for interactions between activated T-lymphocytes and endothelial cells. Mediates activation of NF-kappa-B. Triggers increased phosphorylation of STAT1 and up-regulates expression of VCAM1 and ICAM1. Promotes leukocyte adhesion to endothelial cells. Regulates migration of monocytes from the splenic reservoir to sites of inflammation (By similarity). Belong [...] 9606.ENSP00000385477,CLDN5,303,Claudin-5; Plays a major role in tight junction-specific obliteration of the intercellular space. 9606.ENSP00000385478,CRPPA,451,"D-ribitol-5-phosphate cytidylyltransferase; Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate. CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O- mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N- acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Shows activity toward other pentose phos [...] " 9606.ENSP00000385479,H3C15,136,H3 clustered histone 15. 9606.ENSP00000385480,SYCE3,88,"Synaptonemal complex central element protein 3; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for chromosome loading of the central element-specific SCS proteins, and for initiating synapsis between homologous chromosomes. Chromosome loading appears to require SYCP1. Required for fertility." 9606.ENSP00000385494,TMEM211,129,Transmembrane protein 211. 9606.ENSP00000385510,GPSM2,684,"G-protein-signaling modulator 2; Plays an important role in mitotic spindle pole organization via its interaction with NUMA1. Required for cortical dynein-dynactin complex recruitment during metaphase. Plays a role in metaphase spindle orientation. Plays also an important role in asymmetric cell divisions. Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity)." 9606.ENSP00000385519,CD14,375,"Monocyte differentiation antigen CD14, membrane-bound form; Coreceptor for bacterial lipopolysaccharide. In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signa [...] " 9606.ENSP00000385523,PPARA,468,"Peroxisome proliferator-activated receptor alpha; Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn- glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and [...] " 9606.ENSP00000385545,KIF26B,2108,"Kinesin-like protein KIF26B; Essential for embryonic kidney development. Plays an important role in the compact adhesion between mesenchymal cells adjacent to the ureteric buds, possibly by interacting with MYH10. This could lead to the establishment of the basolateral integrity of the mesenchyme and the polarized expression of ITGA8, which maintains the GDNF expression required for further ureteric bud attraction. Although it seems to lack ATPase activity it is constitutively associated with microtubules (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. K [...] " 9606.ENSP00000385571,HIPK2,1198,"Homeodomain-interacting protein kinase 2; Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect [...] " 9606.ENSP00000385579,KIAA1841,718,Uncharacterized protein KIAA1841; KIAA1841. 9606.ENSP00000385586,HOXD12,270,Homeobox protein Hox-D12; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family. 9606.ENSP00000385592,IGSF23,192,Immunoglobulin superfamily member 23. 9606.ENSP00000385610,MEX3C,659,"RNA-binding E3 ubiquitin-protein ligase MEX3C; E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation." 9606.ENSP00000385616,SUN2,738,"SUN domain-containing protein 2; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-depend [...] " 9606.ENSP00000385632,PDE7A,482,"High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May have a role in muscle signal transduction; Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily." 9606.ENSP00000385636,OBSL1,1896,"Obscurin-like protein 1; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons." 9606.ENSP00000385675,IL6,212,"Interleukin-6; Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasm [...] " 9606.ENSP00000385684,HERC3,1050,Probable E3 ubiquitin-protein ligase HERC3; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. 9606.ENSP00000385689,GRAMD4,578,GRAM domain-containing protein 4; Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. Inhibits TLR9 response to nucelic acids and regulates TLR9-mediated innate immune response (By similarity). 9606.ENSP00000385695,SEC14L6,397,Putative SEC14-like protein 6; SEC14 like lipid binding 6. 9606.ENSP00000385706,PSG2,335,Pregnancy specific beta-1-glycoprotein 2. 9606.ENSP00000385714,DDT-2,132,D-dopachrome decarboxylase. 9606.ENSP00000385721,GGT2,569,"Inactive glutathione hydrolase 2; Isoform 1, isoform 2 and isoform 3 lack catalytic activity due to its inability to undergo the autocatalytic cleavage needed to produce a mature, enzymatically active heterodimer." 9606.ENSP00000385722,INTS1,2190,"Integrator complex subunit 1; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex." 9606.ENSP00000385725,POLR2F,158,"DNA-directed RNA polymerases I, II, and III subunit RPABC2; DNA-dependent RNA polymerases catalyze the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of th [...] " 9606.ENSP00000385727,MAST4,2623,Microtubule associated serine/threonine kinase family member 4; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. 9606.ENSP00000385739,CEACAM21,293,CEA cell adhesion molecule 21; Belongs to the immunoglobulin superfamily. CEA family. 9606.ENSP00000385741,APOBEC3H,200,"DNA dC->dU-editing enzyme APOBEC-3H; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase- dependent and -independent mechanisms. The A3H-var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resu [...] " 9606.ENSP00000385746,SMS,366,Spermine synthase; Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM). 9606.ENSP00000385749,PRKAR1B,381,cAMP-dependent protein kinase type I-beta regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. 9606.ENSP00000385751,MARK2,788,"Serine/threonine-protein kinase MARK2; Serine/threonine-protein kinase. Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TAU. Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual ac [...] " 9606.ENSP00000385757,BLVRA,296,"Biliverdin reductase A; Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor." 9606.ENSP00000385763,PTGR1,329,"Prostaglandin reductase 1; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha (By similarity). Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo- leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4." 9606.ENSP00000385780,DGKB,804,Diacylglycerol kinase beta; Exhibits high phosphorylation activity for long-chain diacylglycerols. 9606.ENSP00000385787,POP1,1024,"Ribonucleases P/MRP protein subunit POP1; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences." 9606.ENSP00000385795,PHF14,888,PHD finger protein 14. 9606.ENSP00000385808,KIF3A,726,Kinesin-like protein KIF3A; Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitment of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily. 9606.ENSP00000385814,RPAIN,231,"RPA-interacting protein; Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism." 9606.ENSP00000385823,MTA3,594,"Metastasis-associated protein MTA3; Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent manner, and thus the regulation of E-cadherin levels. Contributes to transcriptional repression by BCL6." 9606.ENSP00000385828,TST,297,"Thiosulfate sulfurtransferase; Formation of iron-sulfur complexes, cyanide detoxification or modification of sulfur-containing enzymes. Other thiol compounds, besides cyanide, can act as sulfur ion acceptors. Also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA." 9606.ENSP00000385834,TF,698,"Serotransferrin; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation." 9606.ENSP00000385836,CALHM4,171,Calcium homeostasis modulator protein 4; Pore-forming subunit of a voltage-gated ion channel. 9606.ENSP00000385848,PARD3B,1205,Partitioning defective 3 homolog B; Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions; Belongs to the PAR3 family. 9606.ENSP00000385852,SETD5,1442,Histone-lysine N-methyltransferase SETD5; Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 in vitro. The physiological significance of this activity is unclear. Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription. 9606.ENSP00000385885,DUSP28,176,"Dual specificity phosphatase 28; Has phosphatase activity with the synthetic substrate 6,8- difluoro-4-methylumbelliferyl phosphate (in vitro). Has almost no detectable activity with phosphotyrosine, even less activity with phosphothreonine and displays complete lack of activity with phosphoserine. The poor activity with phosphotyrosine may be due to steric hindrance by bulky amino acid sidechains that obstruct access to the active site ; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000385886,RASGRP3,690,Ras guanyl-releasing protein 3; Guanine nucleotide exchange factor (GEF) for Ras and Rap1. 9606.ENSP00000385887,ANKMY1,1030,Ankyrin repeat and MYND domain containing 1. 9606.ENSP00000385892,PLEKHB2,236,Pleckstrin homology domain-containing family B member 2; Involved in retrograde transport of recycling endosomes. 9606.ENSP00000385899,SDK1,2213,Protein sidekick-1; Adhesion molecule that promotes lamina-specific synaptic connections in the retina. Expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions. 9606.ENSP00000385905,DNASE1,282,"Deoxyribonuclease-1; Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs. Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By s [...] " 9606.ENSP00000385923,NUCB1,461,Nucleobindin-1; Major calcium-binding protein of the Golgi which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates alpha subunits of guanine nucleotide-binding proteins (G proteins) (By similarity). 9606.ENSP00000385927,RMDN1,314,Regulator of microtubule dynamics 1. 9606.ENSP00000385936,DCDC1,890,Doublecortin domain-containing protein 1; Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis. 9606.ENSP00000385939,ZNF12,697,Zinc finger protein 12; Transcriptional repressor which suppresses activation protein 1 (AP-1)- and serum response element (SRE)-mediated transcriptional activity. 9606.ENSP00000385957,KBTBD12,623,Kelch repeat and BTB domain containing 12. 9606.ENSP00000385958,RPS14,151,Ribosomal protein S14. 9606.ENSP00000385968,KCNS3,491,Potassium voltage-gated channel subfamily S member 3; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1. Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). 9606.ENSP00000385990,FASTKD2,710,"FAST kinase domain-containing protein 2, mitochondrial; Plays an important role in assembly of the mitochondrial large ribosomal subunit. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt- rRNA), controls 16S mt-rRNA abundance and is required for intra- mitochondrial translation." 9606.ENSP00000385995,THADA,1953,Thyroid adenoma-associated protein; THADA armadillo repeat containing; Belongs to the THADA family. 9606.ENSP00000386022,MS4A15,240,Membrane-spanning 4-domains subfamily A member 15; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000386023,BUD31,144,Protein BUD31 homolog; Involved in the pre-mRNA splicing process. May play a role as regulator of AR transcriptional activity; may increase AR transcriptional activity. 9606.ENSP00000386029,GABRR2,465,"Gamma-aminobutyric acid receptor subunit rho-2; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission." 9606.ENSP00000386041,MYH6,1939,Myosin-6; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. 9606.ENSP00000386043,LTBP1,1721,"Latent-transforming growth factor beta-binding protein 1; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta. Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta. Belongs to the LTBP family." 9606.ENSP00000386049,MBD5,1494,Methyl-CpG-binding domain protein 5; Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro). 9606.ENSP00000386069,ADRA2C,462,Alpha-2C adrenergic receptor; Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA2C sub-subfamily. 9606.ENSP00000386096,MYO18B,2568,"Unconventional myosin-XVIIIb; May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family." 9606.ENSP00000386104,CPE,476,"Carboxypeptidase E; Sorting receptor that directs prohormones to the regulated secretory pathway. Acts also as a prohormone processing enzyme in neuro/endocrine cells, removing dibasic residues from the C-terminal end of peptide hormone precursors after initial endoprotease cleavage. Belongs to the peptidase M14 family." 9606.ENSP00000386118,TEX33,280,Testis-expressed protein 33; Testis expressed 33. 9606.ENSP00000386125,ARMC5,1030,"Armadillo repeat-containing protein 5; Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production." 9606.ENSP00000386126,UMODL1,1446,Uromodulin like 1. 9606.ENSP00000386133,POM121L12,296,POM121-like protein 12; POM121 transmembrane nucleoporin like 12; Belongs to the POM121 family. 9606.ENSP00000386134,NGDN,315,Neuroguidin; Involved in the translational repression of cytoplasmic polyadenylation element (CPE)-containing mRNAs; Belongs to the SAS10 family. 9606.ENSP00000386135,DAPK1,1430,"Death-associated protein kinase 1; Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell deaths signal, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Phosphorylates PIN1 resulting in inhibition of its catalytic activity, nuclear localization, and cellular function. Phosphorylates TPM1, enhancing stress [...] " 9606.ENSP00000386141,XKR9,373,XK-related protein 9; XK related 9. 9606.ENSP00000386143,HEPN1,88,"Putative cancer susceptibility gene HEPN1 protein; Hepatocellular carcinoma, down-regulated 1." 9606.ENSP00000386146,C6orf226,101,Uncharacterized protein C6orf226; Chromosome 6 open reading frame 226. 9606.ENSP00000386156,PYM1,204,"Partner of Y14 and mago; Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon- exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation. Acts as an EJC disassembly factor, allowing translation-dependent EJC removal and recycling by disrupting mature EJC from spliced mRNAs. Its association with the 40S ribosomal subunit probably prevents a translatio [...] " 9606.ENSP00000386162,LCNL1,164,Lipocalin-like 1 protein; Lipocalin like 1; Belongs to the calycin superfamily. Lipocalin family. 9606.ENSP00000386165,CEBPD,269,CCAAT/enhancer-binding protein delta; Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Important transcription factor regulating the expression of genes involved in immune and inflammatory responses. Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB ; Belongs to the bZIP family. C/EBP subfamily. 9606.ENSP00000386170,TBX20,447,T-box transcription factor TBX20; Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart. 9606.ENSP00000386180,OR3A2,321,Olfactory receptor 3A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000386181,TTC30B,665,"Tetratricopeptide repeat protein 30B; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip." 9606.ENSP00000386184,ZBED8,594,Protein ZBED8; Zinc finger BED-type containing 8. 9606.ENSP00000386186,TIGD1,591,Tigger transposable element derived 1. 9606.ENSP00000386190,C2orf16,1984,Uncharacterized protein C2orf16; Chromosome 2 open reading frame 16. 9606.ENSP00000386193,ARIH2OS,290,Uncharacterized protein ARIH2OS; ARIH2 opposite strand lncRNA. 9606.ENSP00000386200,FOXP2,740,"Forkhead box protein P2; Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language." 9606.ENSP00000386201,TAS2R41,307,"Taste receptor type 2 member 41; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000386207,HMSD,139,Serpin-like protein HMSD; Putative serine protease inhibitor. 9606.ENSP00000386209,OR2A2,318,Olfactory receptor 2A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000386210,TAS2R40,323,Taste receptor type 2 member 40; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. 9606.ENSP00000386212,PSMB11,300,"Proteasome subunit beta type-11; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome (By similarity). Plays a pivotal role in development of CD8-positive T cells (By similarity). Belongs to the peptidase T1B family." 9606.ENSP00000386213,MYO3B,1341,"Myosin-IIIb; Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments." 9606.ENSP00000386219,C3orf36,165,Uncharacterized protein C3orf36. 9606.ENSP00000386222,OR2F2,317,Olfactory receptor 2F2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000386226,RBM34,430,RNA binding motif protein 34. 9606.ENSP00000386227,MCC,1019,"Colorectal mutant cancer protein; Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b- catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation. Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2- dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and [...] " 9606.ENSP00000386229,RGS14,566,"Regulator of G-protein signaling 14; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP- bound form. Besides, modulates signal transduction via G protein alpha subunits by functioning as a GDP-dissociation inhibitor (GDI). Has GDI activity on G(i) alpha subunits GNAI1 and GNAI3, but not on GNAI2 and G(o) alpha subunit GNAO1. Has GAP activity on GNAI0, GNAI2 and GNAI3. May act as a scaffold integrating G protein and Ras/Raf MAPkinase signaling pa [...] " 9606.ENSP00000386230,C19orf73,129,Putative uncharacterized protein C19orf73; Chromosome 19 open reading frame 73. 9606.ENSP00000386239,TONSL,1378,"Tonsoku-like protein; Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double- strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold. Belongs to the Tonsoku family." 9606.ENSP00000386248,ELMOD3,381,ELMO domain-containing protein 3; Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity. 9606.ENSP00000386264,TMEM237,408,Transmembrane protein 237; Component of the transition zone in primary cilia. Required for ciliogenesis; Belongs to the TMEM237 family. 9606.ENSP00000386272,SLC38A11,406,Putative sodium-coupled neutral amino acid transporter 11; Putative sodium-dependent amino acid/proton antiporter. 9606.ENSP00000386277,CNPPD1,410,Protein CNPPD1; Cyclin Pas1/PHO80 domain containing 1. 9606.ENSP00000386280,APOL6,343,Apolipoprotein L6; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. 9606.ENSP00000386284,ALAD,330,"Delta-aminolevulinic acid dehydratase; Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen; Belongs to the ALAD family." 9606.ENSP00000386289,GULP1,304,"PTB domain-containing engulfment adapter protein 1; May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6." 9606.ENSP00000386292,NEMP2,417,Nuclear envelope integral membrane protein 2; Belongs to the NEMP family. 9606.ENSP00000386302,C2orf76,126,UPF0538 protein C2orf76; Chromosome 2 open reading frame 76; Belongs to the UPF0538 family. 9606.ENSP00000386306,SCN9A,1977,"Sodium channel protein type 9 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.7/SCN9A subfamily." 9606.ENSP00000386331,MYO7A,2215,"Unconventional myosin-VIIa; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differenti [...] " 9606.ENSP00000386348,SAPCD2,394,Suppressor APC domain-containing protein 2; Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions (By similarity). Negatively regulates the mitotic apical cortex localization of GPSM2. Involved also in positive regulation of cell proliferation and tumor cell growth. 9606.ENSP00000386376,KRTAP19-3,81,"Keratin-associated protein 19-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 19 family." 9606.ENSP00000386378,CD207,328,"C-type lectin domain family 4 member K; Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency virus-1 (HIV- [...] " 9606.ENSP00000386380,IL1R1,569,"Interleukin-1 receptor type 1, membrane form; Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1- dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling comp [...] " 9606.ENSP00000386385,PXMP4,212,Peroxisomal membrane protein 4. 9606.ENSP00000386389,KLHL30,578,Kelch-like protein 30; Kelch like family member 30. 9606.ENSP00000386398,ANKRD30BL,258,Putative ankyrin repeat domain-containing protein 30B-like; Ankyrin repeat domain 30B like. 9606.ENSP00000386414,RAD21L1,556,"Double-strand-break repair protein rad21-like protein 1; Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity)." 9606.ENSP00000386419,MZT2B,218,Mitotic spindle organizing protein 2B. 9606.ENSP00000386433,ZNF638,1978,"Zinc finger protein 638; Transcription factor that binds to cytidine clusters in double-stranded DNA. Plays a key role in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed. Mediates transcriptional repression of unintegrated viral DNA by specifically binding to the cytidine clusters of retroviral DNA and mediating the recruitment of chromatin silencers, such as the HUSH complex, SETDB1 and the histone deacetylases HDAC1 and HDAC4. Acts as an early re [...] " 9606.ENSP00000386439,SYNC,482,Syncoilin; Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins. 9606.ENSP00000386443,TGOLN2,453,Trans-Golgi network integral membrane protein 2; May be involved in regulating membrane traffic to and from trans-Golgi network. 9606.ENSP00000386444,SAG,405,"S-arrestin; Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells." 9606.ENSP00000386450,LLCFC1,147,LLLL and CFNLAS motif containing 1. 9606.ENSP00000386452,MEIOC,952,Meiosis-specific coiled-coil domain-containing protein MEIOC; Is required for meiosis completion in both male and female germ cells. Confers stability to numerous meiotic mRNAs in gonads allowing proper initiation and progression into meiosis prophase I. The function may involve YTHDC2 and is independent of induction by retinoic acid (RA). Maintains an extended meiotic prophase I by properly promoting the transition from a mitotic to a meiotic cell cycle program by binding transcripts through its interaction with YTHDC2 that regulate the mitotic cell cycle. 9606.ENSP00000386453,CYSRT1,184,Cysteine rich tail 1. 9606.ENSP00000386456,AAK1,961,"AP2-associated protein kinase 1; Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to [...] " 9606.ENSP00000386458,PRPF40A,930,"Pre-mRNA-processing factor 40 homolog A; Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing; Belongs to the PRPF40 family." 9606.ENSP00000386485,COA8,206,"Cytochrome c oxidase assembly factor 8; Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain." 9606.ENSP00000386488,ZC3H8,291,"Zinc finger CCCH domain-containing protein 8; Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5'-AGGTCTC-3' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis." 9606.ENSP00000386498,HOXD3,432,Homeobox protein Hox-D3; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000386499,PRR35,571,Proline-rich protein 35; Proline rich 35. 9606.ENSP00000386502,ANKRD61,418,Ankyrin repeat domain 61. 9606.ENSP00000386503,CCDC141,652,Coiled-coil domain-containing protein 141; Plays a critical role in radial migration and centrosomal function. 9606.ENSP00000386520,RAD54L2,1467,Helicase ARIP4; DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity); Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000386531,SMPD4,866,Sphingomyelin phosphodiesterase 4; Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. May sensitize cells to DNA damage-induced apoptosis. 9606.ENSP00000386532,ASB18,466,Ankyrin repeat and SOCS box protein 18; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000386538,TBC1D10B,808,"TBC1 domain family member 10B; Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A." 9606.ENSP00000386541,PSMD14,310,"26S proteasome non-ATPase regulatory subunit 14; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. The PSMD14 subunit is a metalloprotease that specifically cle [...] " 9606.ENSP00000386543,PREPL,727,Prolyl endopeptidase-like; Serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex. May play a role in the regulation of synaptic vesicle exocytosis. 9606.ENSP00000386557,FAM174C,132,Protein FAM174C; Family with sequence similarity 174 member C. 9606.ENSP00000386559,CD8A,235,"T-cell surface glycoprotein CD8 alpha chain; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Sr [...] " 9606.ENSP00000386563,MORN2,79,MORN repeat-containing protein 2; Might have a role in spermatogenesis. 9606.ENSP00000386588,RGPD3,1758,RANBP2 like and GRIP domain containing 3. 9606.ENSP00000386593,PBRM1,1634,Protein polybromo-1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation. 9606.ENSP00000386597,DPAGT1,408,"UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase; Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol." 9606.ENSP00000386607,VSTM5,200,"V-set and transmembrane domain-containing protein 5; Cell adhesion-like membrane protein of the central nervous system (CNS) which modulates both the position and complexity of central neurons by altering their membrane morphology and dynamics. Involved in the formation of neuronal dendrites and protrusions including dendritic filopodia. In synaptogenesis, regulates synapse formation by altering dendritic spine morphology and actin distribution. Promotes formation of unstable neuronal spines such as thin and branched types. Regulates neuronal morphogenesis and migration during cortical [...] " 9606.ENSP00000386609,WDR81,1941,"WD repeat-containing protein 81; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3- phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport. It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome. May also play a role in aggrephagy, the macroautophagic [...] " 9606.ENSP00000386616,ZC3H12D,527,Probable ribonuclease ZC3H12D; May regulate cell growth likely by suppressing RB1 phosphorylation. May function as RNase and regulate the levels of target RNA species (Potential). In association with ZC3H12A enhances the degradation of interleukin IL-6 mRNA level in activated macrophages. Serve as a tumor suppressor in certain leukemia cells. Overexpression inhibits the G1 to S phase progression through suppression of RB1 phosphorylation. 9606.ENSP00000386636,SSB,408,"Lupus La protein; Binds to the 3' poly(U) terminus of nascent RNA polymerase III transcripts, protecting them from exonuclease digestion and facilitating their folding and maturation. In case of Coxsackievirus B3 infection, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES- mediated translation." 9606.ENSP00000386651,MCFD2,146,Multiple coagulation factor deficiency protein 2; The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. 9606.ENSP00000386653,PCDH20-2,951,Protocadherin-20; Potential calcium-dependent cell-adhesion protein. 9606.ENSP00000386655,RPL36A-HNRNPH2,118,RPL36A-HNRNPH2 readthrough; Belongs to the eukaryotic ribosomal protein eL42 family. 9606.ENSP00000386660,KDM3A,1321,"Lysine-specific demethylase 3A; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9' residue, with a preference for dimethylated residue, while it has weak or no activity on trimethylated H3 'Lys-9'. Demethylation of Lys residue generates formaldehyde and succinate. Involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes, resulting in H3 'Lys-9' demethylation and transcriptional activation. [...] " 9606.ENSP00000386702,MYADML2,307,Myeloid-associated differentiation marker-like protein 2; Myeloid associated differentiation marker like 2. 9606.ENSP00000386710,ATG9A,839,"Autophagy-related protein 9A; Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Cycles between a juxta-nuclear trans-Golgi network compartment and late endosomes. Nutrient starvation induces accumulation on autophagosomes. Starvation-dependent trafficking requires ULK1, ATG13 and SUPT20H. Belongs to the ATG9 family." 9606.ENSP00000386711,JAKMIP1,831,Janus kinase and microtubule-interacting protein 1; Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements. Belongs to the JAKMIP family. 9606.ENSP00000386717,RPL31,128,Ribosomal protein L31. 9606.ENSP00000386722,FCHSD2,740,"F-BAR and double SH3 domains protein 2; Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor. Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling. Recruited to clathrin-coated pits during a mid-to- late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits. Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate [...] " 9606.ENSP00000386738,KCMF1,381,E3 ubiquitin-protein ligase KCMF1; Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination; Belongs to the KCMF1 family. 9606.ENSP00000386741,CHN1,459,N-chimaerin; GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance. 9606.ENSP00000386759,SETD2,2564,"Histone-lysine N-methyltransferase SETD2; Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair [...] " 9606.ENSP00000386764,ZC3H6,1189,Zinc finger CCCH-type containing 6. 9606.ENSP00000386766,SLC39A10,831,Zinc transporter ZIP10; May act as a zinc-influx transporter. Belongs to the ZIP transporter (TC 2.A.5) family. 9606.ENSP00000386772,GPATCH11,285,G-patch domain containing 11. 9606.ENSP00000386786,POTEF,1075,POTE ankyrin domain family member F; In the C-terminal section; belongs to the actin family. 9606.ENSP00000386787,TMEM131L,1610,Transmembrane protein 131-like; [Isoform 1]: Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation. 9606.ENSP00000386791,FAM243A,251,Protein FAM243A; Family with sequence similarity 243 member A; Belongs to the FAM243 family. 9606.ENSP00000386804,SNORC,121,Protein SNORC; Plays a role in the regulation of chondrocyte maturation and postnatal endochondral ossification. May inhibit cell growth stimulation induced by FGF2. 9606.ENSP00000386807,C4orf48,128,Neuropeptide-like protein C4orf48; Chromosome 4 open reading frame 48. 9606.ENSP00000386810,RGPD4,1758,RANBP2 like and GRIP domain containing 4. 9606.ENSP00000386830,MARCHF7,704,E3 ubiquitin-protein ligase MARCHF7; E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in T-cell proliferation by regulating LIF secretion (By similarity). May play a role in lysosome homeostasis. 9606.ENSP00000386834,AFF3,1251,"AF4/FMR2 family member 3; Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double- stranded DNA; Belongs to the AF4 family." 9606.ENSP00000386840,XIRP2,3549,Xin actin-binding repeat-containing protein 2; Protects actin filaments from depolymerization. Belongs to the Xin family. 9606.ENSP00000386845,ZNF385B,486,Zinc finger protein 385B; May play a role in p53/TP53-mediated apoptosis. 9606.ENSP00000386856,TBC1D8,1155,TBC1 domain family member 8; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000386857,ACTG2,376,"Actin, gamma-enteric smooth muscle, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells; Belongs to the actin family." 9606.ENSP00000386862,SH3BP4,963,"SH3 domain-binding protein 4; May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy." 9606.ENSP00000386869,TET3,1795,"Methylcytosine dioxygenase TET3; Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5- carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate [...] " 9606.ENSP00000386870,DCDC2B,349,Doublecortin domain containing 2B. 9606.ENSP00000386880,COPS7B,278,"COP9 signalosome complex subunit 7b; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-de [...] " 9606.ENSP00000386881,DYSF,2119,Dysferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity); Belongs to the ferlin family. 9606.ENSP00000386884,CXCR4,356,"C-X-C chemokine receptor type 4; Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Involved in the AKT signaling cascade. Plays a role in regulation of cell migration, e.g. during wound healing. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes. Involved in hematopoiesis and in car [...] " 9606.ENSP00000386892,FHL2,279,Four and a half LIM domains protein 2; May function as a molecular transmitter linking various signaling pathways to transcriptional regulation. Negatively regulates the transcriptional repressor E4F1 and may function in cell growth. Inhibits the transcriptional activity of FOXO1 and its apoptotic function by enhancing the interaction of FOXO1 with SIRT1 and FOXO1 deacetylation. Negatively regulates the calcineurin/NFAT signaling pathway in cardiomyocytes. 9606.ENSP00000386894,RBM4,364,RNA-binding protein 4; RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5'-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational activation [...] 9606.ENSP00000386895,FAM124B,455,Protein FAM124B; Family with sequence similarity 124 member B; Belongs to the FAM124 family. 9606.ENSP00000386896,ITGA6,1091,Integrin alpha-6 heavy chain; Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling. ITGA6:ITGB4 binds t [...] 9606.ENSP00000386902,PTGES3L,161,Putative protein PTGES3L; Prostaglandin E synthase 3 like. 9606.ENSP00000386908,MEGF11,1044,"Multiple epidermal growth factor-like domains protein 11; May regulate the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (By similarity); Belongs to the MEGF family." 9606.ENSP00000386911,ARHGAP25,646,Rho GTPase-activating protein 25; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000386918,KDELR3,220,ER lumen protein-retaining receptor 3; Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Belongs to the ERD2 family. 9606.ENSP00000386921,TBC1D14,693,"TBC1 domain family member 14; Plays a role in the regulation of starvation-induced autophagosome formation. Together with the TRAPPIII complex, regulates a constitutive trafficking step from peripheral recycling endosomes to the early Golgi, maintaining the cycling pool of ATG9 required for initiation of autophagy." 9606.ENSP00000386923,LYG1,194,Lysozyme g1. 9606.ENSP00000386935,UAP1L1,507,UDP-N-acetylhexosamine pyrophosphorylase-like protein 1; UDP-N-acetylglucosamine pyrophosphorylase 1 like 1. 9606.ENSP00000386942,ST6GAL2,529,"Beta-galactoside alpha-2,6-sialyltransferase 2; Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. Has alpha-2,6- sialyltransferase activity toward oligosaccharides that have the Gal- beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids; Belongs to the glycosyltransferase 29 family." 9606.ENSP00000386959,CAPS2,557,Calcyphosin-2; Calcyphosine 2. 9606.ENSP00000386962,CATSPERG,1159,Cation channel sperm-associated protein subunit gamma; Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. 9606.ENSP00000386988,CC2D2B,401,Protein CC2D2B; Coiled-coil and C2 domain containing 2B. 9606.ENSP00000386992,IPO11,1015,"Importin-11; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] " 9606.ENSP00000387006,CWC22,908,"Pre-mRNA-splicing factor CWC22 homolog; Required for pre-mRNA splicing as component of the spliceosome. Promotes exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay. Belongs to the CWC22 family." 9606.ENSP00000387007,NCAPG2,1156,"Condensin-2 complex subunit G2; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis." 9606.ENSP00000387010,R3HDM1,1100,R3H domain containing 1. 9606.ENSP00000387020,ARHGEF33,870,Rho guanine nucleotide exchange factor 33; May act as a guanine-nucleotide releasing factor. 9606.ENSP00000387027,C5orf52,159,Uncharacterized protein C5orf52; Chromosome 5 open reading frame 52. 9606.ENSP00000387046,PPM1M,247,"Protein phosphatase, Mg2+/Mn2+ dependent 1M." 9606.ENSP00000387050,PLD3,490,"5'-3' exonuclease PLD3; 5'->3' DNA exonuclease which digests single-stranded DNA (ssDNA). Regulates inflammatory cytokine responses via the degradation of nucleic acids, by reducing the concentration of ssDNA able to stimulate TLR9, a nucleotide-sensing receptor in collaboration with PLD4 (By similarity). May be important in myotube formation. Plays a role in lysosomal homeostasis. Involved in the regulation of endosomal protein sorting." 9606.ENSP00000387075,TRABD2A,505,"Metalloprotease TIKI1; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation." 9606.ENSP00000387077,LYPD6B,207,"Ly6/PLAUR domain-containing protein 6B; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro acts on nAChRs in a subtype- and stoichiometry-dependent manner. Modulates specifically alpha-3(3):beta- 4(2) nAChRs by enhancing the sensitivity to ACh, decreasing ACh-induced maximal current response and increasing the rate of desensitization to ACh; has no effect on alpha-7 homomeric nAChRs; modulates alpha- 3(2):alpha-5:beta-4(2) nAChRs in the context of CHRNA5/alpha-5 variant Asn-398 but not its wild-type sequence." 9606.ENSP00000387078,WDSUB1,476,"WD repeat, sterile alpha motif and U-box domain containing 1." 9606.ENSP00000387091,ZNF365,462,"Protein ZNF365; Involved in the regulation of neurogenesis. Negatively regulates neurite outgrowth. Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand breaks (DSBs) b [...] " 9606.ENSP00000387100,TPRN,711,Taperin. 9606.ENSP00000387111,ENSP00000387111,131,Novel LIPT1-MRPL30 readthrough. 9606.ENSP00000387122,CLEC16A,1053,"Protein CLEC16A; Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health; Belongs to the CLEC16A/gop-1 family." 9606.ENSP00000387123,ALDH7A1,539,"Alpha-aminoadipic semialdehyde dehydrogenase; Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism; Belongs to the aldehyde dehydrogenase family." 9606.ENSP00000387124,C2orf78,922,Uncharacterized protein C2orf78; Chromosome 2 open reading frame 78. 9606.ENSP00000387128,NCKAP5,1909,NCK associated protein 5. 9606.ENSP00000387145,THSD7B,1606,Thrombospondin type-1 domain-containing protein 7B; Thrombospondin type 1 domain containing 7B. 9606.ENSP00000387146,UNC50,276,Protein unc-50 homolog; May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity). 9606.ENSP00000387159,NPPC,126,C-type natriuretic peptide; Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation. May also be vasoactive and natriuretic. Specifically binds and stimulates the cGMP production of the NPR2 receptor. Binds the clearance receptor NPR3 (By similarity). 9606.ENSP00000387164,CPVL,476,"Probable serine carboxypeptidase CPVL; May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation; Belongs to the peptidase S10 family." 9606.ENSP00000387170,GIGYF2,1320,"GRB10-interacting GYF protein 2; Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation. In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors ; Belongs to the GIGYF family." 9606.ENSP00000387176,POTEJ,1038,POTE ankyrin domain family member J; In the N-terminal section; belongs to the POTE family. 9606.ENSP00000387180,PTRH2,180,"Peptidyl-tRNA hydrolase 2, mitochondrial; The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis; Belongs to the PTH2 family." 9606.ENSP00000387185,PGGHG,737,Protein-glucosylgalactosylhydroxylysine glucosidase; Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins. 9606.ENSP00000387187,SERF2,170,"Small EDRK-rich factor 2; Positive regulator of amyloid protein aggregation and proteotoxicity. Induces conformational changes in amyloid proteins, such as HTT, driving them into compact formations preceding the formation of aggregates. Belongs to the SERF family." 9606.ENSP00000387209,CEP19,167,"Centrosomal protein of 19 kDa; Required for ciliation. Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP- bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia. Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes." 9606.ENSP00000387211,IL18R1,541,"Interleukin-18 receptor 1; Within the IL18 receptor complex, responsible for the binding of the proinflammatory cytokine IL18, but not IL1A nor IL1B. Involved in IL18-mediated IFNG synthesis from T-helper 1 (Th1) cells. Contributes to IL18-induced cytokine production, either independently of SLC12A3, or as a complex with SLC12A3 (By similarity)." 9606.ENSP00000387219,NFU1,254,"NFU1 iron-sulfur cluster scaffold homolog, mitochondrial; Iron-sulfur cluster scaffold protein which can assemble [4Fe- 4S] clusters and deliver them to target proteins. Belongs to the NifU family." 9606.ENSP00000387228,LRRTM4,591,"Leucine-rich repeat transmembrane neuronal protein 4; May play a role in the development and maintenance of the vertebrate nervous system. Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation (By similarity)." 9606.ENSP00000387229,RABL2A,238,"Rab-like protein 2A; Plays an essential role in male fertility, sperm intra- flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail." 9606.ENSP00000387239,GALNT13,561,"Polypeptide N-acetylgalactosaminyltransferase 13; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a much stronger activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May be responsible for the synthesis of Tn antigen in neuronal cells; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000387246,MAP3K2,619,Mitogen-activated protein kinase kinase kinase 2; Component of a protein kinase signal transduction cascade. Regulates the JNK and ERK5 pathways by phosphorylating and activating MAP2K5 and MAP2K7 (By similarity). Plays a role in caveolae kiss-and- run dynamics. 9606.ENSP00000387250,PCDH20,951,Protocadherin 20. 9606.ENSP00000387261,PSTPIP2,334,Proline-serine-threonine phosphatase-interacting protein 2; Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity). 9606.ENSP00000387262,IMMT,758,"MICOS complex subunit MIC60; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology." 9606.ENSP00000387266,SPIRE1,756,"Protein spire homolog 1; Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning and asymmetric cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis. Also acts in the nucleus: together with FMN2, promotes assembly of nuclear actin filaments in respons [...] " 9606.ENSP00000387278,MPP4,637,MAGUK p55 subfamily member 4; May play a role in retinal photoreceptors development. 9606.ENSP00000387282,AGFG1,584,"Arf-GAP domain and FG repeat-containing protein 1; Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication." 9606.ENSP00000387286,RAB1A,205,"Ras-related protein Rab-1A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secreti [...] " 9606.ENSP00000387292,TMEM150A,271,"Transmembrane protein 150A; Regulates localization of phosphatidylinositol 4-kinase (PI4K) to the plasma membrane, possibly by reducing the association of TTC7 (TTC7A or TTC7B) with the PI4K complex. Acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. May also play a role in fasting-induced catabolism (By similarity)." 9606.ENSP00000387298,ERICH2,156,Glutamate-rich protein 2; Glutamate rich 2. 9606.ENSP00000387303,TDRD9,1382,"ATP-dependent RNA helicase TDRD9; ATP-binding RNA helicase required during spermatogenesis. Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for transposon silencing in the nucleus, suggesting that it acts as a nuclear effecto [...] " 9606.ENSP00000387307,RAB6C,254,Ras-related protein Rab-6C; May be involved in the regulation of centrosome duplication and cell cycle progression. 9606.ENSP00000387310,NOTUM,496,Palmitoleoyl-protein carboxylesterase NOTUM; Carboxylesterase that acts as a key negative regulator of the Wnt signaling pathway by specifically mediating depalmitoleoylation of WNT proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors. 9606.ENSP00000387334,NLRX1,975,"NLR family member X1; Participates in antiviral signaling. Acts as a negative regulator of MAVS-mediated antiviral responses, through the inhibition of the virus-induced RLH (RIG-like helicase)-MAVS interaction. Instead, promotes autophagy by interacting with TUFM and subsequently recruiting the autophagy-related proteins ATG5 and ATG12. Regulates also MAVS-dependent NLRP3 inflammasome activation to attenuate apoptosis. Has no inhibitory function on NF-kappa-B signaling pathway, but enhances NF-kappa-B and JUN N-terminal kinase dependent signaling through the production of reactive oxy [...] " 9606.ENSP00000387356,ACAN,2530,Aggrecan core protein 2; This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region. 9606.ENSP00000387362,UBE4A,1073,Ubiquitin conjugation factor E4 A; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates. 9606.ENSP00000387365,PWP1,501,"Periodic tryptophan protein 1 homolog; Chromatin-associated factor that regulates transcription. Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription. Regulates the epigenetic status of rDNA." 9606.ENSP00000387380,NECAB1,351,N-terminal EF-hand calcium binding protein 1. 9606.ENSP00000387393,KANSL1,1105,KAT8 regulatory NSL complex subunit 1; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. 9606.ENSP00000387435,ARTN,228,"Artemin; Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue." 9606.ENSP00000387462,ZBTB10,871,Zinc finger and BTB domain-containing protein 10; May be involved in transcriptional regulation. 9606.ENSP00000387471,CIAO2B,163,"Cytosolic iron-sulfur assembly component 2B; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. As a CIA complex component and in collaboration with CIAO1 and MMS19, binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD. Belongs to the MIP18 family." 9606.ENSP00000387498,FUT2,343,"Galactoside 2-alpha-L-fucosyltransferase 2; Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids. The resulting epitope plays a role in cell-cell interaction including host-microbe interaction. Mediates interaction with intestinal microbiota influencing its composition. Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway." 9606.ENSP00000387523,OR7E24,339,Olfactory receptor 7E24; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000387535,IRGQ,623,Immunity-related GTPase family Q protein; Immunity related GTPase Q; Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family. 9606.ENSP00000387549,SLC18A1,525,"Chromaffin granule amine transporter; Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells." 9606.ENSP00000387593,TANC2,1990,Protein TANC2; Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines. 9606.ENSP00000387617,SMCO2,343,Single-pass membrane protein with coiled-coil domains 2. 9606.ENSP00000387641,CAND2,1236,"Cullin-associated NEDD8-dissociated protein 2; Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate- recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes; Belongs to the CAND family." 9606.ENSP00000387654,PCYOX1,505,"Prenylcysteine oxidase 1; Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine." 9606.ENSP00000387662,GCG,180,"Glicentin-related polypeptide; Glucagon plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes. GLP-2 stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, fro [...] " 9606.ENSP00000387683,UGT2B11,529,UDP-glucuronosyltransferase 2B11; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds; Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000387694,SLC12A5,1139,"Solute carrier family 12 member 5; Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation." 9606.ENSP00000387699,CREB1,341,"Cyclic AMP-responsive element-binding protein 1; Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells; Belongs to the bZIP family." 9606.ENSP00000387710,TARS1,756,"Threonine--tRNA ligase 1, cytoplasmic; Catalyzes the attachment of threonine to tRNA(Thr) in a two- step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity); Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000387739,AMOTL1,956,"Angiomotin-like protein 1; Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus; Belongs to the angiomotin family." 9606.ENSP00000387757,HIC2,615,Hypermethylated in cancer 2 protein; Transcriptional repressor. 9606.ENSP00000387822,BRDT,951,"Bromodomain testis-specific protein; Testis-specific chromatin protein that specifically binds histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis. Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time. In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA. Also re [...] " 9606.ENSP00000387875,KIF4B,1234,"Chromosome-associated kinesin KIF4B; Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity)." 9606.ENSP00000387882,TC2N,490,"Tandem C2 domains, nuclear." 9606.ENSP00000387911,PARN,639,"Poly(A)-specific ribonuclease PARN; 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. Interacts with both the 3'-end poly(A) tail and the 5'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsens [...] " 9606.ENSP00000387941,IFFO2,517,Intermediate filament family orphan 2; Belongs to the intermediate filament family. 9606.ENSP00000387982,WDR73,378,WD repeat-containing protein 73; May play a role in the regulation of microtubule organization and dynamics. 9606.ENSP00000387996,CSTF2,597,Cleavage stimulation factor subunit 2; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs (By similarity). 9606.ENSP00000388001,OAS1,414,"2'-5'-oligoadenylate synthase 1; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition [...] " 9606.ENSP00000388094,KRBOX1,128,KRAB box domain containing 1. 9606.ENSP00000388107,UBA52,128,"Ubiquitin-60S ribosomal protein L40; [Ubiquitin]: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be in [...] " 9606.ENSP00000388137,MPPED1,326,Metallophosphoesterase domain-containing protein 1; May have metallophosphoesterase activity (in vitro). 9606.ENSP00000388169,ARPC4,187,"Actin-related protein 2/3 complex subunit 4; Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in r [...] " 9606.ENSP00000388183,OGDH,1034,"2-oxoglutarate dehydrogenase, mitochondrial; 2-oxoglutarate dehydrogenase (E1) component of the 2- oxoglutarate dehydrogenase complex, which mediates the decarboxylation of alpha-ketoglutarate. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2- oxoglutarate to succinyl-CoA and CO(2). The 2- oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-C [...] " 9606.ENSP00000388207,RNF148,305,Ring finger protein 148. 9606.ENSP00000388241,KIF26A,1882,"Kinesin-like protein KIF26A; Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF26 subfamily." 9606.ENSP00000388275,AGBL3,920,Cytosolic carboxypeptidase 3; Metallocarboxypeptidase that mediates both deglutamylation and deaspartylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene- encoded polyglutamates or polyaspartates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin. 9606.ENSP00000388293,TSTD1,115,"Thiosulfate:glutathione sulfurtransferase; Thiosulfate:glutathione sulfurtransferase (TST) required to produce S-sulfanylglutathione (GSS(-)), a central intermediate in hydrogen sulfide metabolism. Provides the link between the first step in mammalian H(2)S metabolism performed by the sulfide:quinone oxidoreductase (SQOR) which catalyzes the conversion of H(2)S to thiosulfate, and the sulfur dioxygenase (SDO) which uses GSS(-) as substrate. The thermodynamic coupling of the irreversible SDO and reversible TST reactions provides a model for the physiologically relevant reaction with thi [...] " 9606.ENSP00000388299,TRIM49C,452,Tripartite motif containing 49C. 9606.ENSP00000388311,ZNF845,970,Zinc finger protein 845; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000388337,SEC61G,68,Protein transport protein Sec61 subunit gamma; Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER); Belongs to the SecE/SEC61-gamma family. 9606.ENSP00000388431,TMEM251,169,Transmembrane protein 251; Belongs to the TMEM251 family. 9606.ENSP00000388502,ZNF583,569,Zinc finger protein 583; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000388510,RARG,454,"Retinoic acid receptor gamma; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal [...] " 9606.ENSP00000388550,RNF24,169,RING finger protein 24; May play a role in TRPCs intracellular trafficking. 9606.ENSP00000388552,RBM14-RBM4,339,RBM14-RBM4 readthrough. 9606.ENSP00000388566,CASP4,377,"Caspase-4 subunit 1; Inflammatory caspase. Essential effector of NLRP3 inflammasome-dependent CASP1 activation and IL1B and IL18 secretion in response to non- canonical activators, such as UVB radiation, cholera enterotoxin subunit B and cytosolic LPS. Independently of NLRP3 inflammasome and CASP1, promotes pyroptosis, through GSDMD cleavage and activation, and IL1A, IL18 and HMGB1 release in response to non-canonical inflammasome activators. Plays a crucial role in the restriction of Salmonella typhimurium replication in colonic epithelial cells during infection. In later stages of th [...] " 9606.ENSP00000388620,EOMES,705,"Eomesodermin homolog; Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes." 9606.ENSP00000388631,PLCD4,762,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4; Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration [...] " 9606.ENSP00000388638,RBM17,401,Splicing factor 45; Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia. 9606.ENSP00000388658,SLC25A12,678,Calcium-binding mitochondrial carrier protein Aralar1; Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. 9606.ENSP00000388684,TMEM247,219,Transmembrane protein 247. 9606.ENSP00000388713,LANCL1,399,"Glutathione S-transferase LANCL1; Functions as glutathione transferase. Catalyzes conjugation of the glutathione (GSH) to artificial substrates 1-chloro-2,4- dinitrobenzene (CDNB) and p-nitrophenyl acetate. Mitigates neuronal oxidative stress during normal postnatal development and in response to oxidative stresses probably through GSH antioxidant defense mechanism (By similarity). May play a role in EPS8 signaling. Binds glutathione." 9606.ENSP00000388723,KBTBD13,458,Kelch repeat and BTB domain-containing protein 13; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. 9606.ENSP00000388731,ITPRID2,1259,Protein ITPRID2; ITPR interacting domain containing 2. 9606.ENSP00000388744,RRAD,308,GTP-binding protein RAD; May play an important role in cardiac antiarrhythmia via the strong suppression of voltage-gated L-type Ca(2+) currents. Regulates voltage-dependent L-type calcium channel subunit alpha-1C trafficking to the cell membrane (By similarity). Inhibits cardiac hypertrophy through the calmodulin-dependent kinase II (CaMKII) pathway. Inhibits phosphorylation and activation of CAMK2D; Belongs to the small GTPase superfamily. RGK family. 9606.ENSP00000388792,ZNF683,524,"Tissue-resident T-cell transcription regulator protein ZNF683; Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T-cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue- resident lymphocyte T cell types in non-lymphoid org [...] " 9606.ENSP00000388806,EIF4B,616,Eukaryotic translation initiation factor 4B; Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'-terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F. 9606.ENSP00000388823,NSG1,185,"Neuronal vesicle trafficking-associated protein 1; Plays a role in the recycling mechanism in neurons of multiple receptors, including AMPAR, APP and L1CAM and acts at the level of early endosomes to promote sorting of receptors toward a recycling pathway. Regulates sorting and recycling of GRIA2 through interaction with GRIP1 and then contributes to the regulation of synaptic transmission and plasticity by affecting the recycling and targeting of AMPA receptors to the synapse (By similarity). Is required for faithful sorting of L1CAM to axons by facilitating trafficking from somatoden [...] " 9606.ENSP00000388825,MLN,115,Motilin-associated peptide; Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle. 9606.ENSP00000388850,PNMA5,448,Paraneoplastic antigen-like protein 5; PNMA family member 5; Belongs to the PNMA family. 9606.ENSP00000388864,ZNF419,511,Zinc finger protein 419; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000388895,SPATA3,192,Spermatogenesis-associated protein 3; Spermatogenesis associated 3. 9606.ENSP00000388909,CYBC1,187,Cytochrome b-245 chaperone 1; Necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer. Controls the phagocyte respiratory burst and is essential for innate immunity. 9606.ENSP00000388910,NFATC4,964,"Nuclear factor of activated T-cells, cytoplasmic 4; Ca(2+)-regulated transcription factor that is involved in several processes, including the development and function of the immune, cardiovascular, musculoskeletal, and nervous systems. Involved in T-cell activation, stimulating the transcription of cytokine genes, including that of IL2 and IL4. Along with NFATC3, involved in embryonic heart development. Involved in mitochondrial energy metabolism required for cardiac morphogenesis and function (By similarity). Transactivates many genes involved in the cardiovascular system, including [...] " 9606.ENSP00000388920,RWDD4,188,RWD domain containing 4. 9606.ENSP00000388940,TCF12,706,Transcription factor 12; Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). 9606.ENSP00000388942,SCRN1,434,Secernin-1; Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity). 9606.ENSP00000388996,AP1M1,435,AP-1 complex subunit mu-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. 9606.ENSP00000389009,CARNS1,950,Carnosine synthase 1; Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine. 9606.ENSP00000389014,CPLANE1,3197,Ciliogenesis and planar polarity effector 1; Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT- A proteins to basal bodies (By similarity). 9606.ENSP00000389015,SBK2,348,Serine/threonine-protein kinase SBK2; SH3 domain binding kinase family member 2; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. 9606.ENSP00000389026,CRISP3,268,Cysteine rich secretory protein 3; Belongs to the CRISP family. 9606.ENSP00000389060,MMADHC,296,"Methylmalonic aciduria and homocystinuria type D protein, mitochondrial; Involved in cobalamin metabolism. Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin. Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin. Promotes oxidation of cob(II)alamin bound to MMACHC." 9606.ENSP00000389072,OR10G8,311,Olfactory receptor 10G8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000389095,CYTH1,398,"Cytohesin-1; Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity." 9606.ENSP00000389103,RPL23A,156,"60S ribosomal protein L23a; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds a specific region on the 26S rRNA. May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination ; Belongs to the universal ribosomal protein uL23 family." 9606.ENSP00000389111,FNDC10,226,Fibronectin type III domain containing 10. 9606.ENSP00000389140,DCC,1447,Netrin receptor DCC; Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene. 9606.ENSP00000389160,NDUFA11,228,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000389168,PPP1R12A,1030,"Protein phosphatase 1 regulatory subunit 12A; Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity." 9606.ENSP00000389175,GLYCTK,523,Glycerate kinase; Belongs to the glycerate kinase type-2 family. 9606.ENSP00000389176,C1GALT1,363,"Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1; Glycosyltransferase that generates the core 1 O-glycan Gal- beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development; Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily." 9606.ENSP00000389182,RPP30,322,"Ribonuclease P protein subunit p30; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences." 9606.ENSP00000389237,NBPF4,638,Neuroblastoma breakpoint family member 4; NBPF member 4. 9606.ENSP00000389241,DHRS9,379,Dehydrogenase/reductase SDR family member 9; 3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha- tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone. Plays also a role in the biosynthesis of retinoic acid from retinaldehyde. Can utilize both NADH and NADPH. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000389252,NPNT,595,"Nephronectin; Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha- 8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity)." 9606.ENSP00000389255,HCAR1,346,Hydroxycarboxylic acid receptor 1; Acts as a receptor for L-lactate and mediates its anti- lipolytic effect through a G(i)-protein-mediated pathway. 9606.ENSP00000389275,NPIPA9,369,"Nuclear pore complex interacting protein family, member A9." 9606.ENSP00000389277,TMBIM6,295,"Bax inhibitor 1; Suppressor of apoptosis. Modulates unfolded protein response signaling. Modulates ER calcium homeostasis by acting as a calcium-leak channel. Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity)." 9606.ENSP00000389289,AKR1B15,344,"Aldo-keto reductase family 1 member B15; [Isoform 1]: Catalyzes the NADPH-dependent reduction of a variety of carbonyl substrates, like aromatic aldehydes, alkenals, ketones and alpha-dicarbonyl compounds. In addition, catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta- hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs. Displays strong enzymatic activity toward all-trans- retinal and 9-cis-retinal. May play a physiological role in retinoid metabolism." 9606.ENSP00000389297,CHCHD3,232,"MICOS complex subunit MIC19; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology." 9606.ENSP00000389300,DAZ4,390,Deleted in azoospermia 4. 9606.ENSP00000389326,ACE2,805,"Processed angiotensin-converting enzyme 2; Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin-13 and dynorphin-13 with high efficiency. By cleavage of angiotensin II, may be an important regulator of heart function. By cleavage of angiotensin II, may also have a protective role in acute lung injury (By similarity). Plays an important role in amino acid transport by acting as binding partner of amino acid transporter SL6A19 in intestine, regulating traffickin [...] " 9606.ENSP00000389351,RPSA,300,40S ribosomal protein SA; Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA- precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Acts as a PPP1R16B-dependent substrate of PPP1CA. (Microbial infection) Acts as a receptor for the Dengue virus [...] 9606.ENSP00000389356,RPL39L,51,Ribosomal protein L39 like; Belongs to the eukaryotic ribosomal protein eL39 family. 9606.ENSP00000389377,NFATC1,943,"Nuclear factor of activated T-cells, cytoplasmic 1; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells. Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity)." 9606.ENSP00000389381,YY2,372,Transcription factor YY2; Functions as a multifunctional transcription factor that may exhibit positive and negative control on a large number of genes. May antagonize YY1 and function in development and differentiation. 9606.ENSP00000389383,STK11IP,1088,Serine/threonine-protein kinase 11-interacting protein; May regulate STK11/LKB1 function by controlling its subcellular localization. 9606.ENSP00000389395,GPAT2,795,"Glycerol-3-phosphate acyltransferase 2, mitochondrial; Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity. Belongs to the GPAT/DAPAT family." 9606.ENSP00000389399,TMCO3,677,Transmembrane and coiled-coil domain-containing protein 3; Probable Na(+)/H(+) antiporter; Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family. 9606.ENSP00000389414,TBXAS1,580,Thromboxane A synthase 1; Belongs to the cytochrome P450 family. 9606.ENSP00000389427,CEP44,399,Centrosomal protein 44. 9606.ENSP00000389443,USP17L12,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 12; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000389445,UBAP2L,1087,Ubiquitin-associated protein 2-like; Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs). 9606.ENSP00000389466,TGM7,710,Protein-glutamine gamma-glutamyltransferase Z; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins; Belongs to the transglutaminase superfamily. Transglutaminase family. 9606.ENSP00000389513,CT47A4,288,Cancer/testis antigen family 47 member A4. 9606.ENSP00000389554,C2CD4D,353,C2 calcium-dependent domain-containing protein 4D; C2 calcium dependent domain containing 4D. 9606.ENSP00000389588,SEMA5B,1205,Semaphorin-5B; May act as positive axonal guidance cues. 9606.ENSP00000389600,TLR6,796,"Toll-like receptor 6; Participates in the innate immune response to Gram-positive bacteria and fungi. Specifically recognizes diacylated and, to a lesser extent, triacylated lipopeptides. In response to diacylated lipopeptides, forms the activation cluster TLR2:TLR6:CD14:CD36, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), so [...] " 9606.ENSP00000389630,DPY19L4,723,Probable C-mannosyltransferase DPY19L4; Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins. 9606.ENSP00000389631,ARPC1B,372,"Actin-related protein 2/3 complex subunit 1B; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in response to DN [...] " 9606.ENSP00000389649,ATP5PF,116,"ATP synthase-coupling factor 6, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of t [...] " 9606.ENSP00000389709,RNF212,297,"Probable E3 SUMO-protein ligase RNF212; SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with [...] " 9606.ENSP00000389714,CTNNA3,895,Catenin alpha-3; May be involved in formation of stretch-resistant cell-cell adhesion complexes. 9606.ENSP00000389715,KSR2,921,"Kinase suppressor of Ras 2; Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Acts as MAP2K1/MEK1-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1. Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, [...] " 9606.ENSP00000389745,CYB561A3,263,Cytochrome b ascorbate-dependent protein 3; Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. Probably uses ascorbate as electron donor (By similarity). 9606.ENSP00000389760,CASTOR3,163,CASTOR family member 3; Belongs to the GATS family. 9606.ENSP00000389787,PLEKHF1,279,Pleckstrin homology domain-containing family F member 1; May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8. 9606.ENSP00000389810,DSN1,356,Kinetochore-associated protein DSN1 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. 9606.ENSP00000389813,ACAD10,1090,Acyl-CoA dehydrogenase family member 10; Acyl-CoA dehydrogenase only active with R- and S-2-methyl- C15-CoA. 9606.ENSP00000389814,ADIPOQ,244,"Adiponectin; Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis [...] " 9606.ENSP00000389841,ZNF852,543,Zinc finger protein 852; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000389870,DLX3,287,Homeobox protein DLX-3; Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis; Belongs to the distal-less homeobox family. 9606.ENSP00000389900,DCUN1D4,336,DCN1-like protein 4; Defective in cullin neddylation 1 domain containing 4. 9606.ENSP00000389903,LETMD1,373,LETM1 domain-containing protein 1; Involved in tumorigenesis and may function as a negative regulator of the p53/TP53. 9606.ENSP00000389910,RCBTB2,556,RCC1 and BTB domain containing protein 2. 9606.ENSP00000389913,PLEKHM1,1056,"Pleckstrin homology domain-containing family M member 1; Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion. Positively regulates lysosome peripheral distributi [...] " 9606.ENSP00000389948,NT5C3B,300,7-methylguanosine phosphate-specific 5'-nucleotidase; Specifically hydrolyzes 7-methylguanosine monophosphate (m(7)GMP) to 7-methylguanosine and inorganic phosphate. The specific activity for m(7)GMP may protect cells against undesired salvage of m(7)GMP and its incorporation into nucleic acids. Also has weak activity for CMP. UMP and purine nucleotides are poor substrates. 9606.ENSP00000389998,TMEM67,995,Meckelin; Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). 9606.ENSP00000390011,CTU1,348,"Cytoplasmic tRNA 2-thiolation protein 1; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position." 9606.ENSP00000390070,CT47A5,288,Cancer/testis antigen family 47 member A5. 9606.ENSP00000390076,ZSCAN31,406,Zinc finger and SCAN domain-containing protein 31; May function as a transcription factor. May be involved in the development of multiple embryonic organs; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000390084,SHISA6,551,Protein shisa-6; Involved in maintenance of high-frequency synaptic transmission at hippocampal CA3-CA1 synapses. Regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression. May play a role in self-renewal and differentiation of spermatogonial stem cells by inhibiting canonical Wnt signaling pathway. 9606.ENSP00000390111,PLSCR5,271,Phospholipid scramblase family member 5; Belongs to the phospholipid scramblase family. 9606.ENSP00000390158,HERC1,4861,"Probable E3 ubiquitin-protein ligase HERC1; Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates." 9606.ENSP00000390179,ZNF527,609,Zinc finger protein 527; May be involved in transcriptional regulation. 9606.ENSP00000390204,HEPACAM2,485,"HEPACAM family member 2; Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma- tubulin ring complex and promotes centrosome maturation." 9606.ENSP00000390232,ZBBX,839,Zinc finger B-box domain containing. 9606.ENSP00000390265,IDH1,414,Isocitrate dehydrogenase 1. 9606.ENSP00000390331,hCG_1984214,225,"HCG1984214, isoform CRA_a." 9606.ENSP00000390353,SPEGNB-2,343,SPEG neighbor protein. 9606.ENSP00000390394,SLC4A7,1259,Sodium bicarbonate cotransporter 3; Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity; Belongs to the anion exchanger (TC 2.A.31) family. 9606.ENSP00000390407,TMEM213,107,Transmembrane protein 213. 9606.ENSP00000390410,GPR141,305,Probable G-protein coupled receptor 141; Orphan receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000390423,CATSPER4,472,"Cation channel sperm-associated protein 4; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Belongs to the cation channel sperm-associated (TC 1.A.1.19) family." 9606.ENSP00000390436,GLI2,1586,Zinc finger protein GLI2; Functions as transcription regulator in the hedgehog (Hh) pathway. Functions as transcriptional activator. May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development. [Isoform 5]: Acts as a transcriptional repressor. 9606.ENSP00000390475,CXXC1,660,CXXC-type zinc finger protein 1; Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG. 9606.ENSP00000390513,HSPA14-2,143,Heat shock 70kDa protein 14 isoform 1 variant 3. 9606.ENSP00000390535,PRKD1,920,"Serine/threonine-protein kinase D1; Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signaling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory res [...] " 9606.ENSP00000390564,SLC16A5,505,"Monocarboxylate transporter 6; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family." 9606.ENSP00000390590,DDN,711,"Dendrin; Promotes apoptosis of kidney glomerular podocytes. Podocytes are highly specialized cells essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein (By similarity)." 9606.ENSP00000390600,SCN10A,1956,"Sodium channel protein type 10 subunit alpha; Tetrodotoxin-resistant channel that mediates the voltage- dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms." 9606.ENSP00000390613,BTNL2,482,Butyrophilin-like protein 2; Negative regulator of T-cell proliferation; Belongs to the immunoglobulin superfamily. BTN/MOG family. 9606.ENSP00000390621,TDRD12,395,"Putative ATP-dependent RNA helicase TDRD12; Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary [...] " 9606.ENSP00000390625,HNRNPLL,542,"Heterogeneous nuclear ribonucleoprotein L-like; RNA-binding protein that functions as regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC." 9606.ENSP00000390630,RIMBP3C,1639,"RIMS-binding protein 3C; Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development." 9606.ENSP00000390637,SLC14A1,445,"Urea transporter 1; Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across [...] " 9606.ENSP00000390647,C12orf65,166,"Probable peptide chain release factor C12orf65, mitochondrial; May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity)." 9606.ENSP00000390661,CLEC2L,214,C-type lectin domain family 2 member L. 9606.ENSP00000390722,SLC25A17,307,"Peroxisomal membrane protein PMP34; Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5'- phosphate and bathophenanthroline in vitro. Belongs to the mitochondrial carrie [...] " 9606.ENSP00000390783,SCFD1,642,Sec1 family domain-containing protein 1; Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity). 9606.ENSP00000390784,B3GALT4,378,"Beta-1,3-galactosyltransferase 4; Involved in GM1/GD1B/GA1 ganglioside biosynthesis." 9606.ENSP00000390932,LRRC23,343,Leucine-rich repeat-containing protein 23; Leucine rich repeat containing 23. 9606.ENSP00000390941,ATCAY,371,"Caytaxin; Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites." 9606.ENSP00000391085,GOLGA6D,693,Golgin A6 family member D; Belongs to the GOLGA6 family. 9606.ENSP00000391088,UNC80,3258,"Protein unc-80 homolog; Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN- dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium." 9606.ENSP00000391090,CHEK1,492,"Serine/threonine-protein kinase Chk1; Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at 'Ser-178' and 'Thr-507' and pho [...] " 9606.ENSP00000391101,SLFN14,912,C-terminally truncated SLFN14 endoribonuclease; [Protein SLFN14]: Shows no ribosome-associated and endoribonuclease activities; Belongs to the Schlafen family. Subgroup III subfamily. 9606.ENSP00000391121,RDH13,331,"Retinol dehydrogenase 13; Retinol dehydrogenase with a clear preference for NADP. Oxidizes all-trans-retinol, but seems to reduce all-trans-retinal with much higher efficiency. Has no activity toward steroids." 9606.ENSP00000391137,ASB10,467,Ankyrin repeat and SOCS box protein 10; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000391167,DENND4A,1906,"C-myc promoter-binding protein; Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. According to it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter." 9606.ENSP00000391200,ZNF692,524,Zinc finger protein 692; May be involved in transcriptional regulation. 9606.ENSP00000391209,CYB561D2,222,Cytochrome b561 domain-containing protein 2; Two-heme-containing cytochrome that catalyzes ascorbate- dependent trans-membrane ferric-chelate reduction. 9606.ENSP00000391211,PSMC2,433,"26S proteasome regulatory subunit 7; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with [...] " 9606.ENSP00000391227,MGAT5B,801,"Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B; Glycosyltransferase that acts on alpha-linked mannose of N- glycans and O-mannosyl glycans. Catalyzes the transfer of N- acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6- linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migrat [...] " 9606.ENSP00000391249,SEPTIN9,586,"Septin-9; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family." 9606.ENSP00000391269,RBFOX1,425,RNA binding protein fox-1 homolog 1; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. 9606.ENSP00000391299,SAMD7,446,Sterile alpha motif domain-containing protein 7; Involved in the regulation of gene expression in the retina. It functions as a negative regulator of CRX-controlled genes. 9606.ENSP00000391311,SEPTIN5,369,Septin-5; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. 9606.ENSP00000391318,CT47A12,288,Cancer/testis antigen family 47 member A12. 9606.ENSP00000391381,ATP6AP1L,224,V-type proton ATPase subunit S1-like protein; ATPase H+ transporting accessory protein 1 like. 9606.ENSP00000391404,C4orf51,202,Uncharacterized protein C4orf51; Chromosome 4 open reading frame 51. 9606.ENSP00000391409,CDHR4,788,Cadherin-related family member 4; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (By similarity). 9606.ENSP00000391457,INO80C,228,"INO80 complex subunit C; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair." 9606.ENSP00000391481,TKT,631,"Transketolase; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate; Belongs to the transketolase family." 9606.ENSP00000391488,PNMA6A,399,Paraneoplastic antigen-like protein 6A; PNMA family member 6A; Belongs to the PNMA family. 9606.ENSP00000391490,AGR2,175,"Anterior gradient protein 2 homolog; Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion." 9606.ENSP00000391498,KCNK16,322,Potassium channel subfamily K member 16; Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. 9606.ENSP00000391504,CCDC173,552,Coiled-coil domain containing 173. 9606.ENSP00000391524,DENND6B,585,"Protein DENND6B; Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35; Belongs to the DENND6 family." 9606.ENSP00000391549,SMIM19,107,Small integral membrane protein 19. 9606.ENSP00000391583,PARVG,331,Gamma-parvin; Probably plays a role in the regulation of cell adhesion and cytoskeleton organization; Belongs to the parvin family. 9606.ENSP00000391592,PTPN6,624,"Tyrosine-protein phosphatase non-receptor type 6; Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis." 9606.ENSP00000391594,ERV3-1,604,"Endogenous retrovirus group 3 member 1 Env polyprotein; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro. TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediate [...] " 9606.ENSP00000391596,AMDHD2,594,"N-acetylglucosamine-6-phosphate deacetylase; Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6- phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded; Belongs to the metallo-dependent hydrolases superfamily. NagA family." 9606.ENSP00000391601,PEX5,660,Peroxisomal targeting signal 1 receptor; Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 9606.ENSP00000391641,ZNF780B,833,Zinc finger protein 780B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000391668,MTMR11,709,Myotubularin related protein 11; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily. 9606.ENSP00000391669,BCAR1,916,Breast cancer anti-estrogen resistance protein 1; Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells. 9606.ENSP00000391692,CCDC103,242,Coiled-coil domain-containing protein 103; Dynein-attachment factor required for cilia motility. Belongs to the CCDC103/PR46b family. 9606.ENSP00000391723,PUM1,1188,"Pumilio homolog 1; Sequence-specific RNA-binding protein that acts as a post- transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'- UGUANAUA-3', that is related to the Nanos Response Element (NRE). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation-independent repression by promoting accessibility of miRNAs. Following growth [...] " 9606.ENSP00000391739,PISD,409,"Phosphatidylserine decarboxylase proenzyme, mitochondrial; Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine. Belongs to the phosphatidylserine decarboxylase family. PSD-B subfamily. Eukaryotic type I sub-subfamily." 9606.ENSP00000391747,LACC1,430,"Laccase domain-containing protein 1; Central regulator of the metabolic function and bioenergetic state of macrophages. In macrophages, promotes flux through de novo lipogenesis to concomitantly drive high levels of both fatty-acid oxidation and glycolysis." 9606.ENSP00000391748,PILRB,227,Paired immunoglobulin-like type 2 receptor beta; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface. 9606.ENSP00000391788,CCDC36,594,"Interactor of HORMAD1 protein 1; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance." 9606.ENSP00000391800,APLN,77,Apelin-13; Endogenous ligand for the apelin receptor (APLNR). Drives internalization of the apelin receptor (By similarity). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Hormone involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early co [...] 9606.ENSP00000391803,MITF,526,"Microphthalmia-associated transcription factor; Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocyt [...] " 9606.ENSP00000391806,E7ENX8_HUMAN,843,Uncharacterized protein. 9606.ENSP00000391826,IGF2,236,"Insulin-like growth factor II Ala-25 Del; The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Ac [...] " 9606.ENSP00000391942,NECAP2,273,Adaptin ear-binding coat-associated protein 2; Involved in endocytosis. 9606.ENSP00000392024,ZNF844,666,Zinc finger protein 844; May be involved in transcriptional regulation. 9606.ENSP00000392025,CYLD,956,"Ubiquitin carboxyl-terminal hydrolase CYLD; Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis. Plays an important role in the regulation of pathways leading to NF-kappa-B activation. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF- kappa-B activation. Negative regulator of Wnt signaling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules. Plays a role in the regu [...] " 9606.ENSP00000392028,CHD7,2997,Chromodomain-helicase-DNA-binding protein 7; Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. 9606.ENSP00000392043,ATP2B1,1220,Plasma membrane calcium-transporting ATPase 1; Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-ind [...] 9606.ENSP00000392065,REPS1,796,RalBP1-associated Eps domain-containing protein 1; May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. 9606.ENSP00000392066,DIP2A,1571,Disco-interacting protein 2 homolog A; May provide positional cues for axon pathfinding and patterning in the central nervous system. 9606.ENSP00000392094,EFTUD2,972,"116 kDa U5 small nuclear ribonucleoprotein component; Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily." 9606.ENSP00000392105,INAVA,578,"Innate immunity activator protein; Expressed in peripheral macrophages and intestinal myeloid- derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion. In the intestine, regulate [...] " 9606.ENSP00000392147,PPP6C,342,"Serine/threonine-protein phosphatase 6 catalytic subunit, N-terminally processed; Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1. During mitosis, regulates spindle positioning. Downregulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7. Participates also in the innate immune defense against viruses by desphosphorylating RI [...] " 9606.ENSP00000392189,KRTAP9-3,159,"Keratin-associated protein 9-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000392197,REEP1,208,"Receptor expression-enhancing protein 1; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenance." 9606.ENSP00000392204,KLLN,178,Killin; DNA-binding protein involved in S phase checkpoint control- coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA. 9606.ENSP00000392206,AGAP9,658,"ArfGAP with GTPase domain, ankyrin repeat and PH domain 9." 9606.ENSP00000392252,TTLL8,849,"Protein monoglycylase TTLL8; Monoglycylase which modifies both tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By similarity)." 9606.ENSP00000392257,PPIL6,337,Probable inactive peptidyl-prolyl cis-trans isomerase-like 6; Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity; Belongs to the cyclophilin-type PPIase family. 9606.ENSP00000392262,PPP5D1,171,Protein PPP5D1; PPP5 tetratricopeptide repeat domain containing 1. 9606.ENSP00000392270,STRAP,350,"Serine-threonine kinase receptor-associated protein; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICl [...] " 9606.ENSP00000392283,CT47A7,288,Cancer/testis antigen family 47 member A7. 9606.ENSP00000392318,KAT14,782,"Cysteine-rich protein 2-binding protein; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle." 9606.ENSP00000392330,BCAP31,313,"B-cell receptor-associated protein 31; Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8-mediated apoptosis. Belongs to the BCAP29/BCAP31 family." 9606.ENSP00000392353,PSMG4,162,Proteasome assembly chaperone 4; Chaperone protein which promotes assembly of the 20S proteasome. 9606.ENSP00000392368,CCDC198,336,Uncharacterized protein CCDC198; Coiled-coil domain containing 198. 9606.ENSP00000392371,ZSCAN30,494,Zinc finger and SCAN domain-containing protein 30; May be involved in transcriptional regulation. 9606.ENSP00000392395,CHFR,664,"E3 ubiquitin-protein ligase CHFR; E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the 'Lys- 48'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURK [...] " 9606.ENSP00000392398,GPX5,221,"Epididymal secretory glutathione peroxidase; Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. May constitute a glutathione peroxidase-like protective system against peroxide damage in sperm membrane lipids." 9606.ENSP00000392407,PRR20D,221,Proline rich 20D. 9606.ENSP00000392410,ZNF587B,402,Zinc finger protein 587B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000392411,SLC13A2,641,Solute carrier family 13 member 2; Cotransport of sodium ions and dicarboxylates such as succinate and citrate. 9606.ENSP00000392423,RELN,3460,"Reelin; Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity); Belongs to the reel [...] " 9606.ENSP00000392495,TRAPPC2,174,Trafficking protein particle complex subunit 2; Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. Sedlin subfamily. 9606.ENSP00000392500,NLGN1,823,"Neuroligin-1; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep." 9606.ENSP00000392511,PRRT3,981,Proline rich transmembrane protein 3. 9606.ENSP00000392513,AGAP4,663,"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4; Putative GTPase-activating protein; Belongs to the centaurin gamma-like family." 9606.ENSP00000392549,TTLL3,915,"Tubulin monoglycylase TTLL3; Monoglycylase which modifies alpha- and beta-tubulin, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction." 9606.ENSP00000392553,PLPP5,264,Phospholipid phosphatase 5; Magnesium-independent phospholipid phosphatase with broad substrate specificity. Preferentially catalyzes the conversion of diacylglycerol pyrophosphate into phosphatidate but can also act on phosphatidate and lysophosphatidate. Phospholipid phosphatases are involved in both the synthesis of lipids and the generation or degradation of lipid-signaling molecules. 9606.ENSP00000392568,DEFB130B,79,Defensin beta 130B. 9606.ENSP00000392617,SMARCD2,531,"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation." 9606.ENSP00000392660,ARHGAP28,570,Rho GTPase-activating protein 28; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000392678,AKIRIN1,192,"Akirin-1; Functions as signal transducer for MSTN during skeletal muscle regeneration and myogenesis. May regulate chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway; Belongs to the akirin family." 9606.ENSP00000392700,AMER3,861,"APC membrane recruitment protein 3; Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity)." 9606.ENSP00000392709,NDUFS1,741,"NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized." 9606.ENSP00000392718,POTEI,1075,POTE ankyrin domain family member I; In the N-terminal section; belongs to the POTE family. 9606.ENSP00000392726,POM121L2,1035,POM121-like protein 2; POM121 transmembrane nucleoporin like 2; Belongs to the POM121 family. 9606.ENSP00000392760,ARHGAP11B,267,"Rho GTPase-activating protein 11B; Hominin-specific protein that promotes development and evolutionary expansion of the brain neocortex. Able to promote amplification of basal progenitors in the subventricular zone, producing more neurons during fetal corticogenesis. Does not possess GTPase activator activity." 9606.ENSP00000392762,DCT,552,"L-dopachrome tautomerase; Catalyzes the conversion of L-dopachrome into 5,6- dihydroxyindole-2-carboxylic acid (DHICA). Involved in regulating eumelanin and phaeomelanin levels. Belongs to the tyrosinase family." 9606.ENSP00000392767,S100A13,98,"Protein S100-A13; Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine (By similarity)." 9606.ENSP00000392782,CLGN,610,Calmegin; Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity). 9606.ENSP00000392812,PIK3R5,880,Phosphoinositide 3-kinase regulatory subunit 5; Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein- mediated activation of PIK3CG (By similarity). 9606.ENSP00000392828,GPSM1,675,G-protein-signaling modulator 1; Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G- protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein- coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction. Belongs to the GPSM family. 9606.ENSP00000392879,TCP11X2,407,"T-complex 11 family, X-linked 2; Belongs to the TCP11 family." 9606.ENSP00000392896,HSBP1,76,Heat shock factor-binding protein 1; Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process; Belongs to the HSBP1 family. 9606.ENSP00000392906,PLEKHG2,1386,Pleckstrin homology domain-containing family G member 2; May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide-binding protein (G protein). Involved in the regulation of actin polymerization. 9606.ENSP00000392936,RFPL4A,287,Ret finger protein like 4A. 9606.ENSP00000392985,HTATIP2,276,Oxidoreductase HTATIP2; Oxidoreductase required for tumor suppression. NAPDH-bound form inhibits nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors. May act as a redox sensor linked to transcription through regulation of nuclear import. Isoform 1 is a metastasis suppressor with proapoptotic as well as antiangiogenic properties. Isoform 2 has an antiapoptotic effect. 9606.ENSP00000393066,SLC4A10,1118,"Sodium-driven chloride bicarbonate exchanger; Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH. Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange. Controls neuronal pH and may contribute to the secretion of cerebrospinal fluid (By similarity). Reduces the excitability o [...] " 9606.ENSP00000393097,GABRA1,456,"Gamma-aminobutyric acid receptor subunit alpha-1; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By si [...] " 9606.ENSP00000393098,LPAR5,372,"Lysophosphatidic acid receptor 5; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities." 9606.ENSP00000393099,MAPKBP1,1514,"Mitogen-activated protein kinase-binding protein 1; Negative regulator of NOD2 function. It down-regulates NOD2- induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response. Involved in JNK signaling pathway (By similarity)." 9606.ENSP00000393128,LHFPL3,222,LHFPL tetraspan subfamily member 3. 9606.ENSP00000393136,PRAMEF27,478,PRAME family member 27; Belongs to the PRAME family. 9606.ENSP00000393139,CDC7,574,Cell division cycle 7-related protein kinase; Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC7 subfamily. 9606.ENSP00000393154,FBXO15,510,F-box only protein 15; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000393161,TMEM151B,566,Transmembrane protein 151B; Belongs to the TMEM151 family. 9606.ENSP00000393183,DCAF1,1507,"DDB1- and CUL4-associated factor 1; Acts both as a substrate recognition component of E3 ubiquitin-protein ligase complexes and as an atypical serine/threonine- protein kinase, playing key roles in various processes such as cell cycle, telomerase regulation and histone modification. Probable substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin- protein ligase complex, named CUL4A-RBX1-DDB1-DCAF1/VPRBP complex, which mediates ubiquitination and proteasome-dependent degradation of proteins such as NF2. Involved in the turnover of methylated proteins: recognizes and binds me [...] " 9606.ENSP00000393198,HES4,247,Transcription factor HES-4; Transcriptional repressor. Binds DNA on N-box motifs: 5'- CACNAG-3' (By similarity). 9606.ENSP00000393222,CFAP221,840,Cilia- and flagella-associated protein 221; May play a role in cilium morphogenesis. 9606.ENSP00000393241,RPS18,152,"40S ribosomal protein S18; Located at the top of the head of the 40S subunit, it contacts several helices of the 18S rRNA." 9606.ENSP00000393260,ZNF7,697,Zinc finger protein 7; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000393275,NANOS1,292,Nanos homolog 1; May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion. Belongs to the nanos family. 9606.ENSP00000393312,FGFR1,853,"Fibroblast growth factor receptor 1; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 lea [...] " 9606.ENSP00000393313,EPS15L1,910,Epidermal growth factor receptor substrate 15-like 1; Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. 9606.ENSP00000393315,CT47A1,288,Cancer/testis antigen family 47 member A1. 9606.ENSP00000393316,TMX1,280,Thioredoxin-related transmembrane protein 1; May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. 9606.ENSP00000393324,EIF4E3,224,Eukaryotic translation initiation factor 4E type 3; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis. May act as an inhibitor of EIF4E1 activity (By similarity). 9606.ENSP00000393333,TBXA2R,407,"Thromboxane A2 receptor; Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G- protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase." 9606.ENSP00000393379,KIF5C,957,Kinesin heavy chain isoform 5C; Involved in synaptic transmission. Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily. 9606.ENSP00000393388,SNRPG,96,"Small nuclear ribonucleoprotein G; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing." 9606.ENSP00000393392,MYO1A,1043,Unconventional myosin-Ia; Involved in directing the movement of organelles along actin filaments; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. 9606.ENSP00000393417,CASP14,242,"Caspase-14 subunit p20, intermediate form; Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum. Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF. Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrie [...] " 9606.ENSP00000393453,SMYD1,490,"Histone-lysine N-methyltransferase SMYD1; Methylates histone H3 at 'Lys-4' (H3K4me), seems able to perform both mono-, di-, and trimethylation. Acts as a transcriptional repressor. Essential for cardiomyocyte differentiation and cardiac morphogenesis; Belongs to the class V-like SAM-binding methyltransferase superfamily." 9606.ENSP00000393474,CD163L1,1463,Scavenger receptor cysteine-rich type 1 protein M160; CD163 molecule like 1. 9606.ENSP00000393511,ABLIM2,645,Actin-binding LIM protein 2; May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity. 9606.ENSP00000393541,IFT27,186,"Intraflagellar transport protein 27 homolog; Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6. Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6. Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a rol [...] " 9606.ENSP00000393557,SLC4A4,1094,Electrogenic sodium bicarbonate cotransporter 1; Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. Belongs to the anion exchanger (TC 2.A.31) family. 9606.ENSP00000393559,PACS2,904,"Phosphofurin acidic cluster sorting protein 2; Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptotic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinc [...] " 9606.ENSP00000393566,HLA-DPA1,260,"HLA class II histocompatibility antigen, DP alpha 1 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for p [...] " 9606.ENSP00000393596,BIRC6,4857,"Baculoviral IAP repeat-containing protein 6; Anti-apoptotic protein which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Has an unusual ubiquitin conjugation system in that it could combine in a single polypeptide, ubiquitin conjugating (E2) with ubiquitin ligase (E3) activity, forming a chimeric E2/E3 ubiquitin ligase. Its tragets include CASP9 and DIABLO/SMAC. Acts as an inhibitor of CASP3, CASP7 and CASP9. Important regulator for the final stages of cytokinesis. Crucial for normal vesicle targeting to the site of abscission, but also [...] " 9606.ENSP00000393631,ADM5,153,Putative adrenomedullin-5-like protein; Probable non-functional remnant of adrenomedullin-5. Belongs to the adrenomedullin family. 9606.ENSP00000393667,FAM126B,530,Protein FAM126B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. Belongs to the FAM126 family. 9606.ENSP00000393675,MIGA1,633,Mitoguardin 1; Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD; Belongs to the mitoguardin family. 9606.ENSP00000393719,CLEC17A,378,"C-type lectin domain family 17, member A; Cell surface receptor which may be involved in carbohydrate- mediated communication between cells in the germinal center. Binds glycans with terminal alpha-linked mannose or fucose residues." 9606.ENSP00000393762,SESN1,551,"Sestrin-1; Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway. This stress-inducible metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitatin [...] " 9606.ENSP00000393776,FCHO2,810,"F-BAR domain only protein 2; Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2- dependen [...] " 9606.ENSP00000393785,NKIRAS1,192,"NF-kappa-B inhibitor-interacting Ras-like protein 1; Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB." 9606.ENSP00000393832,PPP1R3G,358,Protein phosphatase 1 regulatory subunit 3G; Glycogen-targeting subunit for protein phosphatase 1 (PP1). Involved in the regulation of hepatic glycogenesis in a manner coupled to the fasting-feeding cycle and distinct from other glycogen-targeting subunits (By similarity). 9606.ENSP00000393835,ZNF506,444,Zinc finger protein 506; May be involved in transcriptional regulation. 9606.ENSP00000393840,BLOC1S3,202,"Biogenesis of lysosome-related organelles complex 1 subunit 3; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking." 9606.ENSP00000393845,PPIAL4G,164,Peptidyl-prolyl cis-trans isomerase A-like 4G; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. 9606.ENSP00000393847,PLA2G10,165,Group 10 secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a powerful potency for releasing arachidonic acid from cell membrane phospholipids. Prefers phosphatidylethanolamine and phosphatidylcholine liposomes to those of phosphatidylserine. 9606.ENSP00000393854,CENPBD1,187,CENPB DNA-binding domain containing 1. 9606.ENSP00000393876,ZNF655,526,Zinc finger protein 655; May be involved in transcriptional regulation. 9606.ENSP00000393889,OR5K2,316,Olfactory receptor 5K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000393922,RUSC2,1516,Iporin; RUN and SH3 domain containing 2. 9606.ENSP00000393952,TTC39A,613,Tetratricopeptide repeat domain 39A. 9606.ENSP00000393963,KIFC1,673,Kinesin-like protein KIFC1; Minus end-directed microtubule-dependent motor required for bipolar spindle formation. May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. NCD subfamily. 9606.ENSP00000393978,PRKD2,878,"Serine/threonine-protein kinase D2; Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signaling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signaling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion. May potentiate mitogenesis induced by the neu [...] " 9606.ENSP00000393987,TAFA2,131,Chemokine-like protein TAFA-2; Has a role as neurotrophic factor involved in neuronal survival and neurobiological functions; Belongs to the TAFA family. 9606.ENSP00000394033,KCNK2,426,"Potassium channel subfamily K member 2; Ion channel that contributes to passive transmembrane potassium transport. Reversibly converts between a voltage-insensitive potassium leak channel and a voltage-dependent outward rectifying potassium channel in a phosphorylation-dependent manner. In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled recep [...] " 9606.ENSP00000394049,SLA,316,"Src-like-adapter; Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. Involved in the negative regulation of positive selection and mitosis of T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins." 9606.ENSP00000394051,NOSTRIN,563,Nostrin; Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane. 9606.ENSP00000394071,GDI1,447,"Rab GDP dissociation inhibitor alpha; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes." 9606.ENSP00000394078,LRRC74B,392,Leucine-rich repeat-containing protein 74B; Leucine rich repeat containing 74B. 9606.ENSP00000394085,JMJD6,414,"Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6; Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase. Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Regulates RNA splicing by mediating 5-hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65. Hydroxylates its own N-terminus, which is required for homooligomerization. In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by its [...] " 9606.ENSP00000394107,H7C0C1_HUMAN,242,Uncharacterized protein. 9606.ENSP00000394163,DAP,204,Death-associated protein 1; Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death. 9606.ENSP00000394168,SLCO1B7,640,Solute carrier organic anion transporter family member 1B7. 9606.ENSP00000394178,TMEM182,229,Transmembrane protein 182. 9606.ENSP00000394183,CDKN2AIPNL,116,CDKN2AIP N-terminal-like protein; CDKN2A interacting protein N-terminal like. 9606.ENSP00000394227,CSF2RA,434,"Granulocyte-macrophage colony-stimulating factor receptor subunit alpha; Low affinity receptor for granulocyte-macrophage colony- stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells; Belongs to the type I cytokine receptor family. Type 5 subfamily." 9606.ENSP00000394248,ZNF716,495,Zinc finger protein 716; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000394282,OR4F3,312,Olfactory receptor family 4 subfamily F member 3. 9606.ENSP00000394316,BZW1,451,Basic leucine zipper and W2 domain-containing protein 1; Enhances histone H4 gene transcription but does not seem to bind DNA directly. 9606.ENSP00000394331,COMMD5,224,COMM domain-containing protein 5; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Negatively regulates cell proliferation. Negatively regulates cell cycle G2/M phase transition probably by transactivating p21/CDKN1A through the p53/TP53-independent signaling pathway. Involved in kidney proximal tubule morphogenesis (By similarity). Down-regulates activation of NF-kappa-B. 9606.ENSP00000394352,DIXDC1,683,Dixin; Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2. 9606.ENSP00000394380,ZNF625,372,Zinc finger protein 625; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000394390,KCTD15,283,"BTB/POZ domain-containing protein KCTD15; During embryonic development, interferes with neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain." 9606.ENSP00000394394,ANAPC7,599,"Anaphase-promoting complex subunit 7; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC7 family." 9606.ENSP00000394417,MORF4L2,288,"Mortality factor 4-like protein 2; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative [...] " 9606.ENSP00000394472,BTBD18,712,"BTB/POZ domain-containing protein 18; Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene." 9606.ENSP00000394484,DCLK3,648,Serine/threonine-protein kinase DCLK3; Doublecortin like kinase 3. 9606.ENSP00000394496,CORO1C,527,"Coronin-1C; Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1. Increases the presence of activated RAC1 at the leading edge of migrating cells. Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments (By similarity). Plays a role in endoplasmic reticulum- associated endosome fission: localizes to endosome membrane tubules and promotes recruitment of TMCC1, leading to recruitment of the endoplasmic reticulum to endosome tubules for fission. Endosome me [...] " 9606.ENSP00000394510,PRR12,2036,Proline-rich protein 12; Proline rich 12. 9606.ENSP00000394546,NHSL1,1610,NHS-like protein 1; NHS like 1; Belongs to the NHS family. 9606.ENSP00000394560,MAPK9,424,"Mitogen-activated protein kinase 9; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress- activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as J [...] " 9606.ENSP00000394623,NUTM2B,878,NUT family member 2B. 9606.ENSP00000394624,OPRM1,493,"Mu-type opioid receptor; Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone. Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta-gamma dimer activating downstream cellular effectors. The agonist- and cell typ [...] " 9606.ENSP00000394653,IQCF5,148,IQ motif containing F5. 9606.ENSP00000394720,SEMA4B,837,Semaphorin-4B; Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. 9606.ENSP00000394734,CLK1,526,"Dual specificity protein kinase CLK1; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine- rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates: SRSF1, SRSF3 and PTPN1. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells and adenovirus E1A pre-mRNA; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lammer subfamily." 9606.ENSP00000394751,IPCEF1,438,Interaction protein for cytohesin exchange factors 1. 9606.ENSP00000394757,ZNF516,1163,"Zinc finger protein 516; Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress." 9606.ENSP00000394770,CMYA5,4069,Cardiomyopathy-associated protein 5; May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin- mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity). 9606.ENSP00000394791,SENP1,644,"Sentrin-specific protease 1; Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2. Deconjugates SUMO1 from [...] " 9606.ENSP00000394794,PTPN13,2490,Tyrosine-protein phosphatase non-receptor type 13; Tyrosine phosphatase which regulates negatively FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling. May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2. Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily. 9606.ENSP00000394842,GCA,217,Grancalcin; Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions. 9606.ENSP00000394888,DOCK8,2099,"Dedicator of cytokinesis protein 8; Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane. Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CC [...] " 9606.ENSP00000394936,ORM2,201,Alpha-1-acid glycoprotein 2; Functions as transport protein in the blood stream. Binds various hydrophobic ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability. Appears to function in modulating the activity of the immune system during the acute-phase reaction. 9606.ENSP00000394954,GSG1L,331,"Germ cell-specific gene 1-like protein; As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating." 9606.ENSP00000395012,KLHL24,600,"Kelch-like protein 24; Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity. As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation. Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity)." 9606.ENSP00000395086,TRIM51,452,Tripartite motif-containing 51. 9606.ENSP00000395204,TMEM68,324,Transmembrane protein 68. 9606.ENSP00000395219,IGFL2,130,Insulin growth factor-like family member 2; Potential ligand of the IGFLR1 cell membrane receptor. 9606.ENSP00000395220,SYTL5,752,Synaptotagmin-like protein 5; May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids. 9606.ENSP00000395232,MTFR2,385,Mitochondrial fission regulator 2; May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity). 9606.ENSP00000395244,TMEM229A,380,Transmembrane protein 229A. 9606.ENSP00000395249,RETREG2,543,Reticulophagy regulator family member 2; Belongs to the RETREG family. 9606.ENSP00000395259,ZBED9,1325,SCAN domain-containing protein 3; Zinc finger BED-type containing 9. 9606.ENSP00000395281,C9orf116,136,UPF0691 protein C9orf116; Chromosome 9 open reading frame 116. 9606.ENSP00000395294,CD70,208,"CD70 antigen; Cytokine which is the ligand for CD27. The CD70-CD27 pathway plays an important role in the generation and maintenance of T cell immunity, in particular during antiviral responses. Upon CD27 binding, induces the proliferation of costimulated T-cells and enhances the generation of cytolytic T-cells." 9606.ENSP00000395340,FAM185A,392,Protein FAM185A; Family with sequence similarity 185 member A. 9606.ENSP00000395461,BTBD19,291,BTB/POZ domain-containing protein 19; BTB domain containing 19. 9606.ENSP00000395473,MAN2B1,1011,Lysosomal alpha-mannosidase A peptide; Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages; Belongs to the glycosyl hydrolase 38 family. 9606.ENSP00000395474,SNX10,201,"Sorting nexin-10; Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption." 9606.ENSP00000395505,PATE3,98,Prostate and testis expressed 3; Belongs to the PATE family. 9606.ENSP00000395535,MECP2,498,"Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)- containing DNA, with a preference for 5-methylcytosine (5mC)." 9606.ENSP00000395538,TNRC18,2968,Trinucleotide repeat-containing gene 18 protein; Trinucleotide repeat containing 18. 9606.ENSP00000395574,ELOA,798,"Elongin-A; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex)." 9606.ENSP00000395587,CTAGE9,777,CTAGE family member 9. 9606.ENSP00000395590,IFI35,288,Interferon-induced 35 kDa protein; Not yet known; Belongs to the NMI family. 9606.ENSP00000395704,CXCR6,342,C-X-C chemokine receptor type 6; Receptor for the C-X-C chemokine CXCL16. Used as a coreceptor by SIVs and by strains of HIV-2 and m-tropic HIV-1. 9606.ENSP00000395708,RAPGEF3,923,"Rap guanine nucleotide exchange factor 3; Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP- induced dynamic control of endothelial barrier function through a pathway that is independent on Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and junction [...] " 9606.ENSP00000395723,ZNF200,395,Zinc finger protein 200; Could have a role in spermatogenesis. 9606.ENSP00000395733,ZNF737,536,Zinc finger protein 737; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000395738,TRMT2A,643,tRNA (uracil-5-)-methyltransferase homolog A; May be involved in nucleic acid metabolism and/or modifications; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family. 9606.ENSP00000395772,GNL3,549,"Guanine nucleotide-binding protein-like 3; May be required to maintain the proliferative capacity of stem cells. Stabilizes MDM2 by preventing its ubiquitination, and hence proteasomal degradation (By similarity); Belongs to the TRAFAC class YlqF/YawG GTPase family." 9606.ENSP00000395793,WDR20,612,WD repeat-containing protein 20; Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12. Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme. 9606.ENSP00000395835,ITPRID1,1062,Protein ITPRID1; ITPR interacting domain containing 1. 9606.ENSP00000395929,NSD1,2696,"Histone-lysine N-methyltransferase, H3 lysine-36 specific; Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context." 9606.ENSP00000395983,SLC12A4,1087,Solute carrier family 12 member 4; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity. 9606.ENSP00000396045,PLA2G4B,781,Cytosolic phospholipase A2 beta; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position with a preference for arachidonoyl phospholipids. Has a much weaker activity than PLA2G4A. Isoform 3 has calcium-dependent activity against palmitoyl- arachidonyl-phosphatidylethanolamine and low level lysophospholipase activity but no activity against phosphatidylcholine. Isoform 5 does have activity against phosphatidylcholine. 9606.ENSP00000396052,BRMS1,290,"Breast cancer metastasis-suppressor 1; Transcriptional repressor. Down-regulates transcription activation by NF-kappa-B by promoting the deacetylation of RELA at 'Lys-310'. Promotes HDAC1 binding to promoter regions. Down-regulates expression of anti-apoptotic genes that are controlled by NF-kappa-B. Promotes apoptosis in cells that have inadequate adherence to a substrate, a process called anoikis, and may thereby inhibit metastasis. May be a mediator of metastasis suppression in breast carcinoma." 9606.ENSP00000396068,UBR3,1888,"E3 ubiquitin-protein ligase UBR3; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (By similarity). Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N- end rule, leading to their ubiquitination and subsequent degradation (By similarity). May play a role in Shh signaling by mediating the ubiquitination of Kif7 (By similarity). May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A ; Belongs to the UBR1 family." 9606.ENSP00000396077,PRRT1-2,62,Proline-rich transmembrane protein 1. 9606.ENSP00000396085,OR6V1,313,Olfactory receptor 6V1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000396160,FBRSL1,1045,Fibrosin-1-like protein; Fibrosin like 1; Belongs to the AUTS2 family. 9606.ENSP00000396163,CLEC2A,174,C-type lectin domain family 2 member A; Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity. 9606.ENSP00000396198,FGF13,255,"Fibroblast growth factor 13; Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). May regulate voltage-gated sodium channels transport and function. May also play a role in MAPK signaling (By similarity). Required for th [...] " 9606.ENSP00000396225,DELE1,515,DAP3-binding cell death enhancer 1; Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. 9606.ENSP00000396234,DEPDC4,294,DEP domain containing 4. 9606.ENSP00000396301,IK,557,"Protein Red; Involved in pre-mRNA splicing as a component of the spliceosome. Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression. Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint. Required for normal accumulation of SMU1." 9606.ENSP00000396304,CLDN25,229,"Putative claudin-25; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000396308,DHFR,187,"Dihydrofolate reductase; Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2." 9606.ENSP00000396320,SCN4A,1836,"Sodium channel protein type 4 subunit alpha; Pore-forming subunit of a voltage-gated sodium channel complex through which Na(+) ions pass in accordance with their electrochemical gradient. Alternates between resting, activated and inactivated states. Required for normal muscle fiber excitability, normal muscle contraction and relaxation cycles, and constant muscle strength in the presence of fluctuating K(+) levels. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily." 9606.ENSP00000396330,HLA-DQB2,264,"HLA class II histocompatibility antigen, DQ beta 2 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] " 9606.ENSP00000396345,CHD9,2897,Chromodomain-helicase-DNA-binding protein 9; Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Proposed to be a ATP-dependent chromatin remodeling protein. Has DNA-dependent ATPase activity and binds to A/T- rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity); Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000396379,ZNF302,443,Zinc finger protein 302. 9606.ENSP00000396441,GPATCH4,375,G-patch domain containing 4. 9606.ENSP00000396445,OSGIN2,549,Oxidative stress-induced growth inhibitor 2; May be involved in meiosis or the maturation of germ cells. 9606.ENSP00000396452,PUDP,251,"Pseudouridine-5'-phosphatase; Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine; Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family." 9606.ENSP00000396467,MAPKAPK3,382,"MAP kinase-activated protein kinase 3; Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity and level in protein expression are lower compared to [...] " 9606.ENSP00000396523,SLC35G6,338,Solute carrier family 35 member G6. 9606.ENSP00000396527,H7C0S8_HUMAN,307,RPOL4c domain-containing protein. 9606.ENSP00000396593,DYTN,578,Dystrotelin. 9606.ENSP00000396615,GLB1L3,653,Beta-galactosidase-1-like protein 3; Galactosidase beta 1 like 3. 9606.ENSP00000396622,MROH7,1323,Maestro heat like repeat family member 7. 9606.ENSP00000396628,TEX264,313,"Testis-expressed protein 264; Major reticulophagy (also called ER-phagy) receptor that acts independently of other candidate reticulophagy receptors to remodel subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover. The ATG8- containing isolation membrane (IM) cradles a tubular segment of TEX264- positive ER near a three-way junction, allowing the formation of a synapse of 2 juxtaposed membranes with trans interaction between the TEX264 and ATG8 proteins. Expansion of the IM would extend the ca [...] " 9606.ENSP00000396648,PRR23C,262,Proline-rich protein 23C; Proline rich 23C; Belongs to the PRR23 family. 9606.ENSP00000396673,FTSJ3,847,pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3; RNA 2'-O-methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation. 9606.ENSP00000396688,C4A,1744,"Complement C4-A alpha chain; Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens." 9606.ENSP00000396722,NTM,355,Neurotrimin; Neural cell adhesion molecule; Belongs to the immunoglobulin superfamily. IgLON family. 9606.ENSP00000396747,ANKRD60,345,Ankyrin repeat domain 60. 9606.ENSP00000396749,KANSL3,878,KAT8 regulatory NSL complex subunit 3; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. 9606.ENSP00000396755,CNTD2,307,Cyclin N-terminal domain-containing protein 2. 9606.ENSP00000396843,NFIC,508,Nuclear factor 1 C-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. 9606.ENSP00000396857,ZNF697,545,Zinc finger protein 697; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000396915,SCN1B,268,"Sodium channel subunit beta-1; Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A." 9606.ENSP00000396918,URGCP,931,Up-regulator of cell proliferation; May be involved in cell cycle progression through the regulation of cyclin D1 expression. May participate in the development of hepatocellular carcinoma (HCC) by promoting hepatocellular growth and survival. May play an important role in development of gastric cancer. 9606.ENSP00000396935,RUBCNL,662,"Protein associated with UVRAG as autophagy enhancer; Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy. Acts by antagonizing RUBCN, thereby stimulating phosphatidylinositol 3-kinase activity of the PI3K/PI3KC3 complex. Following anchorage to the autophagosomal SNARE STX17, promotes the recruitment of PI3K/PI3KC3 and HOPS complexes to the autophagosome to regulate the fusion specificity of autophagosomes with late endosomes/lysosomes. Binds phosphoinositides phosphatidy [...] " 9606.ENSP00000396936,PRR29,236,Proline-rich protein 29; Proline rich 29. 9606.ENSP00000396937,PSMD13,378,"26S proteasome non-ATPase regulatory subunit 13; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair." 9606.ENSP00000396954,ATF5,282,"Cyclic AMP-dependent transcription factor ATF-5; Transcription factor that either stimulates or represses gene transcription through binding of different DNA regulatory elements such as cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), ATF5-specific response element (ARE) (consensus: 5'- C[CT]TCT[CT]CCTT[AT]-3') but also the amino acid response element (AARE), present in many viral and cellular promoters. Critically involved, often in a cell type-dependent manner, in cell survival, proliferation, and differentiation. Its transcriptional activity is enhanced by CCND3 and s [...] " 9606.ENSP00000396976,BAHD1,780,"Bromo adjacent homology domain-containing 1 protein; Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3." 9606.ENSP00000396995,TENT4B,698,Terminal nucleotidyltransferase 4B; Terminal nucleotidyltransferase that catalyzes preferentially the transfert of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation. Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't [...] 9606.ENSP00000397002,TEX22,150,Testis-expressed protein 22; Testis expressed 22. 9606.ENSP00000397026,GRIK2,908,"Glutamate receptor ionotropic, kainate 2; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. M [...] " 9606.ENSP00000397039,SMIM34A,139,Small integral membrane protein 34A. 9606.ENSP00000397050,PPM1N,430,"Protein phosphatase, Mg2+/Mn2+ dependent 1N; Belongs to the PP2C family." 9606.ENSP00000397073,TRIM10,481,Tripartite motif-containing protein 10; Seems to play an important role in erythropoiesis. Belongs to the TRIM/RBCC family. 9606.ENSP00000397082,SFTPA1,263,"Pulmonary surfactant-associated protein A1; In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air- liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity)." 9606.ENSP00000397103,GAGE12C,117,G antigen 12C. 9606.ENSP00000397133,PRKAG3,489,"5'-AMP-activated protein kinase subunit gamma-3; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a [...] " 9606.ENSP00000397151,TSPY10,294,Testis specific protein Y-linked 10; Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000397157,PERP,193,P53 apoptosis effector related to PMP-22; Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). 9606.ENSP00000397172,BLCAP,87,Bladder cancer-associated protein; May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B. 9606.ENSP00000397178,ZNF300,620,Zinc finger protein 300; Has a transcriptional repressor activity. 9606.ENSP00000397181,RGS4,302,Regulator of G-protein signaling 4; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)- alpha-1 is inhibited by palmitoylation of the G-protein. 9606.ENSP00000397188,FAM104B,116,Protein FAM104B; Family with sequence similarity 104 member B. 9606.ENSP00000397239,KDM4E,506,"Lysine-specific demethylase 4E; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code." 9606.ENSP00000397249,BZW2,419,Basic leucine zipper and W2 domain-containing protein 2; May be involved in neuronal differentiation. 9606.ENSP00000397259,ATXN7L3,354,"Ataxin-7-like protein 3; Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and EN [...] " 9606.ENSP00000397261,SELENBP1,514,"Methanethiol oxidase; Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria. Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity)." 9606.ENSP00000397269,FAM136A,245,Protein FAM136A; Family with sequence similarity 136 member A. 9606.ENSP00000397297,NTF3,270,Neurotrophin-3; Seems to promote the survival of visceral and proprioceptive sensory neurons; Belongs to the NGF-beta family. 9606.ENSP00000397312,LRRN3,708,Leucine rich repeat neuronal 3. 9606.ENSP00000397351,GRID2IP,1211,"Delphilin; Postsynaptic scaffolding protein at the parallel fiber- Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules." 9606.ENSP00000397394,C19orf25,118,UPF0449 protein C19orf25; Chromosome 19 open reading frame 25; Belongs to the UPF0449 family. 9606.ENSP00000397402,TSEN34,315,"tRNA-splicing endonuclease subunit Sen34; Constitutes one of the two catalytic subunit of the tRNA- splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structura [...] " 9606.ENSP00000397415,RLN3,142,"Relaxin-3 A chain; May play a role in neuropeptide signaling processes. Ligand for LGR7, relaxin-3 receptor-1 (GPCR135) and relaxin-3 receptor-2 (GPCR142); Belongs to the insulin family." 9606.ENSP00000397435,TSC22D1,1073,TSC22 domain family protein 1; Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter. 9606.ENSP00000397441,COG6,657,Conserved oligomeric Golgi complex subunit 6; Required for normal Golgi function; Belongs to the COG6 family. 9606.ENSP00000397459,DUSP22,205,Dual specificity protein phosphatase 22; Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) (By similarity). 9606.ENSP00000397552,ACTL6A,429,"Actin-like protein 6A; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remo [...] " 9606.ENSP00000397563,TENT2,484,"Poly(A) RNA polymerase GLD2; Cytoplasmic poly(A) RNA polymerase that adds successive AMP monomers to the 3'-end of specific RNAs, forming a poly(A) tail. In contrast to the canonical nuclear poly(A) RNA polymerase, it only adds poly(A) to selected cytoplasmic mRNAs. Does not play a role in replication-dependent histone mRNA degradation. Adds a single nucleotide to the 3' end of specific miRNAs, monoadenylation stabilizes and prolongs the activity of some but not all miRNAs ; Belongs to the DNA polymerase type-B-like family. GLD2 subfamily." 9606.ENSP00000397566,GTF2IRD1,976,"General transcription factor II-I repeat domain-containing protein 1; May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow- twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity)." 9606.ENSP00000397598,KY,661,"Kyphoscoliosis peptidase; Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity); Belongs to the transglutaminase-like superfamily." 9606.ENSP00000397655,ASB15,588,Ankyrin repeat and SOCS box protein 15; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000397673,ALKBH8,667,"Alkylated DNA repair protein alkB homolog 8; Catalyzes the methylation of 5-carboxymethyl uridine to 5- methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain. Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA. Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in [...] " 9606.ENSP00000397679,ENDOU,410,Poly(U)-specific endoribonuclease; Endoribonuclease that cleaves single-stranded RNAs at uridylates and releases products that have 2'-3'-cyclic phosphate termini. 9606.ENSP00000397693,ZNF28,718,Zinc finger protein 28; May be involved in transcriptional regulation. 9606.ENSP00000397843,TMA7,64,Translation machinery associated 7 homolog. 9606.ENSP00000397863,IL34,242,"Interleukin-34; Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1; Belongs to the IL-34 family." 9606.ENSP00000397881,PET117,81,"Protein PET117 homolog, mitochondrial; PET117 cytochrome c oxidase chaperone." 9606.ENSP00000397900,MRO,262,Maestro. 9606.ENSP00000397908,LPIN1,975,"Phosphatidate phosphatase LPIN1; Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fiss [...] " 9606.ENSP00000397911,SP140L,580,SP140 nuclear body protein like. 9606.ENSP00000397925,ATP2C2,975,Calcium-transporting ATPase type 2C member 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. 9606.ENSP00000397927,POLDIP3,438,Polymerase delta-interacting protein 3; Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Involved in nuclear mRNA export; probably mediated by association with the TREX complex. 9606.ENSP00000397942,C9J4A7_HUMAN,227,Uncharacterized protein. 9606.ENSP00000397947,PLEKHA8,519,"Pleckstrin homology domain-containing family A member 8; Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4- phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by [...] " 9606.ENSP00000397968,CROCC2,1655,"Ciliary rootlet coiled-coil, rootletin family member 2; Belongs to the rootletin family." 9606.ENSP00000398017,CLDN9,217,"Claudin-9; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000398035,F8W6W0_HUMAN,171,Uncharacterized protein. 9606.ENSP00000398064,HIGD1A,107,"HIG1 domain family member 1A, mitochondrial; Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes." 9606.ENSP00000398076,ATP9B,1147,Probable phospholipid-transporting ATPase IIB; ATPase phospholipid transporting 9B. 9606.ENSP00000398083,TMEM243,118,Transmembrane protein 243; Belongs to the TMEM243 family. 9606.ENSP00000398089,ZNF821,412,Zinc finger protein 821; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000398106,ZBED5,693,Zinc finger BED-type containing 5. 9606.ENSP00000398124,E2F5,346,"Transcription factor E2F5; Transcriptional activator that binds to E2F sites, these sites are present in the promoter of many genes whose products are involved in cell proliferation. May mediate growth factor-initiated signal transduction. It is likely involved in the early responses of resting cells to growth factor stimulation. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis. Belongs to the E2F/DP family." 9606.ENSP00000398131,GSPT1,637,"Eukaryotic peptide chain release factor GTP-binding subunit ERF3A; Involved in translation termination in response to the termination codons UAA, UAG and UGA (By similarity). Stimulates the activity of ETF1 (By similarity). Involved in regulation of mammalian cell growth. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense- mediated decay (NMD) of mRNAs containing premature stop codons. Required for SHFL-mediated translation termination which inhibits programmed ribosomal frameshifting (-1PRF) of mRNA from viruses and cellular gen [...] " 9606.ENSP00000398181,ALKBH2,261,"DNA oxidative demethylase ALKBH2; Dioxygenase that repairs alkylated DNA and RNA containing 1- methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1-ethenoadenine (in vitro). Has strong preference for double-stranded DNA. Has low efficiency with single- stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron." 9606.ENSP00000398211,TTC21A,1320,Tetratricopeptide repeat protein 21A; Intraflagellar transport (IFT)-associated protein required for spermatogenesis. Required for sperm flagellar formation and intraflagellar transport. Belongs to the TTC21 family. 9606.ENSP00000398273,SOX5,763,Transcription factor SOX-5; Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro. 9606.ENSP00000398342,PPP1R14D,200,"Protein phosphatase 1 regulatory subunit 14D; Inhibitor of PPP1CA. Has inhibitory activity only when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction." 9606.ENSP00000398350,C11orf68,293,UPF0696 protein C11orf68; Chromosome 11 open reading frame 68. 9606.ENSP00000398368,LIFR,1097,Leukemia inhibitory factor receptor; Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells; Belongs to the type I cytokine receptor family. Type 2 subfamily. 9606.ENSP00000398401,FAM133B,247,Protein FAM133B; Family with sequence similarity 133 member B. 9606.ENSP00000398410,KDM8,454,"Bifunctional peptidase and arginyl-hydroxylase JMJD5; Bifunctional enzyme that acts both as an endopeptidase and 2- oxoglutarate-dependent monoxygenase. Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation. Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4. After initial cleavage, continues to digest histones tails via its aminopeptidase activity. Upon DNA damage, cleaves the N-term [...] " 9606.ENSP00000398454,GOLGA8N,632,Golgin A8 family member N; Belongs to the GOLGA8 family. 9606.ENSP00000398481,CADPS2,1296,Calcium-dependent secretion activator 2; Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). 9606.ENSP00000398495,DIABLO-2,239,"Diablo homolog, mitochondrial; Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in t [...] " 9606.ENSP00000398502,EEF2KMT,330,Protein-lysine N-methyltransferase EEF2KMT; Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on 'Lys-525'. 9606.ENSP00000398523,CALCOCO2,470,Calcium-binding and coiled-coil domain-containing protein 2; Xenophagy-specific receptor required for autophagy-mediated intracellular bacteria degradation. Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens such as Salmonella typhimurium upon entry into the cytosol by targeting LGALS8-associated bacteria for autophagy. Initially orchestrates bacteria targeting to autophagosomes and subsequently ensures pathogen degradation by regulating pathogen-containing autophagosome maturation. Bacteria targeting to autophagosomes [...] 9606.ENSP00000398526,ENSP00000398526,630,Novel protein. 9606.ENSP00000398559,CT47A3,288,Cancer/testis antigen family 47 member A3. 9606.ENSP00000398560,SPATA13,1277,"Spermatogenesis-associated protein 13; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression." 9606.ENSP00000398568,PRF1,555,"Perforin-1; Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes. Belongs to the complement C6/C7/C8/C9 family." 9606.ENSP00000398596,TAMM41,337,"Phosphatidate cytidylyltransferase, mitochondrial; Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane." 9606.ENSP00000398597,EXOSC6,272,"Exosome complex component MTR3; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytop [...] " 9606.ENSP00000398610,ANXA11,505,Annexin A11; Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis. 9606.ENSP00000398617,FAM71E2,922,Protein FAM71E2; Family with sequence similarity 71 member E2; Belongs to the FAM71 family. 9606.ENSP00000398619,KRTAP25-1,102,"Keratin-associated protein 25-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins (By similarity); Belongs to the PMG family." 9606.ENSP00000398629,GNG4,75,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000398632,CD44,742,"CD44 antigen; Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment. Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, hematopoiesis, inflammation and response to bacterial infection. Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its c [...] " 9606.ENSP00000398637,ARL13A,256,ADP-ribosylation factor-like protein 13A; ADP ribosylation factor like GTPase 13A. 9606.ENSP00000398655,ITK,620,"Tyrosine-protein kinase ITK/TSK; Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the a [...] " 9606.ENSP00000398688,VWA5B2,1242,Von Willebrand factor A domain containing 5B2. 9606.ENSP00000398698,TNF,233,"Tumor necrosis factor, membrane form; Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Impairs regulatory T- cells (Treg) function in individuals with rheumatoid arthritis via FOXP3 dephosphorylation. Upregulates the expression of protein phosphatase 1 [...] " 9606.ENSP00000398722,CHID1,418,"Chitinase domain-containing protein 1; Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro); Belongs to the glycosyl hydrolase 18 family." 9606.ENSP00000398725,C2orf74,115,Uncharacterized protein C2orf74; Chromosome 2 open reading frame 74. 9606.ENSP00000398736,CCN1,381,"CCN family member 1; Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up- regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CCN1-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell m [...] " 9606.ENSP00000398778,RELL1,271,"RELT-like protein 1; Induces activation of MAPK14/p38 cascade, when overexpressed. Induces apoptosis, when overexpressed." 9606.ENSP00000398789,SNX13,957,Sorting nexin-13; May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas. 9606.ENSP00000398798,ZNF142,1687,Zinc finger protein 142; May be involved in transcriptional regulation. 9606.ENSP00000398803,TSTA3,321,"GDP-L-fucose synthase; Catalyzes the two-step NADP-dependent conversion of GDP-4- dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction." 9606.ENSP00000398824,PHF21A,680,"PHD finger protein 21A; Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation." 9606.ENSP00000398832,AGTR1,394,Type-1 angiotensin II receptor; Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. 9606.ENSP00000398837,KMT2B,2715,"Histone-lysine N-methyltransferase 2B; Histone methyltransferase that methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencin [...] " 9606.ENSP00000398880,CDK12,1490,"Cyclin-dependent kinase 12; Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates 'Ser-5' in CTD repeats that are already phosphorylated at 'Ser-7', but can also phosphorylate 'Ser-2'. Required for RNA splicing, possibly by phosphorylating SRSF1/SF2. Involved in regulation of MAP kinase activity, possibly leading [...] " 9606.ENSP00000398882,DOHH,302,Deoxyhypusine hydroxylase; Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L- lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF- 5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity). 9606.ENSP00000398890,HLA-DMB,263,"HLA class II histocompatibility antigen, DM beta chain; Plays a critical role in catalyzing the release of class II- associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO." 9606.ENSP00000399013,CNTNAP5,1306,Contactin-associated protein-like 5; May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication; Belongs to the neurexin family. 9606.ENSP00000399136,SLC6A12,614,"Sodium- and chloride-dependent betaine transporter; Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation." 9606.ENSP00000399168,HLA-B,362,"HLA class I histocompatibility antigen, B alpha chain; Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells. May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usuall [...] " 9606.ENSP00000399208,DDX19B-2,479,"ATP-dependent RNA helicase DDX19B; ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins." 9606.ENSP00000399229,MXRA8,450,"Matrix remodeling-associated protein 8; Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3. Mediates heterophilic cell-cell interactions in vitro (By similarity). Inhibits osteoclastogenesis downstream of TNFSF11/RANKL and CSF1, where it may function by attenuating signaling via integrin ITGB3 and MAP kinase p38 (By similarity). Plays a role in cartilage formation where it promotes proliferation and maturation of growth plate chondrocytes (By similarity). Stimulates formation of primary cilia in chondrocytes (By [...] " 9606.ENSP00000399259,FCHSD1,690,F-BAR and double SH3 domains protein 1; Promotes actin polymerization mediated by SNX9 and WASL. 9606.ENSP00000399324,FGF16,207,"Fibroblast growth factor 16; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development. Belongs to the heparin-binding growth factors family." 9606.ENSP00000399356,CT62,136,Cancer/testis associated 62. 9606.ENSP00000399376,PRNP,253,Major prion protein; Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase deg [...] 9606.ENSP00000399392,C3orf52,250,TPA-induced transmembrane protein; Chromosome 3 open reading frame 52. 9606.ENSP00000399403,KLC2,622,Kinesin light chain 2; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). 9606.ENSP00000399415,KYAT1,516,"Kynurenine--oxoglutarate transaminase 1; Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond." 9606.ENSP00000399441,LRRC70,622,Leucine-rich repeat-containing protein 70; Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS). 9606.ENSP00000399457,DDOST,456,Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation. Belongs to the DDOST 48 kDa subunit family. 9606.ENSP00000399465,ATF7,483,"Cyclic AMP-dependent transcription factor ATF-7; Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters. Activator of the NF-ELAM1/delta-A site of the E-selectin promoter. Has no intrinsic transcriptional activity, but activates transcription on formation of JUN or FOS heterodimers. Also can bind TRE promoter sequences when heterodimerized with members of the JUN family. Isoform 5 acts as a negative regulator, inhibiting both ATF2 and ATF7 transcriptional activi [...] " 9606.ENSP00000399475,JMJD8,285,JmjC domain-containing protein 8; Functions as a positive regulator of TNF-induced NF-kappa-B signaling. Regulates angiogenesis and cellular metabolism through interaction with PKM. 9606.ENSP00000399485,LY6H,161,Lymphocyte antigen 6H; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4- containing nAChRs maximum response. May play a role in the intracellular trafficking of alpha-7-containing nAChRs and may inhibit their expression at the cell surface. Seems to inhibit alpha-7/CHRNA7 signaling in hippocampal neurons. 9606.ENSP00000399511,TNIK,1360,"TRAF2 and NCK-interacting protein kinase; Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N- terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate [...] " 9606.ENSP00000399518,SATB1,795,"DNA-binding protein SATB1; Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity). Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, by binding to matrix attachment regions (MARs) of DNA and [...] " 9606.ENSP00000399547,ANKRD63,380,Ankyrin repeat domain 63. 9606.ENSP00000399585,MRS2,446,"Magnesium transporter MRS2 homolog, mitochondrial; Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix. Required for normal expression of the mitochondrial respiratory complex I subunits ; Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family." 9606.ENSP00000399588,GAB3,587,GRB2 associated binding protein 3. 9606.ENSP00000399679,PRG4,1404,Proteoglycan 4 C-terminal part; Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface. 9606.ENSP00000399696,H7C1D1_HUMAN,291,Uncharacterized protein. 9606.ENSP00000399700,PLAC8,115,Placenta-specific gene 8 protein; Placenta associated 8. 9606.ENSP00000399709,BEST1,604,Bestrophin-1; Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. 9606.ENSP00000399711,CT47A6,288,Cancer/testis antigen family 47 member A6. 9606.ENSP00000399718,MBIP,344,"MAP3K12-binding inhibitory protein 1; Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4." 9606.ENSP00000399745,CHRM2,466,"Muscarinic acetylcholine receptor M2; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol." 9606.ENSP00000399751,LRCH3,803,"DISP complex protein LRCH3; As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton." 9606.ENSP00000399797,MOV10,1003,"Helicase MOV-10; 5' to 3' RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3' UTRs. Required for microRNA (miRNA)-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC. In cooperation with FMR1, regulates miRNA-mediated translational repression by AGO2. Restricts retrotransposition of long interspersed element-1 (LINE-1) in cooperation with TUT4 and TUT7 counteracting the RNA chaperonne activity of L1RE1. Facilitates LINE-1 [...] " 9606.ENSP00000399805,CRYZ,329,"Quinone oxidoreductase; Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification of xenobiotics. Interacts with (AU)-rich elements (ARE) in the 3'-UTR of target mRNA species. Enhances the stability of mRNA coding for BCL2. NADPH binding interferes with mRNA binding." 9606.ENSP00000399808,HOXC4,264,Homeobox protein Hox-C4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000399851,POLG,1239,DNA polymerase subunit gamma-1; Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA; Belongs to the DNA polymerase type-A family. 9606.ENSP00000399862,CNOT10,804,"CCR4-NOT transcription complex subunit 10; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4-NOT complex." 9606.ENSP00000399863,ZNF839,927,Zinc finger protein 839. 9606.ENSP00000399888,HMGA1,107,"High mobility group protein HMG-I/HMG-Y; HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions." 9606.ENSP00000399903,NBEAL1,2694,Neurobeachin-like protein 1; Neurobeachin like 1; Belongs to the WD repeat neurobeachin family. 9606.ENSP00000399968,NCOA2,1464,"Nuclear receptor coactivator 2; Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues. Critical regulator of glucose metabolism regulation, acts as RORA coactivator to specifically modulate G6PC expression. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. Positively regulates the circadian clock by [...] " 9606.ENSP00000399970,PPP2R2D,453,"Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform; B regulatory subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. The activity of PP2A complexes containing PPP2R2D (PR55-delta) fluctuate during the cell cycle: the activity is high in interphase and low in mitosis. During mitosis, activity of PP2A is inhibited via interaction with phosphorylated ENSA and ARPP19 inhibitors. Within the PP2A complexes, the B regulatory subunits modulate substrate selectivity and catalytic activity, and also ma [...] " 9606.ENSP00000399979,SLC52A1,448,"Solute carrier family 52, riboflavin transporter, member 1; Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism. Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption." 9606.ENSP00000399982,TAF6,714,"Transcription initiation factor TFIID subunit 6; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors; Belongs to the TAF6 family." 9606.ENSP00000400010,PTPRJ,1337,"Receptor-type tyrosine-protein phosphatase eta; Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, RET (variant MEN2A), KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2. Plays a role in cell adhesion, migration, proliferation and differentiation. Involved in vascular development. Regulator of macrophage adhesion and spreading. Positively affects cell-matrix adhesion. Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation. Negative regulator of PDGF- stimulated cell [...] " 9606.ENSP00000400041,KRTAP5-2,177,"Keratin-associated protein 5-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family." 9606.ENSP00000400046,CT47A8,288,Cancer/testis antigen family 47 member A8. 9606.ENSP00000400057,ASRGL1,308,"Isoaspartyl peptidase/L-asparaginase alpha chain; Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp- L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, [...] " 9606.ENSP00000400099,RIPOR1,1239,"Rho family-interacting cell polarization regulator 1; Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration. Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation. Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation. Belongs to the RIPOR family." 9606.ENSP00000400101,SLC25A13,676,Calcium-binding mitochondrial carrier protein Aralar2; Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. 9606.ENSP00000400113,ZDHHC13,622,Palmitoyltransferase ZDHHC13; Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport; Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily. 9606.ENSP00000400142,EWSR1,661,"RNA-binding protein EWS; Might normally function as a transcriptional repressor. EWS- fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes; Belongs to the RRM TET family." 9606.ENSP00000400157,B3GNT9,402,"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9." 9606.ENSP00000400168,ATP5MF-PTCD1,749,ATP5MF-PTCD1 readthrough. 9606.ENSP00000400175,RHOA,193,"Transforming protein RhoA; Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Plays an essent [...] " 9606.ENSP00000400184,NDUFAF8,74,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1). Required to stabilize NDUFAF5." 9606.ENSP00000400223,FJX1,437,Four-jointed box protein 1; Acts as an inhibitor of dendrite extension and branching. Belongs to the FJX1/FJ family. 9606.ENSP00000400224,TBATA,352,Protein TBATA; May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function. 9606.ENSP00000400252,DNAI2,605,"Dynein intermediate chain 2, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family." 9606.ENSP00000400312,ULK3,472,"Serine/threonine-protein kinase ULK3; Serine/threonine protein kinase that acts as a regulator of Sonic hedgehog (SHH) signaling and autophagy. Acts as a negative regulator of SHH signaling in the absence of SHH ligand: interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3). Positively regulates SHH signaling in the presence of SHH: dissociates from SUFU, autophosphorylates and mediates phosphorylation of GLI2, activating it and promoting its nuclear translocation. Phosphorylates in vitro GLI2, as we [...] " 9606.ENSP00000400325,SLC2A11-2,209,MFS domain-containing protein. 9606.ENSP00000400333,SNX27,541,"Sorting nexin-27; Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C- terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing e [...] " 9606.ENSP00000400341,FOXA2,463,"Hepatocyte nuclear factor 3-beta; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'- [AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). In embryonic development is required for notochord formation. Inv [...] " 9606.ENSP00000400365,LAMA2,3122,"Laminin subunit alpha-2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components." 9606.ENSP00000400376,ERAP2,960,"Endoplasmic reticulum aminopeptidase 2; Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic residues Arg and Lys." 9606.ENSP00000400391,ZNF146,292,Zinc finger protein 146; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000400433,HNRNPF,415,"Heterogeneous nuclear ribonucleoprotein F, N-terminally processed; Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Plays a role in the regulation of alternative splicing events. Binds G-rich sequences in pre-mRNAs and keeps target RNA in an unfolded state." 9606.ENSP00000400459,SNAP91,907,"Clathrin coat assembly protein AP180; Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60- 70 nm coats (By similarity); Belongs to the PICALM/SNAP91 family." 9606.ENSP00000400471,TMEM106C,250,Transmembrane protein 106C. 9606.ENSP00000400482,CMTM3,182,CKLF like MARVEL transmembrane domain containing 3; Belongs to the chemokine-like factor family. 9606.ENSP00000400500,THAP5,395,THAP domain-containing protein 5; Has sequence-specific DNA-binding activity and can function as transcriptional repressor (in vitro). May be a regulator of cell cycle: THAP5 overexpression in human cell lines causes cell cycle arrest at G2/M phase. 9606.ENSP00000400513,FASTKD1,847,"FAST kinase domain-containing protein 1, mitochondrial; Involved in the down-regulation of mitochondrial MT-ND3 mRNA levels which leads to decreased respiratory complex I abundance and activity." 9606.ENSP00000400533,CCL24,119,"C-C motif chemokine 24; Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3." 9606.ENSP00000400591,SNRPE,92,"Small nuclear ribonucleoprotein E; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development." 9606.ENSP00000400646,PNPT1,783,"Polyribonucleotide nucleotidyltransferase 1, mitochondrial; RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules. Require [...] " 9606.ENSP00000400669,IQCD,449,"Dynein regulatory complex protein 10; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes; Belongs to the DRC10 family." 9606.ENSP00000400717,GNA13,377,"Guanine nucleotide-binding protein subunit alpha-13; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG). GNA13-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway. Inhibits CDH1-mediated cell adhesion in process independent from Rho a [...] " 9606.ENSP00000400839,SLC35G2,412,Solute carrier family 35 member G2; May play a role in cell proliferation. 9606.ENSP00000400852,ZNF736,427,Zinc finger protein 736; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000400870,AARSD1,412,Alanyl-tRNA editing protein Aarsd1; Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala). 9606.ENSP00000400878,ZNF234,700,Zinc finger protein 234; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000400880,USP17L11,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 11; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000400882,CAPNS2,248,"Calpain small subunit 2; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity." 9606.ENSP00000400887,PPIP5K1,1433,"Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylate [...] " 9606.ENSP00000400892,TESPA1,521,"Protein TESPA1; Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of the LAT signalosome in thymocytes. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment." 9606.ENSP00000400894,PENK,267,"Met-enkephalin-Arg-Gly-Leu; Met- and Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress. PENK(114-133) and PENK(237-258) increase glutamate release in the striatum. PENK(114-133) decreases GABA concentration in the striatum; Belongs to the opioid neuropeptide precursor family." 9606.ENSP00000400906,UBE2L3,212,Ubiquitin conjugating enzyme E2 L3. 9606.ENSP00000400908,MYBPC1,1173,"Myosin-binding protein C, slow-type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F- actin and native thin filaments, and modifies the activity of actin- activated myosin ATPase. It may modulate muscle contraction or may play a more structural role; Belongs to the immunoglobulin superfamily. MyBP family." 9606.ENSP00000400921,SLAIN1,590,"SLAIN motif-containing protein 1; Microtubule plus-end tracking protein that might be involved in the regulation of cytoplasmic microtubule dynamics, microtubule organization and microtubule elongation; Belongs to the SLAIN motif-containing family." 9606.ENSP00000400932,SLC35G1,365,Solute carrier family 35 member G1; May play a role in intracellular calcium sensing and homeostasis. May act as a negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell. 9606.ENSP00000400997,ZNF780A,642,Zinc finger protein 780A; May be involved in transcriptional regulation. 9606.ENSP00000401010,CAPZB,301,"F-actin-capping protein subunit beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization." 9606.ENSP00000401018,GINS3,255,"DNA replication complex GINS protein PSF3; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. Belongs to the GINS3/PSF3 family." 9606.ENSP00000401023,HECTD2,780,Probable E3 ubiquitin-protein ligase HECTD2; Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. 9606.ENSP00000401076,BARGIN,605,Bargin; GTPase activating protein (GAP) which specifically converts GTP-bound RAC1 and CDC42 in their inactive GDP-bound form. The GAP activity is enhanced by the non-covalent binding of K-29 and K-48 polyubiquitin chains. 9606.ENSP00000401089,ANKRD34C,535,Ankyrin repeat domain 34C; Belongs to the ANKRD34 family. 9606.ENSP00000401112,SATB2,733,"DNA-binding protein SATB2; Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double- stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for th [...] " 9606.ENSP00000401115,SS18L2,77,SS18-like protein 2; SS18 like 2. 9606.ENSP00000401145,GAS2,313,Growth arrest-specific protein 2; May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity). 9606.ENSP00000401191,BUD23,298,Probable 18S rRNA (guanine-N(7))-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA. Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivat [...] 9606.ENSP00000401197,USP19,1419,Ubiquitin carboxyl-terminal hydrolase 19; Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ubiq [...] 9606.ENSP00000401237,NAA60,249,"N-alpha-acetyltransferase 60; N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol. Displays N-terminal acetyltransferase activity towards a range of N- terminal sequences including those starting with Met-Lys, Met-Val, Met- Ala and Met-Met. Required for normal chromosomal segregation during anaphase. May also show histone acetyltransferase activity; such results are however unclear in vivo and would require additional experimental evidences. Belongs to the ac [...] " 9606.ENSP00000401264,CTPS2,586,CTP synthase 2; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides. 9606.ENSP00000401277,CBLL1,491,"E3 ubiquitin-protein ligase Hakai; E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Its function in the WMM complex is unknown." 9606.ENSP00000401303,SHC1,584,"SHC-transforming protein 1; Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Isoform p46Shc and isoform p52Shc may thus function as initiators of the Ras signaling cascade in various non-neuronal systems. Isoform p66Shc does not mediate Ras activation, [...] " 9606.ENSP00000401306,FSIP2,6907,Fibrous sheath-interacting protein 2; Plays a role in spermatogenesis. 9606.ENSP00000401310,FRG2B,278,Protein FRG2-like-1; FSHD region gene 2 family member B. 9606.ENSP00000401328,PRSS48,328,Serine protease 48; Belongs to the peptidase S1 family. 9606.ENSP00000401335,C16orf90,182,Uncharacterized protein C16orf90; Chromosome 16 open reading frame 90. 9606.ENSP00000401338,PGAP6,771,"Post-GPI attachment to proteins factor 6; Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells. Also indirectly involved in the tr [...] " 9606.ENSP00000401371,TIA1,386,Nucleolysin TIA-1 isoform p40; Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis. 9606.ENSP00000401435,VPS53,832,"Vacuolar protein sorting-associated protein 53 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized tr [...] " 9606.ENSP00000401437,LDB3,732,LIM domain-binding protein 3; May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. 9606.ENSP00000401445,ERN1,977,"Serine/threonine-protein kinase/endoribonuclease IRE1; Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP. Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endor [...] " 9606.ENSP00000401470,RANGAP1,587,"Ran GTPase-activating protein 1; GTPase activator for RAN. Converts cytoplasmic GTP-bound RAN to GDP-bound RAN, which is essential for RAN-mediated nuclear import and export. Mediates dissociation of cargo from nuclear export complexes containing XPO1, RAN and RANBP2 after nuclear export." 9606.ENSP00000401477,TMEM232,657,Transmembrane protein 232. 9606.ENSP00000401498,C11orf94,98,Uncharacterized protein C11orf94; Chromosome 11 open reading frame 94. 9606.ENSP00000401502,SIGLEC6,453,"Sialic acid-binding Ig-like lectin 6; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface." 9606.ENSP00000401508,NAPRT,538,"Nicotinate phosphoribosyltransferase; Catalyzes the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D- ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate. Helps prevent cellular oxidative stress via its role in NAD biosynthesis ; Belongs to the NAPRTase family." 9606.ENSP00000401513,STRC,1775,Stereocilin; Essential to the formation of horizontal top connectors between outer hair cell stereocilia; Belongs to the stereocilin family. 9606.ENSP00000401514,DNAH1,4265,"Dynein heavy chain 1, axonemal; Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme ; Belongs to the dynein heavy chain family." 9606.ENSP00000401535,H7C1Q1_HUMAN,480,Rab-GAP TBC domain-containing protein. 9606.ENSP00000401536,RFX8,473,DNA-binding protein RFX8; May be a transcription factor; Belongs to the RFX family. 9606.ENSP00000401564,RANBP1,278,Ran-specific GTPase-activating protein; Plays a role in RAN-dependent nucleocytoplasmic transport. Alleviates the TNPO1-dependent inhibition of RAN GTPase activity and mediates the dissociation of RAN from proteins involved in transport into the nucleus (By similarity). Induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins. Promotes the disassembly of the complex formed by RAN and importin beta. Promotes dissociation of RAN from a complex with KPNA2 and CSE1L (By similarity). Required for normal mito [...] 9606.ENSP00000401566,ECD,677,Protein ecdysoneless homolog; Regulator of p53/TP53 stability and function. Inhibits MDM2- mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP. May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes. Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins. The cell cycle -regulating function may depend on its RUVBL1-mediated association with th [...] 9606.ENSP00000401596,GPBP1,493,Vasculin; Functions as a GC-rich promoter-specific transactivating transcription factor; Belongs to the vasculin family. 9606.ENSP00000401597,DTHD1,781,Death domain containing 1. 9606.ENSP00000401633,MYO16,1880,"Unconventional myosin-XVI; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis (By similarity); In the N-terminal section; belongs to the TRAFAC class myosin-kinesin [...] " 9606.ENSP00000401642,ZNF304,706,Zinc finger protein 304; Acts as transcriptional regulator and plays a role in gene silencing. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of several tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells. Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) by inducing trimethylation of 'Lys-27' of histone H3 (H3K27me3) in a Polycomb group (PcG) complexes-dependent manner. Associates at promoter r [...] 9606.ENSP00000401645,SERPINB2,415,Plasminogen activator inhibitor 2; Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1; Belongs to the serpin family. Ov-serpin subfamily. 9606.ENSP00000401678,MYOCD,986,Myocardin; Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity). 9606.ENSP00000401720,GK,559,Glycerol kinase; Key enzyme in the regulation of glycerol uptake and metabolism; Belongs to the FGGY kinase family. 9606.ENSP00000401749,P4HA3,604,Prolyl 4-hydroxylase subunit alpha-3; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family. 9606.ENSP00000401764,CITED1,219,Cbp/p300-interacting transactivator 1; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional c [...] 9606.ENSP00000401770,ATP5MPL,75,"ATP synthase subunit ATP5MPL, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the [...] " 9606.ENSP00000401831,ACSF2,640,"Medium-chain acyl-CoA ligase ACSF2, mitochondrial; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation." 9606.ENSP00000401853,HYAL2,473,Hyaluronidase-2; Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R. Belongs to the glycosyl hydrolase 56 family. 9606.ENSP00000401867,MXD3,206,Max dimerization protein 3; Transcriptional repressor. Binds with MAX to form a sequence- specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity). 9606.ENSP00000401878,KBTBD8,601,"Kelch repeat and BTB domain-containing protein 8; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification. The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification." 9606.ENSP00000401888,RAF1,668,"RAF proto-oncogene serine/threonine-protein kinase; Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal- regulated kin [...] " 9606.ENSP00000401907,BMPR1B,532,"Bone morphogenetic protein receptor type-1B; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction." 9606.ENSP00000401932,PRSS45P,308,"Serine protease 45, pseudogene." 9606.ENSP00000401946,TNRC6B,1833,Trinucleotide repeat-containing gene 6B protein; Plays a role in RNA-mediated gene silencing by both micro- RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA- dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes. 9606.ENSP00000401947,ZNF223,482,Zinc finger protein 223; May be involved in transcriptional regulation. 9606.ENSP00000401980,MAVS,540,"Mitochondrial antiviral-signaling protein; Required for innate immune defense against viruses. Acts downstream of DHX33, DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state. Upon viral infection, peroxisomal MAVS induces the rapid interferon-independent expression of defense factors that [...] " 9606.ENSP00000402020,C17orf58,97,UPF0450 protein C17orf58; Chromosome 17 open reading frame 58. 9606.ENSP00000402033,PDZD2,2839,Processed PDZ domain-containing protein 2; PDZ domain containing 2. 9606.ENSP00000402038,MTO1,732,"Protein MTO1 homolog, mitochondrial; Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs. Belongs to the MnmG family." 9606.ENSP00000402060,PVR,417,"Poliovirus receptor; Mediates NK cell adhesion and triggers NK cell effector functions. Binds two different NK cell receptors: CD96 and CD226. These interactions accumulates at the cell-cell contact site, leading to the formation of a mature immunological synapse between NK cell and target cell. This may trigger adhesion and secretion of lytic granules and IFN-gamma and activate cytoxicity of activated NK cells. May also promote NK cell-target cell modular exchange, and PVR transfer to the NK cell. This transfer is more important in some tumor cells expressing a lot of PVR, and may tri [...] " 9606.ENSP00000402084,WEE1,646,Wee1-like protein kinase; Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase wh [...] 9606.ENSP00000402092,SAMD3,544,Sterile alpha motif domain containing 3. 9606.ENSP00000402107,L3MBTL1,840,"Lethal(3)malignant brain tumor-like protein 1; Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/H1-4 at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p [...] " 9606.ENSP00000402152,SLC12A3,1030,"Solute carrier family 12 member 3; Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption. Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity)." 9606.ENSP00000402153,IQCJ,159,IQ motif containing J. 9606.ENSP00000402154,MEF2B,368,"Myocyte-specific enhancer factor 2B; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription." 9606.ENSP00000402219,VSIG1,423,V-set and immunoglobulin domain containing 1. 9606.ENSP00000402257,RUNX1T1,663,Protein CBFA2T1; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Can repress transactivation mediated by TCF12. Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal. 9606.ENSP00000402280,CDY2A,555,Testis-specific chromodomain protein Y 2; May have histone acetyltransferase activity. 9606.ENSP00000402297,LACTBL1,546,Putative beta-lactamase-like 1; Lactamase beta like 1; Belongs to the beta-lactamase family. 9606.ENSP00000402301,LAPTM4B,317,"Lysosomal-associated transmembrane protein 4B; Required for optimal lysosomal function. Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation. Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTOR [...] " 9606.ENSP00000402338,RPF2,306,Ribosome production factor 2 homolog; Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus. 9606.ENSP00000402346,COPG2,871,"Coatomer subunit gamma-2; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also i [...] " 9606.ENSP00000402355,CDRT15,188,CMT1A duplicated region transcript 15. 9606.ENSP00000402414,TRIM48,224,Tripartite motif containing 48; Belongs to the TRIM/RBCC family. 9606.ENSP00000402457,GRAMD1B,745,"Protein Aster-B; Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response [...] " 9606.ENSP00000402460,CLSTN2,955,Calsyntenin-2; May modulate calcium-mediated postsynaptic signals. 9606.ENSP00000402510,MTRR,698,"Methionine synthase reductase; Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects." 9606.ENSP00000402515,SMG1,3661,"Serine/threonine-protein kinase SMG1; Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense- mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction compl [...] " 9606.ENSP00000402527,SENP6,1112,"Sentrin-specific protease 6; Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly-SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Desumoylates also RPA1, [...] " 9606.ENSP00000402537,MTMR10,777,Myotubularin related protein 10; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily. 9606.ENSP00000402576,PPFIA4,1185,"Liprin-alpha-4; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (By similarity); Belongs to the liprin family. Liprin-alpha subfamily." 9606.ENSP00000402584,MDGA1,955,MAM domain-containing glycosylphosphatidylinositol anchor protein 1; Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2. 9606.ENSP00000402608,CPS1,1506,"Carbamoyl-phosphate synthase [ammonia], mitochondrial; Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell." 9606.ENSP00000402644,H0Y626_HUMAN,953,Uncharacterized protein. 9606.ENSP00000402653,WDR83,315,"WD repeat domain-containing protein 83; Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activato [...] " 9606.ENSP00000402661,TMEM177,311,Transmembrane protein 177; Plays a role in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation and is required for the stabilization of COX20 and the newly synthesized MT-CO2/COX2 protein. 9606.ENSP00000402674,BHMG1,638,Basic helix-loop-helix and HMG box domain-containing protein 1. 9606.ENSP00000402723,PTH1R,593,Parathyroid hormone/parathyroid hormone-related peptide receptor; Receptor for parathyroid hormone and for parathyroid hormone- related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. 9606.ENSP00000402756,NR2C2AP,167,Nuclear receptor 2C2-associated protein; May act as a repressor of NR2C2-mediated transactivation by suppressing the binding between NR2C2/TR4 and the TR4-response element in target genes; Belongs to the NR2C2AP family. 9606.ENSP00000402758,PMEL,668,"Melanocyte protein PMEL; Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity." 9606.ENSP00000402760,SLC22A5,581,"Solute carrier family 22 member 5; Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family." 9606.ENSP00000402790,TMEM235,223,Transmembrane protein 235; Belongs to the PMP-22/EMP/MP20 family. 9606.ENSP00000402797,KCNK4,393,"Potassium channel subfamily K member 4; Voltage-insensitive potassium channel. Channel opening is triggered by mechanical forces that deform the membrane. Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a ro [...] " 9606.ENSP00000402849,IFRD2,506,Interferon related developmental regulator 2. 9606.ENSP00000402855,TREML1,311,Trem-like transcript 1 protein; Cell surface receptor that may play a role in the innate and adaptive immune response. 9606.ENSP00000402861,PLCL1,1095,"Inactive phospholipase C-like protein 1; Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5- bisphosphate and phosphatidylinositol. Component in the phospho- dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C." 9606.ENSP00000402935,TBC1D5,817,TBC1 domain family member 5; May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its catalytic activity. Required for retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN); the function seems to require its catalytic activity. Involved in regulation of autophagy. May act as a molecular switch between endosomal and autophagosomal transport and is involved in reprogrammin [...] 9606.ENSP00000402949,CCNQ,228,Cyclin-Q; Activating cyclin for the cyclin-associated kinase CDK10. Belongs to the cyclin family. Cyclin-like FAM58 subfamily. 9606.ENSP00000403039,HP1BP3,553,"Heterochromatin protein 1-binding protein 3; Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity. Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo- resistance and self-renewal." 9606.ENSP00000403042,PHTF2,751,Putative homeodomain transcription factor 2; May play a role in transcription regulation. 9606.ENSP00000403067,FRMD5,570,FERM domain-containing protein 5; May be involved in regulation of cell migration. May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation. 9606.ENSP00000403077,VKORC1L1,177,"Vitamin K epoxide reductase complex subunit 1-like protein 1; Involved in vitamin K metabolism. Can reduce inactive vitamin K 2,3-epoxide to active vitamin K (in vitro), and may contribute to vitamin K-mediated protection against oxidative stress. Plays a role in vitamin K-dependent gamma-carboxylation of Glu residues in target proteins." 9606.ENSP00000403104,SIGIRR,410,"Single Ig IL-1-related receptor; Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Attenuates the recruitment of receptor- proximal signaling components to the TLR4 receptor, probably through an TIR-TIR domain interaction with TLR4. Through its extracellular domain interferes with the heterodimerization of Il1R1 and IL1RAP." 9606.ENSP00000403130,TMEM233,109,Transmembrane protein 233. 9606.ENSP00000403151,C10orf105,133,Uncharacterized protein C10orf105; Chromosome 10 open reading frame 105. 9606.ENSP00000403172,RPL6,288,60S ribosomal protein L6; Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL6 family. 9606.ENSP00000403208,MAP10,1047,Microtubule-associated protein 10; Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis. 9606.ENSP00000403210,EMC9,208,ER membrane protein complex subunit 9. 9606.ENSP00000403226,BHLHB9,547,Protein BHLHb9; May play a role in the control of cellular aging and survival; Belongs to the GPRASP family. 9606.ENSP00000403293,FBXO43,708,F-box only protein 43; Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable). 9606.ENSP00000403302,ANKRD36C,1778,Ankyrin repeat domain 36C. 9606.ENSP00000403304,TSPY1,308,Testis-specific Y-encoded protein 1; May be involved in sperm differentiation and proliferation. 9606.ENSP00000403310,SNRNP35,251,Small nuclear ribonucleoprotein U11/U12 subunit 35. 9606.ENSP00000403323,ARHGAP27,889,Rho GTPase-activating protein 27; Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity). 9606.ENSP00000403343,AAMP,435,"Angio-associated migratory cell protein; Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway." 9606.ENSP00000403362,AP2M1,460,"AP-2 complex subunit mu; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but i [...] " 9606.ENSP00000403396,FAM126A,521,"Hyccin; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P. Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system. May also have a role in the beta- catenin/Lef signaling pathway (Probable)." 9606.ENSP00000403397,ZDHHC17,632,"Palmitoyltransferase ZDHHC17; Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT. May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane. May play a role in Mg(2+) transport." 9606.ENSP00000403400,CCPG1,807,"Cell cycle progression protein 1; Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation. Belongs to the CCPG1 family." 9606.ENSP00000403441,ZNF30,624,Zinc finger protein 30; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000403453,ODF2,829,Outer dense fiber protein 2; Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to th [...] 9606.ENSP00000403459,GRB7,555,"Growth factor receptor-bound protein 7; Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phos [...] " 9606.ENSP00000403465,CC2D2A,1620,"Coiled-coil and C2 domain-containing protein 2A; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)." 9606.ENSP00000403495,LTA,205,"Lymphotoxin-alpha; Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM. In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and is cytotoxic for a wide range of tumor cells in vitro and in vivo." 9606.ENSP00000403524,BRAP,592,"BRCA1-associated protein; Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto-polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport." 9606.ENSP00000403536,GAMT,269,"Guanidinoacetate N-methyltransferase; Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor. Important in nervous system development." 9606.ENSP00000403566,C20orf173,202,Uncharacterized protein C20orf173; Chromosome 20 open reading frame 173. 9606.ENSP00000403614,MRPL55,164,Mitochondrial ribosomal protein L55. 9606.ENSP00000403644,DDC,480,"Aromatic-L-amino-acid decarboxylase; Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine; Belongs to the group II decarboxylase family." 9606.ENSP00000403645,TANGO2,317,Transport and golgi organization 2 homolog. 9606.ENSP00000403649,CGB8,165,Chorionic gonadotropin subunit beta 8. 9606.ENSP00000403660,MRGPRF,343,"Mas-related G-protein coupled receptor member F; Orphan receptor. May bind to a neuropeptide and may regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity); Belongs to the G-protein coupled receptor 1 family. Mas subfamily." 9606.ENSP00000403663,AP4M1,460,AP-4 complex subunit mu-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymm [...] 9606.ENSP00000403681,PRM2,140,"Basic nuclear protein HPI1; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex." 9606.ENSP00000403683,NABP1,204,"SOSS complex subunit B2; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-s [...] " 9606.ENSP00000403701,ARRB2,430,"Beta-arrestin-2; Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta- arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin- associated sorting proteins) and re [...] " 9606.ENSP00000403760,USP17L10,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 10; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000403768,AASS,926,"Alpha-aminoadipic semialdehyde synthase, mitochondrial; Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine- ketoglutarate reductase and saccharopine dehydrogenase activity, respectively." 9606.ENSP00000403802,FBXO10,956,"F-box only protein 10; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. The SCF(FBXO10) complex mediates ubiquitination and degradation of BCL2, an antiapoptotic protein, thereby playing a role in apoptosis by controlling the stability of BCL2." 9606.ENSP00000403888,DISC1,854,"Disrupted in schizophrenia 1 protein; Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt- mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, includ [...] " 9606.ENSP00000403910,DMAC2,263,Distal membrane-arm assembly complex protein 2; Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I. Belongs to the ATP synthase subunit s family. 9606.ENSP00000403925,TBCEL,424,Tubulin-specific chaperone cofactor E-like protein; Acts as a regulator of tubulin stability. 9606.ENSP00000403932,EFCAB3,490,EF-hand calcium-binding domain-containing protein 3; EF-hand calcium binding domain 3. 9606.ENSP00000403937,C11orf74,221,"Protein C11orf74; Seems to play a role in ciliary BBSome localization, maybe through interaction with IFT-A complex." 9606.ENSP00000403954,TENM1,2732,"Teneurin C-terminal-associated peptide; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity). [Ten-1 intracellular domain]: Induces gene transcription activation." 9606.ENSP00000403980,CLDN34,214,"Claudin-34; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000403982,ICA1,512,Islet cell autoantigen 1; May play a role in neurotransmitter secretion. 9606.ENSP00000403987,C15orf40,167,UPF0235 protein C15orf40; Chromosome 15 open reading frame 40. 9606.ENSP00000404042,TMED4,227,"Transmembrane emp24 domain-containing protein 4; Involved in vesicular protein trafficking, mainly in the early secretory pathway. targeting. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity)." 9606.ENSP00000404074,ZSCAN9,445,Zinc finger and SCAN domain-containing protein 9; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000404079,DNAJB5,462,DnaJ heat shock protein family member B5. 9606.ENSP00000404092,SMC6,1091,"Structural maintenance of chromosomes protein 6; Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Req [...] " 9606.ENSP00000404121,ILF3,898,"Interleukin enhancer-binding factor 3; RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back- splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs. As a consequence, participates in a wide range of transcriptional and post- transcriptional processes. Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of tar [...] " 9606.ENSP00000404122,IFT74,600,"Intraflagellar transport protein 74 homolog; Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis. Belongs to the IFT74 family." 9606.ENSP00000404127,ENSP00000404127,641,Novel zinc finger protein. 9606.ENSP00000404131,TGFA,166,Protransforming growth factor alpha; TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar. 9606.ENSP00000404151,CEP170B,1554,Centrosomal protein of 170 kDa protein B; Plays a role in microtubule organization. 9606.ENSP00000404190,RACGAP1,632,Rac GTPase-activating protein 1; Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Required for proper attachment of the midbody to the cell membrane during cytokinesis. Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity. Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogene [...] 9606.ENSP00000404203,CKMT2,419,"Creatine kinase S-type, mitochondrial; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa; Belongs to the ATP:guanido phosphotransferase family." 9606.ENSP00000404220,CCDC155,562,"Protein KASH5; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redunda [...] " 9606.ENSP00000404232,EFHC2,749,EF-hand domain-containing family member C2; EF-hand domain containing 2. 9606.ENSP00000404236,LILRA5,299,Leukocyte immunoglobulin-like receptor subfamily A member 5; May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition. 9606.ENSP00000404251,VGLL4,296,Transcription cofactor vestigial-like protein 4; May act as a specific coactivator for the mammalian TEFs. Belongs to the vestigial family. 9606.ENSP00000404265,TCAF2,919,TRPM8 channel-associated factor 2; [Isoform 2]: Negatively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration stimulation in a TRPM8-dependent manner. 9606.ENSP00000404281,PRR20E,221,Proline rich 20E. 9606.ENSP00000404296,PLEKHA5,1282,Pleckstrin homology domain containing A5. 9606.ENSP00000404304,ARMCX4,2290,Armadillo repeat containing X-linked 4; Belongs to the eutherian X-chromosome-specific Armcx family. 9606.ENSP00000404375,RPL36A,142,Ribosomal protein L36a. 9606.ENSP00000404381,DNAJB14,379,"DnaJ homolog subfamily B member 14; Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum- associated degradation (ERAD) pathway. Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers. While stabilization of na [...] " 9606.ENSP00000404432,LIMS4,117,LIM and senescent cell antigen-like-containing domain protein 3; LIM zinc finger domain containing 4. 9606.ENSP00000404438,SOHLH1,387,"Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1; Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)." 9606.ENSP00000404439,NPIPB4,1138,Nuclear pore complex interacting protein family member B4. 9606.ENSP00000404503,BBC3,261,"Bcl-2-binding component 3, isoforms 3/4; [Isoform 3]: Does not affect cell growth." 9606.ENSP00000404517,KRTAP21-3,58,"Keratin-associated protein 21-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000404570,MYH13,1938,Myosin-13; Fast twitching myosin mediating the high-velocity and low- tension contractions of specific striated muscles. 9606.ENSP00000404658,EZH1,747,"Histone-lysine N-methyltransferase EZH1; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase a [...] " 9606.ENSP00000404676,PGGT1B,377,"Geranylgeranyl transferase type-1 subunit beta; Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of proteins having the C-terminal sequence Cys- aliphatic-aliphatic-X. Known substrates include RAC1, RAC2, RAP1A and RAP1B." 9606.ENSP00000404705,NAALADL2,795,Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2; May be catalytically inactive; Belongs to the peptidase M28 family. M28B subfamily. 9606.ENSP00000404833,TAPBP,504,Tapasin; Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading). 9606.ENSP00000404843,HEMK1,338,MTRF1L release factor glutamine methyltransferase; N5-glutamine methyltransferase responsible for the methylation of the glutamine residue in the universally conserved GGQ motif of the mitochondrial translation release factor MTRF1L. 9606.ENSP00000404854,NDRG1,394,"Protein NDRG1; Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regul [...] " 9606.ENSP00000404860,SCHIP1,244,Schwannomin interacting protein 1. 9606.ENSP00000404911,PRICKLE4,384,Prickle planar cell polarity protein 4; Belongs to the prickle / espinas / testin family. 9606.ENSP00000404923,TECPR1,1165,"Tectonin beta-propeller repeat-containing protein 1; Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation; Belongs to the TECPR1 family." 9606.ENSP00000404991,TMEM120B,339,Transmembrane protein 120B; Necessary for efficient adipogenesis. Belongs to the TMEM120 family. 9606.ENSP00000405004,ACVR1,509,"Activin receptor type-1; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity); Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily." 9606.ENSP00000405012,WDR87,2912,WD repeat domain 87. 9606.ENSP00000405032,GSG1,339,Germ cell-specific gene 1 protein; May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum. 9606.ENSP00000405068,NOP14,857,Nucleolar protein 14; Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to the cytoplasm (By similarity); Belongs to the NOP14 family. 9606.ENSP00000405095,TAS2R39,338,"Taste receptor type 2 member 39; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000405111,DHX57,1386,Putative ATP-dependent RNA helicase DHX57; Probable ATP-binding RNA helicase; Belongs to the DEAD box helicase family. DEAH subfamily. 9606.ENSP00000405165,LIMS3,117,LIM zinc finger domain containing 3. 9606.ENSP00000405202,SPANXB1,103,Sperm protein associated with the nucleus on the X chromosome B1; SPANX family member B1. 9606.ENSP00000405210,SPANXN4,99,Sperm protein associated with the nucleus on the X chromosome N4; SPANX family member N4; Belongs to the SPAN-X family. 9606.ENSP00000405218,ZNF347,840,Zinc finger protein 347; May be involved in transcriptional regulation. 9606.ENSP00000405222,DCAF8L1,600,DDB1- and CUL4-associated factor 8-like protein 1; DDB1 and CUL4 associated factor 8 like 1; Belongs to the WD repeat DCAF8 family. 9606.ENSP00000405252,AKAP7,348,"A-kinase anchor protein 7 isoform gamma; Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium." 9606.ENSP00000405289,ZNF778,757,Zinc finger protein 778; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000405327,ETV1,477,ETS translocation variant 1; Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'; Belongs to the ETS family. 9606.ENSP00000405330,ESR1,595,"Estrogen receptor; Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE- independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial a [...] " 9606.ENSP00000405338,INPP5D,1189,"Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Able also to hydrolyzes the 5-phosphate of phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P3) and inositol 1,3,4,5-tetrakisphosphate. Acts as a negative regulator of B- cell antigen receptor signaling. Mediates signaling from the FC-gamma- RIIB receptor (FCGR2B), playing a centr [...] " 9606.ENSP00000405388,CA10,328,Carbonic anhydrase-related protein 10; Does not have a catalytic activity; Belongs to the alpha-carbonic anhydrase family. 9606.ENSP00000405405,PHLDB2,1253,Pleckstrin homology-like domain family B member 2; Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity). 9606.ENSP00000405423,HHATL,504,Protein-cysteine N-palmitoyltransferase HHAT-like protein; Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN; Belongs to the membrane-bound acyltransferase family. HHAT subfamily. 9606.ENSP00000405424,OXR1,874,Oxidation resistance protein 1; May be involved in protection from oxidative damage. 9606.ENSP00000405453,MSR1,469,"Macrophage scavenger receptor types I and II; Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL). Isoform III does not internalize acetylated LDL." 9606.ENSP00000405456,MDGA2,956,MAM domain-containing glycosylphosphatidylinositol anchor protein 2; May be involved in cell-cell interactions. 9606.ENSP00000405482,SVOPL,492,Putative transporter SVOPL; SVOP like; Belongs to the major facilitator superfamily. 9606.ENSP00000405514,PPP1R9A,1374,Neurabin-1; Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity). 9606.ENSP00000405573,GPI,597,"Glucose-6-phosphate isomerase; In the cytoplasm, catalyzes the conversion of glucose-6- phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis. Besides it's role as a glycolytic enzyme, also acts as a secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility. Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons. It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion." 9606.ENSP00000405574,TBL1XR1,514,"F-box-like/WD repeat-containing protein TBL1XR1; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation; Belongs to the WD repeat EBI family." 9606.ENSP00000405577,CLMP,373,CXADR-like membrane protein; May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development. 9606.ENSP00000405620,DHX30,1194,"ATP-dependent RNA helicase DHX30; RNA-dependent helicase. Plays an important role in the assembly of the mitochondrial large ribosomal subunit. Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA. Involved in nervous system development and differentiation through its involvement in the up- regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity). Belongs to the DEAD box helicase family. DEAH subfamily." 9606.ENSP00000405635,CNEP1R1,142,Nuclear envelope phosphatase-regulatory subunit 1; Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplet [...] 9606.ENSP00000405674,NOL7,257,Nucleolar protein 7. 9606.ENSP00000405699,ZNF837,531,Zinc finger protein 837; May be involved in transcriptional regulation. 9606.ENSP00000405726,CDC45,598,Cell division control protein 45 homolog; Required for initiation of chromosomal DNA replication; Belongs to the CDC45 family. 9606.ENSP00000405738,ESRP1,681,"Epithelial splicing regulatory protein 1; mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2. Regulates splicing and expression of genes [...] " 9606.ENSP00000405812,SLC4A8,1093,Electroneutral sodium bicarbonate exchanger 1; Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity. 9606.ENSP00000405841,RXFP1,784,Relaxin receptor 1; Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000405890,PBX1,430,"Pre-B-cell leukemia transcription factor 1; Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhanc [...] " 9606.ENSP00000405899,AQP12A,307,Aquaporin-12A; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes; Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily. 9606.ENSP00000405926,TMED7,224,"Transmembrane emp24 domain-containing protein 7; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications." 9606.ENSP00000405950,PNCK,426,Calcium/calmodulin-dependent protein kinase type 1B; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity). 9606.ENSP00000405963,RASGRF1,1273,Ras-specific guanine nucleotide-releasing factor 1; Promotes the exchange of Ras-bound GDP by GTP. 9606.ENSP00000405965,SUMO2,95,"Small ubiquitin-related modifier 2; Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2, CBX4 or ZNF451. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Polyme [...] " 9606.ENSP00000405969,ACBD4,341,Acyl-CoA-binding domain-containing protein 4; Binds medium- and long-chain acyl-CoA esters and may function as an intracellular carrier of acyl-CoA esters. 9606.ENSP00000405987,LRRD1,860,Leucine rich repeats and death domain containing 1. 9606.ENSP00000406012,IFT140,1462,"Intraflagellar transport protein 140 homolog; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity)." 9606.ENSP00000406022,UNC5C,931,Netrin receptor UNC5C; Receptor for netrin required for axon guidance (By similarity). Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). NTN1/Netrin-1 binding might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion. Axon repulsion in growth cones may also be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Might also collaborate with DSCAM in NTN1-mediated axon repulsion independently of D [...] 9606.ENSP00000406026,SH2D5,423,SH2 domain-containing protein 5; May be involved in synaptic plasticity regulation through the control of Rac-GTP levels. 9606.ENSP00000406027,EPM2AIP1,607,EPM2A interacting protein 1. 9606.ENSP00000406037,KAT8,467,Histone acetyltransferase KAT8; Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. Can also acetylate TP53/p53 at 'Lys-120'. 9606.ENSP00000406047,TSGA13,275,Testis-specific gene 13 protein; Testis specific 13. 9606.ENSP00000406050,HTR3E,482,"5-hydroxytryptamine receptor 3E; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand- gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3E sub- subfamily." 9606.ENSP00000406052,TDRD5,1035,"Tudor domain-containing protein 5; Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly (By similarity)." 9606.ENSP00000406157,PAPSS2,619,"Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2; Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have [...] " 9606.ENSP00000406162,PRMT1,371,"Protein arginine N-methyltransferase 1; Arginine methyltransferase that methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues present in proteins such as ESR1, histone H2, H3 and H4, ILF3, HNRNPA1, HNRNPD, NFATC2IP, SUPT5H, TAF15, EWS, HABP4 and SERBP1. Constitutes the main enzyme that mediates monomethylation and asymmetric dimethylation of histone H4 'Arg-4' (H4R3me1 and H4R3me2a, respectively), a specific tag for epigenetic transcriptional activation. May be involved in the regulation of TAF15 transcriptional activity, act as an activator of estr [...] " 9606.ENSP00000406164,GMNC,334,Geminin coiled-coil domain-containing protein 1; Regulator of DNA replication. Promotes initiation of chromosomal DNA replication by mediating TOPBP1- and CDK2-dependent recruitment of CDC45L onto replication origins (By similarity). 9606.ENSP00000406191,TRPV4,871,"Transient receptor potential cation channel subfamily V member 4; Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by heat, low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin- dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in t [...] " 9606.ENSP00000406197,PAQR8,354,"Membrane progestin receptor beta; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(i) mediated pathway. May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone. Belongs to the ADIPOR family." 9606.ENSP00000406201,ZNF160,818,Zinc finger protein 160; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000406209,EPN1,662,"Epsin-1; Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis." 9606.ENSP00000406220,SLC13A5,568,Solute carrier family 13 member 5; High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol. 9606.ENSP00000406229,FAT1,4588,"Protocadherin Fat 1, nuclear form; Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact." 9606.ENSP00000406261,ENPP3,875,"Ectonucleotide pyrophosphatase/phosphodiesterase family member 3; Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP. Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By simila [...] " 9606.ENSP00000406286,ZBTB7B,573,"Zinc finger and BTB domain-containing protein 7B; Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. Development of immature T-cell precursors (thymocytes) to either the CD4 helper or CD8 killer T-cell lineages correlates precisely with their T-cell receptor specificity for major histocompatibility complex class II or class I mo [...] " 9606.ENSP00000406293,TCEA3,348,"Transcription elongation factor A protein 3; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus." 9606.ENSP00000406318,ZNF880,577,Zinc finger protein 880. 9606.ENSP00000406367,ADGRA2,1338,"Adhesion G protein-coupled receptor A2; Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B). Plays a key role in Wnt7-specific responses, such as endothelial cell sprouting and migration in the forebrain and neural tube, and establishment of the blood-brain barrier (By similarity). Acts as a Wnt7-specific coactivator of canonical Wnt signaling: required to deliver RECK-bound Wnt7 to frizzled by assembling a higher-order RECK-ADGRA2-Fzd-LRP5-LRP6 complex. ADGRA2-tethering function does not rely [...] " 9606.ENSP00000406463,DNAJC7,494,"DnaJ homolog subfamily C member 7; Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity)." 9606.ENSP00000406472,CDK15,429,Cyclin-dependent kinase 15; Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at 'Thr-34'. 9606.ENSP00000406478,LILRB5,591,Leukocyte immunoglobulin-like receptor subfamily B member 5; May act as receptor for class I MHC antigens. 9606.ENSP00000406482,THSD7A,1657,"Thrombospondin type-1 domain-containing protein 7A, soluble form; [Thrombospondin type-1 domain-containing protein 7A]: Plays a role in actin cytoskeleton rearrangement." 9606.ENSP00000406490,PMS1,932,PMS1 protein homolog 1; Probably involved in the repair of mismatches in DNA. 9606.ENSP00000406541,C11orf21,178,Uncharacterized protein C11orf21; Chromosome 11 open reading frame 21. 9606.ENSP00000406546,SLC23A3,618,Solute carrier family 23 member 3; Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily. 9606.ENSP00000406549,TAF1,1895,Transcription initiation factor TFIID subunit 1; Largest component and core scaffold of the TFIID basal transcription factor complex. Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA-binding activity. Essential for progression of the G1 phase of the cell cycle. Exhibits histone acetyltransferase activity towards histones H3 and H4. Belongs to the TAF1 family. 9606.ENSP00000406577,CKMT1A,417,"Creatine kinase, mitochondrial 1A." 9606.ENSP00000406598,HPF1,346,"Histone PARylation factor 1; Acts as a cofactor for serine ADP-ribosylation by conferring serine specificity on PARP1 and PARP2: interacts with PARP1 and PARP2 and is able to change amino acid specificity toward serine. Promotes histone serine ADP- ribosylation in response to DNA damage, limiting DNA damage-induced PARP1 hyper-automodification, and ensuring genome stability. Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage. HPF1 also promotes tyrosine ADP-ribosylation, probably by conferring tyrosine specificity [...] " 9606.ENSP00000406665,RNF224,156,Ring finger protein 224. 9606.ENSP00000406674,MOGAT1,335,2-acylglycerol O-acyltransferase 1; Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity). Belongs to the diacylglycerol acyltransferase family. 9606.ENSP00000406718,C5orf67,127,Uncharacterized protein C5orf67; Chromosome 5 putative open reading frame 67. 9606.ENSP00000406723,GTF2IRD2,949,General transcription factor II-I repeat domain-containing protein 2A; GTF2I repeat domain containing 2. 9606.ENSP00000406773,DCD,121,"Survival-promoting peptide; DCD-1 displays antimicrobial activity thereby limiting skin infection by potential pathogens in the first few hours after bacterial colonization. Highly effective against E.coli, E.faecalis, S.aureus and C.albicans. Optimal pH and salt concentration resemble the conditions in sweat. Also exhibits proteolytic activity, cleaving on the C- terminal side of Arg and, to a lesser extent, Lys residues." 9606.ENSP00000406861,MUC6,2439,Mucin-6; May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis. 9606.ENSP00000406885,TMEM41A,264,Transmembrane protein 41A. 9606.ENSP00000406909,PHOSPHO1,292,Phosphoethanolamine/phosphocholine phosphatase; Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization. 9606.ENSP00000406925,ODAPH,176,Odontogenesis associated phosphoprotein; May promote nucleation of hydroxyapatite. 9606.ENSP00000406933,NT5DC2,557,5'-nucleotidase domain containing 2. 9606.ENSP00000406970,LAX1,398,Lymphocyte transmembrane adapter 1; Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and BCR (B-cell antigen receptor)-mediated signaling in B-cells. 9606.ENSP00000406986,GPR6,377,G-protein coupled receptor 6; Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). 9606.ENSP00000407039,ZNF418,697,Zinc finger protein 418; Transcriptional repressor. 9606.ENSP00000407067,FAM86B1,296,Putative protein N-methyltransferase FAM86B1; Family with sequence similarity 86 member B1. 9606.ENSP00000407087,NIPAL2,383,NIPA-like protein 2; NIPA like domain containing 2; Belongs to the NIPA family. 9606.ENSP00000407112,NAPEPLD,393,"N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D; Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs) and phosphatidic acid. Responsible for the generation of these bioactive fatty acid ethanolamides (FAEs), including anandamide (N-arachidonoylethanolamine), the ligand of cannabinoid and vanilloid receptors. As a regulator of lipid metabolism in the adipose tissue, mediates the crosstalk between adipocytes, gut microbiota and immune cells to control body temperature and weight. In particular, regulates energy homeostasis by promoting col [...] " 9606.ENSP00000407118,SYBU,663,Syntabulin; Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development. 9606.ENSP00000407130,ZNF410,516,Zinc finger protein 410; Transcription factor that activates transcription of matrix- remodeling genes such as MMP1 during fibroblast senescence. 9606.ENSP00000407182,TNPO2,897,"Transportin-2; Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hy [...] " 9606.ENSP00000407193,ARSG,525,"Arylsulfatase G; Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate." 9606.ENSP00000407213,IQCA1,830,"Dynein regulatory complex protein 11; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes." 9606.ENSP00000407301,GASK1A,575,Golgi associated kinase 1A; Belongs to the GASK family. 9606.ENSP00000407323,EBNA1BP2,361,Probable rRNA-processing protein EBP2; Required for the processing of the 27S pre-rRNA. 9606.ENSP00000407336,NDUFB3,98,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000407353,LMNTD1,409,Lamin tail domain containing 1. 9606.ENSP00000407422,MUC7,377,"Mucin-7; May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili." 9606.ENSP00000407442,HIPK1,1210,"Homeodomain-interacting protein kinase 1; Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by [...] " 9606.ENSP00000407487,UNC45A,944,Protein unc-45 homolog A; Acts as co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity). 9606.ENSP00000407497,SPINK8,97,Serine protease inhibitor Kazal-type 8; Probable serine protease inhibitor. 9606.ENSP00000407509,PNPLA6,1375,"Neuropathy target esterase; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy." 9606.ENSP00000407521,NUTM2E,878,NUT family member 2E; Belongs to the NUT family. 9606.ENSP00000407545,ZBTB22,634,Zinc finger and BTB domain-containing protein 22; May be involved in transcriptional regulation. 9606.ENSP00000407546,CHRNA7,531,"Neuronal acetylcholine receptor subunit alpha-7; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin." 9606.ENSP00000407552,GAS7,476,Growth arrest-specific protein 7; May play a role in promoting maturation and morphological differentiation of cerebellar neurons. 9606.ENSP00000407560,SLC25A44,322,"Solute carrier family 25 member 44; Mitochondrial solute transporter which transports branched- chain amino acid (BCAA; valine, leucine and isoleucine) into mitochondria in brown adipose tissue (BAT) (By similarity). BAT is involved in BCAA catabolism and actively utilizes BCAA in the mitochondria for thermogenesis." 9606.ENSP00000407586,HRAS,189,"GTPase HRas, N-terminally processed; Involved in the activation of Ras protein signal transduction. Ras proteins bind GDP/GTP and possess intrinsic GTPase activity." 9606.ENSP00000407592,KCNMB2,235,"Calcium-activated potassium channel subunit beta-2; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB2 subfamily." 9606.ENSP00000407613,METTL6,284,tRNA N(3)-methylcytidine methyltransferase METTL6; S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Ser); Belongs to the methyltransferase superfamily. METL family. 9606.ENSP00000407653,PRR22,422,Proline-rich protein 22; Proline rich 22. 9606.ENSP00000407685,TNXB,673,Tenascin-X; Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors. 9606.ENSP00000407726,VWA5A,786,"Von Willebrand factor A domain-containing protein 5A; May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis." 9606.ENSP00000407761,ACOXL,580,Acyl-coenzyme A oxidase-like protein; acyl-CoA oxidase like; Belongs to the acyl-CoA oxidase family. 9606.ENSP00000407763,CCDC122,273,Coiled-coil domain containing 122. 9606.ENSP00000407818,USP46,366,"Ubiquitin carboxyl-terminal hydrolase 46; Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2." 9606.ENSP00000407822,CNTN6,1028,Contactin-6; Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity); Belongs to the immunoglobulin superfamily. Contactin family. 9606.ENSP00000407978,NKX1-1,411,NK1 transcription factor-related protein 1; NK1 homeobox 1; Belongs to the NK-1 homeobox family. 9606.ENSP00000408002,VRK2,508,"Serine/threonine-protein kinase VRK2; Serine/threonine kinase that regulates several signal transduction pathways. Isoform 1 modulates the stress response to hypoxia and cytokines, such as interleukin-1 beta (IL1B) and this is dependent on its interaction with MAPK8IP1, which assembles mitogen- activated protein kinase (MAPK) complexes. Inhibition of signal transmission mediated by the assembly of MAPK8IP1-MAPK complexes reduces JNK phosphorylation and JUN-dependent transcription. Phosphorylates 'Thr-18' of p53/TP53, histone H3, and may also phosphorylate MAPK8IP1. Phosphorylates BANF1 [...] " 9606.ENSP00000408005,SLC9A3R2,337,Na(+)/H(+) exchange regulatory cofactor NHE-RF2; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus. 9606.ENSP00000408025,FBP1,338,"Fructose-1,6-bisphosphatase 1; Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating neuropeptides and thus seems to provide a feedback mechanism [...] " 9606.ENSP00000408058,METTL11B,283,Alpha N-terminal protein methyltransferase 1B; Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif. May activate NTMT1 by priming its substrates for trimethylation. 9606.ENSP00000408132,GOLGA6B,693,Golgin A6 family member B; Belongs to the GOLGA6 family. 9606.ENSP00000408146,HLA-DPB1,258,"HLA class II histocompatibility antigen, DP beta 1 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] " 9606.ENSP00000408204,CT47A9,288,Cancer/testis antigen family 47 member A9. 9606.ENSP00000408205,LPAR4,370,"Lysophosphatidic acid receptor 4; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The rank order of potency for agonists of this receptor is 1- oleoyl- > 1-stearoyl- > 1-palmitoyl- > 1-myristoyl- > 1-alkyl- > 1- alkenyl-LPA." 9606.ENSP00000408288,PPP1R3E,279,Protein phosphatase 1 regulatory subunit 3E; Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis. 9606.ENSP00000408292,TRIM32,653,E3 ubiquitin-protein ligase TRIM32; Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May ubiquitinate BBS2. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo; Belongs to the TRIM/RBCC family. 9606.ENSP00000408295,RFC5,340,Replication factor C subunit 5; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. 9606.ENSP00000408342,PRAM1,670,PML-RARA-regulated adapter molecule 1; May be involved in myeloid differentiation. May be involved in integrin signaling in neutrophils. Binds to PtdIns(4)P. 9606.ENSP00000408367,CHTF8,121,"Chromosome transmission fidelity protein 8 homolog; Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated the presence of primed DNA, replication protein A (RPA) and proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loa [...] " 9606.ENSP00000408410,H7C2Y5_HUMAN,167,DnaJ_C domain-containing protein. 9606.ENSP00000408411,LAMP2,411,"Lysosome-associated membrane glycoprotein 2; Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live. Functions by binding target proteins, such as GAPDH and MLLT11, and targeting them for lysosomal degradation. Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy. Cells that lack LAMP2 express normal levels o [...] " 9606.ENSP00000408526,IMPA1,336,"Inositol monophosphatase 1; Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4- diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta- glycerophosphate, and 2'-AMP as substrates." 9606.ENSP00000408527,STPG4,248,Protein STPG4; Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC). 9606.ENSP00000408581,TMEM132D,1099,Transmembrane protein 132D; May serve as a cell-surface marker for oligodendrocyte differentiation. 9606.ENSP00000408598,PABPN1L,278,Embryonic polyadenylate-binding protein 2; Binds the poly(A) tail of mRNA. 9606.ENSP00000408617,HDAC9,1069,"Histone deacetylase 9; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription; Belongs to the histone deacetylase family. HD type 2 subfamily." 9606.ENSP00000408695,PRKCA,672,"Protein kinase C alpha type; Calcium-activated, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell [...] " 9606.ENSP00000408697,NUGGC,796,"Nuclear GTPase SLIP-GC; Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA. Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity)." 9606.ENSP00000408792,SP8,508,Transcription factor Sp8; Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity); Belongs to the Sp1 C2H2-type zinc-finger protein family. 9606.ENSP00000408910,DCTN2,406,"Dynactin subunit 2; Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development." 9606.ENSP00000408979,KIF5A,1032,"Kinesin heavy chain isoform 5A; Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation." 9606.ENSP00000409007,GDNF,228,Glial cell line-derived neurotrophic factor; Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high- affinity dopamine uptake; Belongs to the TGF-beta family. GDNF subfamily. 9606.ENSP00000409016,TBRG1,411,"Transforming growth factor beta regulator 1; Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability; Belongs to the TBRG1 family." 9606.ENSP00000409107,ZBTB42,422,Zinc finger and BTB domain-containing protein 42; Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes. 9606.ENSP00000409126,ANO6,931,"Anoctamin-6; Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium- dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chlori [...] " 9606.ENSP00000409131,WSB2,421,WD repeat and SOCS box-containing protein 2; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000409225,C10orf55,151,Uncharacterized protein C10orf55; Chromosome 10 open reading frame 55. 9606.ENSP00000409231,TRAPPC13,418,Trafficking protein particle complex 13; Belongs to the TRAPPC13 family. 9606.ENSP00000409279,OTUD4,1049,"OTU domain-containing protein 4; Deubiquitinase which hydrolyzes the isopeptide bond between the ubiquitin C-terminus and the lysine epsilon-amino group of the target protein. May negatively regulate inflammatory and pathogen recognition signaling in innate immune response. Upon phosphorylation at Ser-202 and Ser-204 residues, via IL-1 receptor and Toll-like receptor signaling pathway, specifically deubiquitinates 'Lys-63'-polyubiquitinated MYD88 adapter protein triggering down-regulation of NF-kappa-B-dependent transcription of inflammatory mediators. Independently of the catalytic ac [...] " 9606.ENSP00000409315,RBM18,190,RNA binding motif protein 18. 9606.ENSP00000409316,OR4F29,312,Olfactory receptor family 4 subfamily F member 29. 9606.ENSP00000409318,ZNF230,474,Zinc finger protein 230; May be involved in transcriptional regulation. 9606.ENSP00000409346,CISH,275,"Cytokine-inducible SH2-containing protein; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by suppressing its tyrosine phosphorylation. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasom [...] " 9606.ENSP00000409373,IQCF3,154,IQ motif containing F3. 9606.ENSP00000409378,CHRM4,479,"Muscarinic acetylcholine receptor M4; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase; Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM4 sub-subfamily." 9606.ENSP00000409382,CRACR2A,731,"EF-hand calcium-binding domain-containing protein 4B; Ca(2+)-binding protein that plays a key role in store- operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from OR [...] " 9606.ENSP00000409423,FAM47E,393,Protein FAM47E; Family with sequence similarity 47 member E. 9606.ENSP00000409463,ZNF740,193,Zinc finger protein 740; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000409542,CCDC188,402,Coiled-coil domain containing 188. 9606.ENSP00000409544,CLDN4,209,"Claudin-4; Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000409555,HERPUD1,391,Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein; Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway. 9606.ENSP00000409581,ARRB1,418,"Beta-arrestin-1; Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta- arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin- associated sorting proteins) and re [...] " 9606.ENSP00000409594,ZFYVE27,416,Protrudin; Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport. Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA-dependent manner. Contributes to both the formation and stabilization of the tubular ER network. Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections. Acts as an adapter protein and facilitates the interaction of KIF5A w [...] 9606.ENSP00000409652,ZNF766,468,Zinc finger protein 766; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000409666,SUMO3,141,Small ubiquitin like modifier 3. 9606.ENSP00000409667,SYNJ1,1612,"Synaptojanin-1; Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)- bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity). Belongs to the synaptojanin family." 9606.ENSP00000409738,TMBIM1,311,Protein lifeguard 3; Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling; Belongs to the BI1 family. LFG subfamily. 9606.ENSP00000409799,RPP21,162,"Ribonuclease P protein subunit p21; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends." 9606.ENSP00000409832,GAGE12J,117,G antigen 12J. 9606.ENSP00000409879,TMEM159,185,Promethin; Transmembrane protein 159; Belongs to the TMEM159 family. 9606.ENSP00000409896,CCNB1IP1,277,"E3 ubiquitin-protein ligase CCNB1IP1; Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non- crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates [...] " 9606.ENSP00000409906,USP53,1073,Inactive ubiquitin carboxyl-terminal hydrolase 53; Tight junction-associated protein that is involved in the survival of auditory hair cells and hearing. Maybe by modulating the barrier properties and mechanical stability of tight junctions (By similarity). Has no peptidase activity. 9606.ENSP00000409924,PTGES3L-AARSD1,586,PTGES3L-AARSD1 readthrough. 9606.ENSP00000409937,C2CD6,1820,C2 calcium-dependent domain-containing protein 6; C2 calcium dependent domain containing 6. 9606.ENSP00000409950,ANHX,379,Anomalous homeobox. 9606.ENSP00000409952,VPS52,723,"Vacuolar protein sorting-associated protein 52 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized tr [...] " 9606.ENSP00000409964,CFAP97,532,Cilia and flagella associated protein 97. 9606.ENSP00000410007,FBXO46,603,F-box only protein 46; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000410024,PHGR1,82,"Proline, histidine and glycine rich 1." 9606.ENSP00000410041,SKIDA1,908,SKI/DACH domain containing 1; Belongs to the DACH/dachshund family. 9606.ENSP00000410042,BRD1,1189,Bromodomain-containing protein 1; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. 9606.ENSP00000410059,EEF1D,647,"Elongation factor 1-delta; [Isoform 1]: EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome; Belongs to the EF-1-beta/EF-1-delta family." 9606.ENSP00000410083,VEZT,779,"Vezatin; Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process; Belongs to the vezatin family." 9606.ENSP00000410111,TBC1D26,250,TBC1 domain family member 26; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000410157,ABTB2,1025,Ankyrin repeat and BTB/POZ domain-containing protein 2; May be involved in the initiation of hepatocyte growth. 9606.ENSP00000410186,AK9,1911,"Adenylate kinase 9; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP." 9606.ENSP00000410198,ZSCAN2,614,Zinc finger and SCAN domain-containing protein 2; May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis. 9606.ENSP00000410216,POC5,575,"Centrosomal protein POC5; Essential for the assembly of the distal half of centrioles, required for centriole elongation; Belongs to the POC5 family." 9606.ENSP00000410242,IGF2BP2,605,Insulin-like growth factor 2 mRNA-binding protein 2; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binding is isoform- specific. Binds to beta-actin/ACTB and MYC transcripts. 9606.ENSP00000410269,TMEM176B,270,Transmembrane protein 176B; May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity). 9606.ENSP00000410294,FGFR2,822,"Fibroblast growth factor receptor 2; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell p [...] " 9606.ENSP00000410309,PDE1A,545,"Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a higher affinity for cGMP than for cAMP." 9606.ENSP00000410339,TOMM40,361,Mitochondrial import receptor subunit TOM40 homolog; Channel-forming protein essential for import of protein precursors into mitochondria; Belongs to the Tom40 family. 9606.ENSP00000410396,CMSS1,279,Protein CMSS1; Cms1 ribosomal small subunit homolog. 9606.ENSP00000410400,CT47A11,288,Cancer/testis antigen family 47 member A11. 9606.ENSP00000410402,MAP2K4,410,"Dual specificity mitogen-activated protein kinase kinase 4; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylati [...] " 9606.ENSP00000410409,TAF1D,278,"TATA box-binding protein-associated factor RNA polymerase I subunit D; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits." 9606.ENSP00000410446,TRIM26,539,Tripartite motif-containing protein 26; E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1; Belongs to the TRIM/RBCC family. 9606.ENSP00000410452,STMN1,174,Stathmin; Involved in the regulation of the microtubule (MT) filament system by destabilizing microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser-16 may be required for axon formation during neurogenesis. Involved in the control of the learned and innate fear (By similarity); Belongs to the stathmin family. 9606.ENSP00000410466,ZNF90,601,Zinc finger protein 90; May be involved in transcriptional regulation. 9606.ENSP00000410470,FAHD2B,314,Fumarylacetoacetate hydrolase domain-containing protein 2B; May have hydrolase activity. 9606.ENSP00000410481,LTB,244,Lymphotoxin-beta; Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional. 9606.ENSP00000410533,RNF223,249,Ring finger protein 223. 9606.ENSP00000410545,ZNF814,855,Zinc finger protein 814. 9606.ENSP00000410552,SIMC1,891,SUMO-interacting motif-containing protein 1; SUMO interacting motifs containing 1. 9606.ENSP00000410561,CDK3,305,"Cyclin-dependent kinase 3; Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0-G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1- [...] " 9606.ENSP00000410584,CELF4,486,CUGBP Elav-like family member 4; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic site [...] 9606.ENSP00000410603,FAM131B,360,Protein FAM131B; Family with sequence similarity 131 member B; Belongs to the FAM131 family. 9606.ENSP00000410689,AFAP1,814,"Actin filament-associated protein 1; Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells." 9606.ENSP00000410715,SFRP4,346,Secreted frizzled-related protein 4; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake. 9606.ENSP00000410732,GABRG2,515,"Gamma-aminobutyric acid receptor subunit gamma-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By si [...] " 9606.ENSP00000410734,ZNF562,426,Zinc finger protein 562; May be involved in transcriptional regulation. 9606.ENSP00000410746,DOCK4,1975,"Dedicator of cytokinesis protein 4; Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP." 9606.ENSP00000410758,LSM5,91,"U6 snRNA-associated Sm-like protein LSm5; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA." 9606.ENSP00000410759,ATXN7L1,861,Ataxin-7-like protein 1; Ataxin 7 like 1. 9606.ENSP00000410768,FAM135A,1515,Protein FAM135A; Family with sequence similarity 135 member A; Belongs to the FAM135 family. 9606.ENSP00000410769,CNBP,179,"Cellular nucleic acid-binding protein; Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression." 9606.ENSP00000410798,FCGRT,365,"IgG receptor FcRn large subunit p51; Cell surface receptor that transfers passive humoral immunity from the mother to the newborn. Binds to the Fc region of monomeric immunoglobulin gamma and mediates its selective uptake from milk. IgG in the milk is bound at the apical surface of the intestinal epithelium. The resultant FcRn-IgG complexes are transcytosed across the intestinal epithelium and IgG is released from FcRn into blood or tissue fluids. Throughout life, contributes to effective humoral immunity by recycling IgG and extending its half-life in the circulation. Mechanistically, [...] " 9606.ENSP00000410811,FIGNL1,674,"Fidgetin-like protein 1; Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX-dependent manner. May regulate osteoblast proliferation and differentiation. May play a role in the control of male meiosis dynamic (By similarity); Belongs to the AAA ATPase family." 9606.ENSP00000410815,B4E1Z4_HUMAN,1266,"cDNA FLJ55673, highly similar to Complement factor B; Belongs to the peptidase S1 family." 9606.ENSP00000410818,MAD2L1BP,306,MAD2L1-binding protein; May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex. Belongs to the MAD2L1BP family. 9606.ENSP00000410833,GBE1,702,"1,4-alpha-glucan-branching enzyme; Required for normal glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable); Belongs to the glycosyl hydrolase 13 family. GlgB subfamily." 9606.ENSP00000410852,TMEM132C,1108,Transmembrane protein 132C. 9606.ENSP00000410858,NHLRC4,123,NHL-repeat-containing protein 4; NHL repeat containing 4. 9606.ENSP00000410862,RUNDC3A,446,RUN domain-containing protein 3A; May act as an effector of RAP2A in neuronal cells. Belongs to the RUNDC3 family. 9606.ENSP00000410890,ZNF783,546,Protein ZNF783; May be involved in transcriptional regulation. 9606.ENSP00000410910,MUSTN1,82,Musculoskeletal embryonic nuclear protein 1; May be involved in the development and regeneration of the musculoskeletal system; Belongs to the MUSTANG family. 9606.ENSP00000410926,LMLN,692,Leishmanolysin-like peptidase; Metalloprotease. 9606.ENSP00000410943,TSPYL4,414,Testis-specific Y-encoded-like protein 4; TSPY like 4. 9606.ENSP00000410964,ERLIN1,348,"Erlin-1; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5- trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex ; Belongs to the band 7/mec-2 family." 9606.ENSP00000410992,MOGS,837,"Mannosyl-oligosaccharide glucosidase; Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner; Belongs to the glycosyl hydrolase 63 family." 9606.ENSP00000411010,DNTTIP2,756,Deoxynucleotidyltransferase terminal-interacting protein 2; Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein. 9606.ENSP00000411012,NSMAF,948,Protein FAN; Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N- SMASE. 9606.ENSP00000411013,TMPRSS3,454,Transmembrane protease serine 3; Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro). 9606.ENSP00000411032,ZNF284,593,Zinc finger protein 284; May be involved in transcriptional regulation. 9606.ENSP00000411070,LCE6A,80,Late cornified envelope protein 6A; Precursors of the cornified envelope of the stratum corneum. Belongs to the LCE family. 9606.ENSP00000411073,BCL7B,213,"B-cell CLL/lymphoma 7 protein family member B; Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1. Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation. May play a role in lung tumor development or progression (By similarity). Belongs to the BCL7 family." 9606.ENSP00000411084,ZNF799,643,Zinc finger protein 799; May be involved in transcriptional regulation. 9606.ENSP00000411096,ABCA13,5058,ATP binding cassette subfamily A member 13; Belongs to the ABC transporter superfamily. 9606.ENSP00000411099,TLK1,766,"Serine/threonine-protein kinase tousled-like 1; Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10'. Belongs to the protein kinase superfamily. [...] " 9606.ENSP00000411124,BEGAIN,593,Brain-enriched guanylate kinase-associated protein; May sustain the structure of the postsynaptic density (PSD). 9606.ENSP00000411132,ZNF619,616,Zinc finger protein 619; May be involved in transcriptional regulation. 9606.ENSP00000411140,NPIPB15,443,Nuclear pore complex interacting protein family member B15. 9606.ENSP00000411145,FEZF1,475,Fez family zinc finger protein 1; Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000411152,ITPKB,946,Inositol-trisphosphate 3-kinase B. 9606.ENSP00000411197,TBC1D9,1266,TBC1 domain family member 9; May act as a GTPase-activating protein for Rab family protein(s). 9606.ENSP00000411198,KRTAP4-16,235,Keratin associated protein 4-16. 9606.ENSP00000411242,FNDC3B,1204,Fibronectin type III domain-containing protein 3B; May be a positive regulator of adipogenesis. 9606.ENSP00000411253,TBCCD1,557,"TBCC domain-containing protein 1; Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration." 9606.ENSP00000411256,GABARAPL1,146,Gamma-aminobutyric acid receptor-associated protein-like 1; GABA type A receptor associated protein like 1. 9606.ENSP00000411268,BEND3,828,BEN domain-containing protein 3; Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination. Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites (By similarity). Stimulates the ERCC6L translocase and ATPase activities. 9606.ENSP00000411355,PTPRC,1306,"Receptor-type tyrosine-protein phosphatase C; Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity); Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily." 9606.ENSP00000411372,FAM200A,573,Protein FAM200A; Family with sequence similarity 200 member A; Belongs to the FAM200 family. 9606.ENSP00000411397,MARK3,753,"MAP/microtubule affinity-regulating kinase 3; Serine/threonine-protein kinase. Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU. Phosphorylates CDC25C on 'Ser-216'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the [...] " 9606.ENSP00000411418,RAB3GAP1,988,"Rab3 GTPase-activating protein catalytic subunit; Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters." 9606.ENSP00000411439,PATE4,98,Prostate and testis expressed protein 4; May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility. 9606.ENSP00000411471,ABCF3,709,ATP-binding cassette sub-family F member 3; Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B. 9606.ENSP00000411506,FAM153A,310,Protein FAM153A; Family with sequence similarity 153 member A; Belongs to the FAM153 family. 9606.ENSP00000411532,TOP2A,1531,DNA topoisomerase 2-alpha; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double- strand breaks. Essential during mitosis and meiosis for proper segregation of daughter chromosomes. May play a role in regulating the period length of ARNTL/BMAL1 transcriptional oscillation (By similarity). 9606.ENSP00000411565,DHRS12,317,Dehydrogenase/reductase SDR family member 12; Putative oxidoreductase; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000411584,MSANTD1,278,Myb/SANT-like DNA-binding domain-containing protein 1; Myb/SANT DNA binding domain containing 1. 9606.ENSP00000411593,GLRA1,457,Glycine receptor subunit alpha-1; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta- alanine. Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization. Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Channel activity is potentiated by ethanol. Potentiation of channel activity by intoxi [...] 9606.ENSP00000411613,AOC1,770,"Amiloride-sensitive amine oxidase [copper-containing]; Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function; Belongs to the copper/topaquinone oxidase family." 9606.ENSP00000411672,ATP6V0E2,213,V-type proton ATPase subunit e 2; Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the V-ATPase e1/e2 subunit family. 9606.ENSP00000411719,MPST,317,"3-mercaptopyruvate sulfurtransferase; Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is re [...] " 9606.ENSP00000411770,COLEC11,285,"Collectin-11; Lectin that plays a role in innate immunity, apoptosis and embryogenesis. Calcium-dependent lectin that binds self and non-self glycoproteins presenting high mannose oligosaccharides with at least one terminal alpha-1,2-linked mannose epitope. Primarily recognizes the terminal disaccharide of the glycan. Also recognizes a subset of fucosylated glycans and lipopolysaccharides. Plays a role in innate immunity through its ability to bind non-self sugars presented by microorganisms and to activate the complement through the recruitment of MAPS1. Also plays a role in apoptosis [...] " 9606.ENSP00000411788,GPR35,340,"G-protein coupled receptor 35; Acts as a receptor for kynurenic acid, an intermediate in the tryptophan metabolic pathway. The activity of this receptor is mediated by G-proteins that elicit calcium mobilization and inositol phosphate production through G(qi/o) proteins." 9606.ENSP00000411816,CSGALNACT1,532,"Chondroitin sulfate N-acetylgalactosaminyltransferase 1; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification. Moreover, is involved in the metabolism of aggrecan (By similarity)." 9606.ENSP00000411821,ALDH3A1,453,"Aldehyde dehydrogenase, dimeric NADP-preferring; ALDHs play a major role in the detoxification of alcohol- derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids. Preferentially oxidizes aromatic aldehyde substrates. Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity)." 9606.ENSP00000411822,ISY1-RAB43,331,"Pre-mRNA-splicing factor ISY1 homolog; Component of the spliceosome C complex required for the selective processing of microRNAs during embryonic stem cell differentiation (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (By similarity). By enhancing miRNA biogenes [...] " 9606.ENSP00000411825,PDCD6IP,873,"Programmed cell death 6-interacting protein; Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires [...] " 9606.ENSP00000411827,GPR137,475,Integral membrane protein GPR137; Lysosomal integral membrane protein that may regulate MTORC1 complex translocation to lysosomes. May play a role in autophagy ; Belongs to the GPR137 family. 9606.ENSP00000411831,KIF21B,1637,"Kinesin-like protein KIF21B; Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family." 9606.ENSP00000411848,MARCHF8,573,Membrane associated ring-CH-type finger 8. 9606.ENSP00000411898,EPGN,154,Epigen; Promotes the growth of epithelial cells. May stimulate the phosphorylation of EGFR and mitogen-activated protein kinases. 9606.ENSP00000411909,CT47A10,288,Cancer/testis antigen family 47 member A10. 9606.ENSP00000411932,LMOD2,547,"Leiomodin-2; Mediates nucleation of actin filaments and thereby promotes actin polymerization. Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function." 9606.ENSP00000411940,IFNA17,189,"Interferon alpha-17; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000411948,SAPCD1,178,Suppressor APC domain containing 1. 9606.ENSP00000411960,HSD17B4,761,Peroxisomal multifunctional enzyme type 2; Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. 9606.ENSP00000412064,PRR13,148,Proline-rich protein 13; Negatively regulates TSP1 expression at the level of transcription. This down-regulation was shown to reduce taxane-induced apoptosis. 9606.ENSP00000412130,MRVI1,912,Protein MRVI1; Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO- dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation. 9606.ENSP00000412150,CCDC121,440,Coiled-coil domain containing 121. 9606.ENSP00000412178,DGKZ,1117,"Diacylglycerol kinase zeta; Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. Isoform 2 but not isoform 1 regulates RASGRP1 activity. Positively regulates insulin-induced translocation of SLC2A4 to the cell membrane in adipocytes (By similarity). Activates PIP5K1A activity via generation of phosphatidic acid ; Belongs to the eukaryotic diacylglycerol kinase family." 9606.ENSP00000412189,PGAM4,254,Phosphoglycerate mutase family member 4. 9606.ENSP00000412209,IL5RA,420,Interleukin-5 receptor subunit alpha; This is the receptor for interleukin-5. The alpha chain binds to IL5; Belongs to the type I cytokine receptor family. Type 5 subfamily. 9606.ENSP00000412215,C4orf45,186,Uncharacterized protein C4orf45; Chromosome 4 open reading frame 45. 9606.ENSP00000412237,IL10,178,"Interleukin-10; Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanistically, IL10 binds to its heterotetrameric receptor comprising IL10RA and IL10RB leading to JAK1 and STAT2-mediated phosphorylation of STAT3. In turn, STAT3 translocates to the nucleus where it drives expression of anti-inflammatory mediators. Targets antigen-presenting cells (APCs) such as macrophages and monocytes and inhibits their release of pro- inflammatory cytokines i [...] " 9606.ENSP00000412292,DEPDC1,811,"DEP domain-containing protein 1A; May be involved in transcriptional regulation as a transcriptional corepressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells." 9606.ENSP00000412302,MBD3,291,Methyl-CpG-binding domain protein 3; Acts as transcriptional repressor and plays a role in gene silencing. Does not bind to DNA by itself. Binds to DNA with a preference for sites containing methylated CpG dinucleotides (in vitro). Binds to a lesser degree DNA containing unmethylated CpG dinucleotides. Recruits histone deacetylases and DNA methyltransferases. 9606.ENSP00000412324,PPP2R5C,555,"Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A- PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signaling pathway through ERK dephosphorylation." 9606.ENSP00000412326,ARPP21,813,cAMP-regulated phosphoprotein 21; Isoform 2 may act as a competitive inhibitor of calmodulin- dependent enzymes such as calcineurin in neurons. 9606.ENSP00000412361,SIGLEC11,698,"Sialic acid-binding Ig-like lectin 11; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,8-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules." 9606.ENSP00000412363,ZNF438,828,Zinc finger protein 438; Isoform 1 acts as a transcriptional repressor. 9606.ENSP00000412388,AJM1,976,Apical junction component 1 homolog; May be involved in the control of adherens junction integrity. 9606.ENSP00000412457,F6UB75_HUMAN,175,MHC_II_beta domain-containing protein. 9606.ENSP00000412461,ARHGAP22,714,"Rho GTPase-activating protein 22; Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1- dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity)." 9606.ENSP00000412482,MYEOV,313,Myeloma-overexpressed gene protein; Myeloma overexpressed. 9606.ENSP00000412524,TMEM169,297,Transmembrane protein 169. 9606.ENSP00000412536,C9IYR8_HUMAN,30,Uncharacterized protein. 9606.ENSP00000412566,SNRPB,240,"Small nuclear ribonucleoprotein-associated proteins B and B; Plays role in pre-mRNA splicing as core component of the SMN- Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing." 9606.ENSP00000412673,GABRR1,479,"Gamma-aminobutyric acid receptor subunit rho-1; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission." 9606.ENSP00000412708,RMND1,449,"Required for meiotic nuclear division protein 1 homolog; Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome ; Belongs to the RMD1/sif2 family." 9606.ENSP00000412733,OSBPL9,746,Oxysterol binding protein like 9; Belongs to the OSBP family. 9606.ENSP00000412752,OR4A47,309,Olfactory receptor 4A47; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000412763,MALRD1,2156,MAM and LDL-receptor class A domain-containing protein 1; Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis. 9606.ENSP00000412869,IKZF2,526,Zinc finger protein Helios; Associates with Ikaros at centromeric heterochromatin. 9606.ENSP00000412886,CAMTA2,1241,Calmodulin-binding transcription activator 2; Transcription activator. May act as tumor suppressor. Belongs to the CAMTA family. 9606.ENSP00000412894,RPP14,124,"Ribonuclease P protein subunit p14; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Belongs to the eukaryotic/archaeal RNase P protein component 2 family." 9606.ENSP00000412897,IFNA4,189,"Interferon alpha-4; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000412940,FREM1,2179,FRAS1-related extracellular matrix protein 1; Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development; Belongs to the FRAS1 family. 9606.ENSP00000412988,TSPY3,294,Testis specific protein Y-linked 3. 9606.ENSP00000412999,ZNF805,627,Zinc finger protein 805; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000413001,AGBL1,1112,"Cytosolic carboxypeptidase 4; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5." 9606.ENSP00000413017,CCDC28B,241,"Coiled-coil domain-containing protein 28B; Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex." 9606.ENSP00000413029,C7orf25,479,UPF0415 protein C7orf25; Chromosome 7 open reading frame 25; Belongs to the UPF0415 family. 9606.ENSP00000413035,RBFOX2,451,RNA binding protein fox-1 homolog 2; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue- specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha. 9606.ENSP00000413064,NAT8L,302,"N-acetylaspartate synthetase; Plays a role in the regulation of lipogenesis by producing N- acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake." 9606.ENSP00000413079,MICA,332,MHC class I polypeptide-related sequence A; Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T-cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis. Belongs to the MHC class I family. MIC subfamily. 9606.ENSP00000413098,SCAF8,1349,"SR-related and CTD-associated factor 8; Anti-terminator protein required to prevent early mRNA termination during transcription. Together with SCAF4, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins. Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation. Independently [...] " 9606.ENSP00000413100,C16orf91,132,Protein CCSMST1; Chromosome 16 open reading frame 91. 9606.ENSP00000413150,C1orf226,315,Uncharacterized protein C1orf226; Chromosome 1 open reading frame 226. 9606.ENSP00000413152,FKBP7,222,Peptidyl-prolyl cis-trans isomerase FKBP7; PPIases accelerate the folding of proteins during protein synthesis. 9606.ENSP00000413156,RAB34,268,"Ras-related protein Rab-34; Protein transport. Involved in the redistribution of lysosomes to the peri-Golgi region (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (By similarity)." 9606.ENSP00000413163,TMEM130,435,Transmembrane protein 130. 9606.ENSP00000413196,FAM160A1,1040,Protein FAM160A1; Family with sequence similarity 160 member A1; Belongs to the UPF0518 family. 9606.ENSP00000413218,PRXL2B,246,Prostamide/prostaglandin F synthase; Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity). 9606.ENSP00000413228,SLC66A1L,135,Putative uncharacterized protein SLC66A1L; Solute carrier family 66 member 1 like. 9606.ENSP00000413405,PIGZ,579,"GPI mannosyltransferase 4; Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers a fourth mannose to some trimannosyl- GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues; Belongs to the glycosyltransferase 22 family. PIGZ subfamily." 9606.ENSP00000413411,ZNF724,619,Zinc finger protein 724; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000413418,ZFHX2,2572,Zinc finger homeobox protein 2; Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli. 9606.ENSP00000413436,RPL10,214,60S ribosomal protein L10; Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes. May play a role in the embryonic brain development. 9606.ENSP00000413445,KIAA1324L,1029,UPF0577 protein KIAA1324-like; Belongs to the UPF0577 family. 9606.ENSP00000413479,KRT3,628,"Keratin, type II cytoskeletal 3; Keratin 3; Belongs to the intermediate filament family." 9606.ENSP00000413496,FGF12,243,Fibroblast growth factor 12; Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation. 9606.ENSP00000413507,SEPTIN7,401,"Septin-7; Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation." 9606.ENSP00000413520,HID1,788,Protein HID1; May play an important role in the development of cancers in a broad range of tissues. 9606.ENSP00000413572,NLE1,485,"Notchless protein homolog 1; Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity). Belongs to the NLE1/RSA4 family." 9606.ENSP00000413575,CROT,640,"Peroxisomal carnitine O-octanoyltransferase; Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester." 9606.ENSP00000413592,RFESD,210,Rieske domain-containing protein; Rieske Fe-S domain containing. 9606.ENSP00000413606,STXBP2,604,Syntaxin-binding protein 2; Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. 9606.ENSP00000413625,FNBP1,617,"Formin-binding protein 1; May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane [...] " 9606.ENSP00000413632,MCMDC2,681,Minichromosome maintenance domain-containing protein 2; Plays an important role in meiotic recombination and associated DNA double-strand break repair. 9606.ENSP00000413660,ZNF492,531,Zinc finger protein 492; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000413697,TOM1,493,Target of Myb protein 1; May be involved in intracellular trafficking. Probable association with membranes; Belongs to the TOM1 family. 9606.ENSP00000413707,LRRC15,587,Leucine-rich repeat-containing protein 15; Leucine rich repeat containing 15. 9606.ENSP00000413720,CDKN1C,316,"Cyclin-dependent kinase inhibitor 1C; Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life; Belongs to the CDI family." 9606.ENSP00000413728,C12orf71,269,Uncharacterized protein C12orf71; Chromosome 12 open reading frame 71. 9606.ENSP00000413861,SIGLEC9,479,"Sialic acid-binding Ig-like lectin 9; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface; Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family." 9606.ENSP00000413896,FAM25G,89,Family with sequence similarity 25 member G. 9606.ENSP00000413908,BCS1L,419,"Mitochondrial chaperone BCS1; Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex." 9606.ENSP00000413929,RCOR3,553,REST corepressor 3; May act as a component of a corepressor complex that represses transcription; Belongs to the CoREST family. 9606.ENSP00000413937,INPP5K,448,"Inositol polyphosphate 5-phosphatase K; Inositol 5-phosphatase which acts on inositol 1,4,5- trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5- trisphosphate. Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity)." 9606.ENSP00000414019,GDPD2,590,"Glycerophosphoinositol inositolphosphodiesterase GDPD2; Has glycerophosphoinositol inositolphosphodiesterase activity and specifically hydrolyzes glycerophosphoinositol, with no activity for other substrates such as glycerophosphoinositol 4-phosphate, glycerophosphocholine, glycerophosphoethanolamine, and glycerophosphoserine. Accelerates the program of osteoblast differentiation and growth. May play a role in remodeling of the actin cytoskeleton (By similarity)." 9606.ENSP00000414022,PERM1,790,"PGC-1 and ERR-induced regulator in muscle protein 1; Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4." 9606.ENSP00000414055,NRBP2,501,Nuclear receptor-binding protein 2; May regulate apoptosis of neural progenitor cells during their differentiation. 9606.ENSP00000414066,SDHAF3,125,"Succinate dehydrogenase assembly factor 3, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF1." 9606.ENSP00000414068,J3KR12_HUMAN,359,Uncharacterized protein. 9606.ENSP00000414095,CUL2,764,"Cullin-2; Core component of multiple cullin-RING-based ECS (ElonginB/C- CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the denedd [...] " 9606.ENSP00000414109,HJURP,748,Holliday junction recognition protein; Centromeric protein that plays a central role in the incorporation and maintenance of histone H3-like variant CENPA at centromeres. Acts as a specific chaperone for CENPA and is required for the incorporation of newly synthesized CENPA molecules into nucleosomes at replicated centromeres. Prevents CENPA-H4 tetramerization and prevents premature DNA binding by the CENPA-H4 tetramer. Directly binds Holliday junctions. 9606.ENSP00000414147,SPART,666,"Spartin; May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis." 9606.ENSP00000414150,ERG,486,Transcriptional regulator ERG; Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure. 9606.ENSP00000414178,MTMR1,673,"Myotubularin-related protein 1; Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)- bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by while find no activity with this substrate." 9606.ENSP00000414202,PPP6R1,881,Serine/threonine-protein phosphatase 6 regulatory subunit 1; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. 9606.ENSP00000414236,HSBP1L1,74,Heat shock factor binding protein 1 like 1; Belongs to the HSBP1 family. 9606.ENSP00000414237,INTS2,1204,"Integrator complex subunit 2; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex." 9606.ENSP00000414253,CT47A2,288,Cancer/testis antigen family 47 member A2. 9606.ENSP00000414287,MST1,725,Hepatocyte growth factor-like protein alpha chain; Macrophage stimulating 1. 9606.ENSP00000414302,SRSF12,261,Serine/arginine-rich splicing factor 12; Splicing factor that seems to antagonize SR proteins in pre- mRNA splicing regulation. 9606.ENSP00000414303,BDNF,329,"Brain-derived neurotrophic factor; Important signaling molecule that activates signaling cascades downstream of NTRK2. During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentia [...] " 9606.ENSP00000414321,RPS24,289,40S ribosomal protein S24; Required for processing of pre-rRNA and maturation of 40S ribosomal subunits; Belongs to the eukaryotic ribosomal protein eS24 family. 9606.ENSP00000414330,RIMKLA,391,N-acetylaspartylglutamate synthase A; Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate. Belongs to the RimK family. 9606.ENSP00000414350,MUC20,709,Mucin-20; May regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression. 9606.ENSP00000414359,PSMA1,269,"Proteasome subunit alpha type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pr [...] " 9606.ENSP00000414378,EFNA4,207,"Ephrin-A4; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils." 9606.ENSP00000414390,CFAP300,267,Cilia- and flagella-associated protein 300; Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly. 9606.ENSP00000414392,USP17L13,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 13; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000414398,DNAJB11,358,"DnaJ homolog subfamily B member 11; As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins. Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed. May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity. It is necessary for maturation and correct trafficking of PKD1." 9606.ENSP00000414451,FAM177B,158,Protein FAM177B; Family with sequence similarity 177 member B. 9606.ENSP00000414516,SS18,418,"Protein SSXT; Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner." 9606.ENSP00000414517,MAMLD1,998,Mastermind-like domain-containing protein 1; Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ; Belongs to the mastermind family. 9606.ENSP00000414521,MID1,667,"E3 ubiquitin-protein ligase Midline-1; Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination; Belongs to the TRIM/RBCC family." 9606.ENSP00000414558,ABHD4,342,"(Lyso)-N-acylphosphatidylethanolamine lipase; Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N- acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatid [...] " 9606.ENSP00000414597,EFCC1,598,EF-hand and coiled-coil domain containing 1. 9606.ENSP00000414624,PRPSAP1,385,Phosphoribosyl pyrophosphate synthase-associated protein 1; Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis. 9606.ENSP00000414635,LRRC34,464,"Leucine-rich repeat-containing protein 34; Highly expressed in stem cells where it may be involved in regulation of pluripotency. In embryonic stem cells (ESCs), important for normal expression of the pluripotency regulators POU5F1/OCT4 and KLF4. Also important for expression of the ectodermal marker gene NES and the endodermal marker gene GATA4. Promotes stem cell proliferation in vitro." 9606.ENSP00000414644,CARF,725,Calcium-responsive transcription factor; Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence. 9606.ENSP00000414657,OSR2,433,Protein odd-skipped-related 2; Odd-skipped related transciption factor 2. 9606.ENSP00000414670,LMOD3,560,Leiomodin-3; Essential for the organization of sarcomeric actin thin filaments in skeletal muscle. Increases the rate of actin polymerization ; Belongs to the tropomodulin family. 9606.ENSP00000414721,WBP1L,363,WW domain binding protein 1 like. 9606.ENSP00000414750,SKOR2,1015,SKI family transcriptional corepressor 2; Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system. 9606.ENSP00000414786,TMEM64,380,"Transmembrane protein 64; Positively regulates TNFSF11-induced osteoclast differentiation. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with SERCA2 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation. Negatively regulates [...] " 9606.ENSP00000414851,ELP2,891,"Elongator complex protein 2; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation. The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs." 9606.ENSP00000414856,SPARCL1,664,SPARC-like protein 1; SPARC like 1. 9606.ENSP00000414884,HYLS1,299,Hydrolethalus syndrome protein 1; Plays a role in ciliogenesis. 9606.ENSP00000414886,KCNIP1,241,"Kv channel-interacting protein 1; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Regulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents. Increases the presence of KCND2 at the cell surface. Belongs to the recoverin family." 9606.ENSP00000414887,ZNF879,563,Zinc finger protein 879; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000414904,CTSO,321,Cathepsin O; Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover; Belongs to the peptidase C1 family. 9606.ENSP00000414906,DCTN4,467,Dynactin subunit 4; Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton. 9606.ENSP00000414909,C1orf167,1468,Uncharacterized protein C1orf167; Chromosome 1 open reading frame 167. 9606.ENSP00000414920,SPATA24,205,Spermatogenesis-associated protein 24; Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of TATA box-containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in cytoplasm movement and removal during spermiogenesis (By similarity). 9606.ENSP00000414921,PTBP3,558,"Polypyrimidine tract-binding protein 3; RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U)." 9606.ENSP00000414922,USP41,358,Putative ubiquitin carboxyl-terminal hydrolase 41; May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). 9606.ENSP00000414964,CCDC107,283,Coiled-coil domain containing 107. 9606.ENSP00000414982,KLC1,618,Kinesin light chain 1; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity. 9606.ENSP00000415011,SLC30A8,369,"Zinc transporter 8; Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells. Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily." 9606.ENSP00000415026,PRRT4,899,Proline rich transmembrane protein 4. 9606.ENSP00000415027,C16orf96,1141,Uncharacterized protein C16orf96; Chromosome 16 open reading frame 96. 9606.ENSP00000415030,TMEM171,324,Transmembrane protein 171. 9606.ENSP00000415034,NBEAL2,2754,"Neurobeachin-like protein 2; Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis. Belongs to the WD repeat neurobeachin family." 9606.ENSP00000415049,GSDMB,416,Gasdermin-B; The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores. The physiological relevance of this observation is unknown (Probable). 9606.ENSP00000415056,EXD1,572,"piRNA biogenesis protein EXD1; RNA-binding component of the PET complex, a multiprotein complex required for the processing of piRNAs during spermatogenesis. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposable elements, preventing their mobilization, which is essential for the germline integrity (By similarity). The PET complex is required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loa [...] " 9606.ENSP00000415070,ZNF177,481,Zinc finger protein 177; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000415078,CACTIN,758,"Cactin; Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor, interferon-regulatory factor (IRF) and canonical NF-kappa-B signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli." 9606.ENSP00000415090,MYO7B,2116,"Unconventional myosin-VIIb; Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable)." 9606.ENSP00000415139,TICAM2,235,"TIR domain-containing adapter molecule 2; Functions as sorting adapter in different signaling pathways to facilitate downstream signaling leading to type I interferon induction. In TLR4 signaling, physically bridges TLR4 and TICAM1 and functionally transmits signal to TICAM1 in early endosomes after endocytosis of TLR4. In TLR2 signaling, physically bridges TLR2 and MYD88 and is required for the TLR2-dependent movement of MYD88 to endosomes following ligand engagement. Involved in IL-18 signaling and is proposed to function as a sorting adapter for MYD88 in IL-18 signaling during adapt [...] " 9606.ENSP00000415151,CBFB,187,"Core-binding factor subunit beta; Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'- TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine l [...] " 9606.ENSP00000415178,H7C417_HUMAN,338,CRAL-TRIO domain-containing protein. 9606.ENSP00000415203,PIGG,983,GPI ethanolamine phosphate transferase 2; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose. 9606.ENSP00000415207,NPIPB7,421,Nuclear pore complex interacting protein family member B7. 9606.ENSP00000415243,SKIL,684,Ski-like protein; May have regulatory role in cell division or differentiation in response to extracellular signals; Belongs to the SKI family. 9606.ENSP00000415283,ICAM2,275,"Intercellular adhesion molecule 2; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance." 9606.ENSP00000415299,FAM221B,402,Protein FAM221B; Family with sequence similarity 221 member B. 9606.ENSP00000415332,SESTD1,696,"SEC14 domain and spectrin repeat-containing protein 1; May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1." 9606.ENSP00000415416,TRIB3,385,Tribbles homolog 3; Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation. May bind directly to and mask the 'Thr- 308' phosphorylation site in AKT1. Binds to ATF4 and inhibits its transcriptional activation activity. Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity. Interacts with MAPK kinases and regulates activation of MAP kinases. May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells. Does not display kinase activi [...] 9606.ENSP00000415430,GTSE1,739,G2 and S phase-expressed protein 1; May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. Overexpression delays G2/M phase progression. 9606.ENSP00000415433,INTS12,462,"Integrator complex subunit 12; Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'- box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex." 9606.ENSP00000415434,USP40,1247,Ubiquitin carboxyl-terminal hydrolase 40; May be catalytically inactive; Belongs to the peptidase C19 family. 9606.ENSP00000415436,KANSL2,492,KAT8 regulatory NSL complex subunit 2; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. 9606.ENSP00000415454,GCNT1,428,"Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase; Glycosyltransferase that catalyzes the transfer of an N- acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O-glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes." 9606.ENSP00000415464,LARP4,730,La-related protein 4; RNA binding protein that binds to the poly-A tract of mRNA molecules. Associates with the 40S ribosomal subunit and with polysomes. Plays a role in the regulation of mRNA translation. Plays a role in the regulation of cell morphology and cytoskeletal organization. 9606.ENSP00000415517,TSBP1,563,Testis expressed basic protein 1. 9606.ENSP00000415528,CCDC81,652,Coiled-coil domain containing 81. 9606.ENSP00000415536,POLR2H,175,"DNA-directed RNA polymerases I, II, and III subunit RPABC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Belongs to the eukaryotic RPB8 RNA polymerase subunit family." 9606.ENSP00000415556,DCAF11,546,DDB1- and CUL4-associated factor 11; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. 9606.ENSP00000415579,CTCFL,700,"Transcriptional repressor CTCFL; Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases a [...] " 9606.ENSP00000415609,ENSP00000415609,154,Novel protein. 9606.ENSP00000415662,CFAP97D1,164,Uncharacterized protein CFAP97D1; CFAP97 domain containing 1; Belongs to the CFAP97 family. 9606.ENSP00000415676,GGTLC2,218,Gamma-glutamyltransferase light chain 2; Belongs to the gamma-glutamyltransferase family. 9606.ENSP00000415682,RNF10,816,RING finger protein 10; Transcriptional factor involved in the regulation of MAG (Myelin-associated glycoprotein) expression. Acts as a regulator of Schwann cell differentiation and myelination. 9606.ENSP00000415743,CD36,472,"Platelet glycoprotein 4; Multifunctional glycoprotein that acts as receptor for a broad range of ligands. Ligands can be of proteinaceous nature like thrombospondin, fibronectin, collagen or amyloid-beta as well as of lipidic nature such as oxidized low-density lipoprotein (oxLDL), anionic phospholipids, long-chain fatty acids and bacterial diacylated lipopeptides. They are generally multivalent and can therefore engage multiple receptors simultaneously, the resulting formation of CD36 clusters initiates signal transduction and internalization of receptor- ligand complexes. The depende [...] " 9606.ENSP00000415769,ITIH3,890,"Inter-alpha-trypsin inhibitor heavy chain H3; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes." 9606.ENSP00000415774,ZNF732,585,Zinc finger protein 732; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000415786,SERPINE2,409,"Glia-derived nexin; Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin; Belongs to the serpin family." 9606.ENSP00000415822,ATXN1L,689,"Ataxin-1-like; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ- mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity)." 9606.ENSP00000415823,IGFL1,110,Insulin growth factor-like family member 1; Probable ligand of the IGFLR1 cell membrane receptor. 9606.ENSP00000415836,ZNF276,614,Zinc finger protein 276; May be involved in transcriptional regulation. 9606.ENSP00000415941,C4B,1744,"Complement C4-B alpha chain; Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens." 9606.ENSP00000415998,SLC48A1,146,Heme transporter HRG1; Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment. 9606.ENSP00000416002,SLC35A2,421,UDP-galactose translocator; Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. 9606.ENSP00000416015,MICAL3,2002,"[F-actin]-monooxygenase MICAL3; Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Seems to act as Rab effector protein and plays a role in vesicle trafficking. Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process and implicates RAB8A associated with exocytotic vesicles. Required fo [...] " 9606.ENSP00000416033,PROB1,1015,Proline rich basic protein 1. 9606.ENSP00000416037,TMPRSS4,437,Transmembrane protease serine 4; Probable protease. Seems to be capable of activating ENaC (By similarity). 9606.ENSP00000416040,KIAA1549,1950,UPF0606 protein KIAA1549; KIAA1549; Belongs to the UPF0606 family. 9606.ENSP00000416050,TM2D2,214,TM2 domain containing 2. 9606.ENSP00000416066,SERPINA1,418,"Short peptide from AAT; Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin; Belongs to the serpin family." 9606.ENSP00000416097,GOLGA2,1002,"Golgin subfamily A member 2; Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane (Probable). Required for normal protein transport from the endoplasmic reticulum to the Golgi apparatus and the cell membrane (By similarity). Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in [...] " 9606.ENSP00000416125,ARHGEF38,777,Rho guanine nucleotide exchange factor 38; May act as a guanine-nucleotide releasing factor. 9606.ENSP00000416126,PRAP1,151,Proline-rich acidic protein 1; May play an important role in maintaining normal growth homeostasis in epithelial cells. 9606.ENSP00000416154,TMEM238,176,Transmembrane protein 238. 9606.ENSP00000416158,FKBP15,1219,FK506-binding protein 15; May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement. 9606.ENSP00000416193,P2RX6,441,P2X purinoceptor 6; Receptor for ATP that acts as a ligand-gated ion channel. Belongs to the P2X receptor family. 9606.ENSP00000416249,GAGE12G,117,G antigen 12G. 9606.ENSP00000416250,EIF2B1,305,Translation initiation factor eIF-2B subunit alpha; Catalyzes the exchange of eukaryotic initiation factor 2- bound GDP for GTP. 9606.ENSP00000416255,EIF4G1,1606,"Eukaryotic translation initiation factor 4 gamma 1; Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome; Belongs to the eukaryotic initiation factor 4G family." 9606.ENSP00000416269,DDX39B,428,"Spliceosome RNA helicase DDX39B; Involved in nuclear export of spliced and unspliced mRNA. Assembling component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pat [...] " 9606.ENSP00000416289,WDR27,895,WD repeat domain 27. 9606.ENSP00000416293,SLC2A1,492,"Solute carrier family 2, facilitated glucose transporter member 1; Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain." 9606.ENSP00000416330,TGFBI,683,Transforming growth factor-beta-induced protein ig-h3; Plays a role in cell adhesion. May play a role in cell-collagen interactions (By similarity). 9606.ENSP00000416338,MFN2,757,"Mitofusin-2; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion. Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events. Overexpression induces the formation of mitochondrial networks. Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the [...] " 9606.ENSP00000416341,NELL2,866,Protein kinase C-binding protein NELL2; Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity). 9606.ENSP00000416387,FBLIM1,374,Filamin-binding LIM protein 1; Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion. 9606.ENSP00000416418,SLC9A8,597,Sodium/hydrogen exchanger 8; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. 9606.ENSP00000416429,RPL32,135,Ribosomal protein L32; Belongs to the eukaryotic ribosomal protein eL32 family. 9606.ENSP00000416508,ATP13A3,1226,ATPase 13A3; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. 9606.ENSP00000416515,FDXR,534,"NADPH:adrenodoxin oxidoreductase, mitochondrial; Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C- 27 hydroxylation in the liver." 9606.ENSP00000416523,SEMA4D,862,Semaphorin-4D; Cell surface receptor for PLXNB1 and PLXNB2 that plays an important role in cell-cell signaling. Regulates GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner (By similarity). Modulates the complexity and arborization of developing neurites in hippocampal neurons by activating PLXNB1 and interaction with PLXNB1 mediates activation of RHOA. Promotes the migration of cerebellar granule cells. Plays a role in the immune system; induces B-cells to aggregate and improves their viability (in vitro). Induce [...] 9606.ENSP00000416534,DDX46,1032,"Probable ATP-dependent RNA helicase DDX46; Plays an essential role in splicing, either prior to, or during splicing A complex formation; Belongs to the DEAD box helicase family. DDX46/PRP5 subfamily." 9606.ENSP00000416558,FBXO24,618,F-box only protein 24; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000416561,CFB,764,"Complement factor B Ba fragment; Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes." 9606.ENSP00000416583,DERA,318,Deoxyribose-phosphate aldolase; Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy-D-ribose 5- phosphate. Participates in stress granule (SG) assembly. May allow ATP production from extracellular deoxyinosine in conditions of energy deprivation. 9606.ENSP00000416606,FSHB,129,"Follitropin subunit beta; Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways. Follitropin is involved in follicle development and spermatogenesis in reproductive organs. Belongs to the glycoprotein hormones subunit beta family." 9606.ENSP00000416658,NME6,194,"Nucleoside diphosphate kinase 6; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Inhibitor of p53-induced apoptosis." 9606.ENSP00000416662,ZNF713,443,Zinc finger protein 713; May be involved in transcriptional regulation. 9606.ENSP00000416673,PATL2,543,Protein PAT1 homolog 2; RNA-binding protein that acts as a translational repressor. 9606.ENSP00000416683,IGFALS,643,"Insulin-like growth factor-binding protein complex acid labile subunit; Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion." 9606.ENSP00000416696,RIC1,1423,"RAB6A-GEF complex partner protein 1; The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors. Required for phosphorylation and localization of GJA1." 9606.ENSP00000416706,ACTBL2,376,Beta-actin-like protein 2; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. 9606.ENSP00000416707,XKR6,641,XK-related protein 6; XK related 6; Belongs to the XK family. 9606.ENSP00000416739,RECQL,649,ATP-dependent DNA helicase Q1; DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Belongs to the helicase family. RecQ subfamily. 9606.ENSP00000416741,HS3ST6,342,"Heparan sulfate glucosamine 3-O-sulfotransferase 6; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non- anticoagulant heparan sulfate to anticoagulant heparan sulfate." 9606.ENSP00000416750,STK33,514,Serine/threonine-protein kinase 33; Serine/threonine protein kinase which phosphorylates VIME. May play a specific role in the dynamic behavior of the intermediate filament cytoskeleton by phosphorylation of VIME (By similarity). Not essential for the survival of KRAS-dependent AML cell lines. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. 9606.ENSP00000416787,GALNT11,608,"Polypeptide N-acetylgalactosaminyltransferase 11; Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O- glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N-acetylgalactosaminyltransferases catalyze the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme a [...] " 9606.ENSP00000416797,CAMSAP3,1276,"Calmodulin-regulated spectrin-associated protein 3; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization. Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. In addition, it also reduces the velocity of microtubule [...] " 9606.ENSP00000416799,SPATA2,520,"Spermatogenesis-associated protein 2; Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-alpha-induced necroptosis. Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC). Required to activate the 'Met-1'- (linear) and 'Lys-63'-linked deubiquitinase activities of CYLD. Controls the kinase activity of RIPK1 and TNF-alpha-induced necroptosis by promoting 'Met-1'-linked deubiquitination of RIPK1 [...] " 9606.ENSP00000416809,ZNF679,411,Zinc finger protein 679; May be involved in transcriptional regulation. 9606.ENSP00000416951,ZC3H18,977,Zinc finger CCCH-type containing 18. 9606.ENSP00000416959,TRA2B,288,"Transformer-2 protein homolog beta; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA. Belongs to the splicing factor SR family." 9606.ENSP00000416996,ACKR2,384,"Atypical chemokine receptor 2; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines including CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha, SCYA5/RANTES and SCYA7/M [...] " 9606.ENSP00000417003,PLEKHM3,761,Pleckstrin homology domain-containing family M member 3; Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation. 9606.ENSP00000417035,C19orf81,198,Putative uncharacterized protein C19orf81; Chromosome 19 open reading frame 81. 9606.ENSP00000417038,PHACTR2,645,Phosphatase and actin regulator 2. 9606.ENSP00000417050,B4E171_HUMAN,279,Tetraspanin. 9606.ENSP00000417052,EBP,230,"3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers; Belongs to the EBP family." 9606.ENSP00000417061,CFAP74,1584,Cilia- and flagella-associated protein 74; As part of the central apparatus of the cilium axoneme may play a role in cilium movement. 9606.ENSP00000417063,SPATA6L,334,Spermatogenesis associated 6 like; Belongs to the SPATA6 family. 9606.ENSP00000417078,DHX36,1008,"ATP-dependent DNA/RNA helicase DHX36; Multifunctional ATP-dependent helicase that unwinds G- quadruplex (G4) structures. Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses. G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-ADN and G4-RNA). Plays a role in genomic integrity. Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a do [...] " 9606.ENSP00000417085,SLC15A2,729,Solute carrier family 15 member 2; Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. Transports the dipeptide-like aminopeptidase inhibitor bestatin (By similarity). Can also transport the aminocephalosporin antibiotic cefadroxil (By similarity); Belongs to the PTR2/POT transporter (TC 2.A.17) family. 9606.ENSP00000417128,DEFB121,76,Beta-defensin 121; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000417132,BAP1,729,"Ubiquitin carboxyl-terminal hydrolase BAP1; Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N- terminal and C-terminal chains, with some specificity toward 'Lys-48'- linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin cha [...] " 9606.ENSP00000417138,PLTP,493,"Phospholipid transfer protein; Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL, thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from peripheral cells and tissues that [...] " 9606.ENSP00000417142,NDUFA5,116,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000417161,GPR143,404,"G-protein coupled receptor 143; Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand-dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport." 9606.ENSP00000417171,ATP6V1G3,124,V-type proton ATPase subunit G 3; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000417175,VAPB,243,Vesicle-associated membrane protein-associated protein B/C; Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation. 9606.ENSP00000417182,MUCL3,1393,Mucin-like protein 3; May modulate NF-kappaB signaling and play a role in cell growth. 9606.ENSP00000417183,DUSP7,419,"Dual specificity protein phosphatase 7; Dual specificity protein phosphatase. Shows high activity towards MAPK1/ERK2. Also has lower activity towards MAPK14 and MAPK8. In arrested oocytes, plays a role in meiotic resumption (By similarity). Promotes nuclear envelope breakdown and activation of the CDK1/Cyclin-B complex in oocytes, probably by dephosphorylating and inactivating the conventional protein kinase C (cPKC) isozyme PRKCB (By similarity). May also inactivate PRKCA and/or PRKCG (By similarity). Also important in oocytes for normal chromosome alignment on the metaphase plate and [...] " 9606.ENSP00000417185,VWA1,445,Von Willebrand factor A domain-containing protein 1; Promotes matrix assembly. 9606.ENSP00000417190,ATPAF2,289,ATP synthase mitochondrial F1 complex assembly factor 2; May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase); Belongs to the ATP12 family. 9606.ENSP00000417192,ZNF80,273,Zinc finger protein 80; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000417196,PCBP4,403,Poly(rC)-binding protein 4; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. 9606.ENSP00000417207,HOXB3,431,Homeobox protein Hox-B3; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. 9606.ENSP00000417214,PARP15,678,Protein mono-ADP-ribosyltransferase PARP15; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins. Acts as a negative regulator of transcription. 9606.ENSP00000417222,CPB1,417,Carboxypeptidase B1; Belongs to the peptidase M14 family. 9606.ENSP00000417229,EIF2A,585,"Eukaryotic translation initiation factor 2A, N-terminally processed; Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl- tRNAi to 40S ribosomal subunits. In contrast to the eIF-2 complex, it binds methionyl-tRNAi to 40S subunits in a codon-dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40S subunits in a GTP-dependent manner; Belongs to the WD repeat EIF2A family." 9606.ENSP00000417235,MED12L,2145,"Mediator of RNA polymerase II transcription subunit 12-like protein; May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By [...] " 9606.ENSP00000417261,GPR156,814,Probable G-protein coupled receptor 156; Orphan receptor; Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily. 9606.ENSP00000417273,NCK1,377,"Cytoplasmic protein NCK1; Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA. May play a role in cel [...] " 9606.ENSP00000417277,NBPF6,638,Neuroblastoma breakpoint family member 6; NBPF member 6. 9606.ENSP00000417289,CTAGE8,777,CTAGE family member 8. 9606.ENSP00000417291,REPIN1,624,"Replication initiator 1; Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5'- ATT-3' reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending." 9606.ENSP00000417303,KLF8,359,Krueppel-like factor 8; Transcriptional repressor and activator. Binds to CACCC-boxes promoter elements. Also binds the GT-box of cyclin D1 promoter and mediates cell cycle progression at G(1) phase as a downstream target of focal adhesion kinase (FAK). 9606.ENSP00000417330,KRTAP5-7,165,"Keratin-associated protein 5-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins." 9606.ENSP00000417335,ROBO2,1394,"Roundabout homolog 2; Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development; Belongs to the immunoglobulin superfamily. ROBO family." 9606.ENSP00000417354,GOLIM4,696,Golgi integral membrane protein 4; Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi. 9606.ENSP00000417378,ATP6V1F,147,V-type proton ATPase subunit F; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000417401,HELZ2,2649,"Helicase with zinc finger domain 2; Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA; Belongs to the DNA2/NAM7 helicase family." 9606.ENSP00000417402,PUS7,661,"Pseudouridylate synthase 7 homolog; Pseudouridylate synthase that catalyzes pseudouridylation of RNAs. Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex. Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3'. In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudour [...] " 9606.ENSP00000417404,HFE,348,Hereditary hemochromatosis protein; Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. 9606.ENSP00000417418,DNAJB8,232,DnaJ homolog subfamily B member 8; Efficient suppressor of aggregation and toxicity of disease- associated polyglutamine proteins. 9606.ENSP00000417434,B4DFI2_HUMAN,165,"Claudin; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000417451,RBMXL3,1067,"RNA-binding motif protein, X-linked-like-3; RBMX like 3." 9606.ENSP00000417464,RRP1,461,Ribosomal RNA processing protein 1 homolog A; Plays a critical role in the generation of 28S rRNA. Belongs to the RRP1 family. 9606.ENSP00000417470,ZNF786,782,Zinc finger protein 786; May be involved in transcriptional regulation. 9606.ENSP00000417492,FSD1L,530,FSD1-like protein; Fibronectin type III and SPRY domain containing 1 like. 9606.ENSP00000417498,MUC4,5412,Mucin-4 alpha chain; May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell- extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site- specific phosphorylation of the ERBB2 ' [...] 9606.ENSP00000417510,SUPT20H,811,"Transcription factor SPT20 homolog; Required for MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) activation during gastrulation. Required for down-regulation of E-cadherin during gastrulation by regulating E-cadherin protein level downstream from NCK-interacting kinase (NIK) and independently of the regulation of transcription by FGF signaling and Snail (By similarity). Required for starvation-induced ATG9A trafficking during autophagy. Belongs to the SPT20 family." 9606.ENSP00000417517,H0Y858_HUMAN,1186,Uncharacterized protein. 9606.ENSP00000417548,DNAJC24,149,"DnaJ homolog subfamily C member 24; Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta); Belongs to the DPH4 family." 9606.ENSP00000417556,H7C4K7_HUMAN,107,Uncharacterized protein. 9606.ENSP00000417559,NMD3,529,60S ribosomal export protein NMD3; Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit. 9606.ENSP00000417569,STIM2,754,"Stromal interaction molecule 2; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRA [...] " 9606.ENSP00000417573,YIPF6,236,Protein YIPF6; May be required for stable YIPF1 and YIPF2 protein expression. 9606.ENSP00000417580,IAH1,248,Isoamyl acetate-hydrolyzing esterase 1 homolog; Probable lipase; Belongs to the 'GDSL' lipolytic enzyme family. IAH1 subfamily. 9606.ENSP00000417581,FAM199X,388,"Protein FAM199X; Family with sequence similarity 199, X-linked; Belongs to the FAM199 family." 9606.ENSP00000417583,ST6GALNAC5,336,"Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; Involved in the biosynthesis of ganglioside GD1a from GM1b. It exhibits higher activity with glycolipids than with glycoproteins (By similarity)." 9606.ENSP00000417601,FBXL2,423,"F-box/LRR-repeat protein 2; Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degrad [...] " 9606.ENSP00000417602,MRPL47,250,Mitochondrial ribosomal protein L47; Belongs to the universal ribosomal protein uL29 family. 9606.ENSP00000417610,RAB23,237,"Ras-related protein Rab-23; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 pr [...] " 9606.ENSP00000417626,TMEM176A,235,Transmembrane protein 176A. 9606.ENSP00000417635,ANKUB1,502,Protein ANKUB1; Ankyrin repeat and ubiquitin domain containing 1. 9606.ENSP00000417653,DBNL,439,"Drebrin-like protein; Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological [...] " 9606.ENSP00000417654,SLC35A5,424,Probable UDP-sugar transporter protein SLC35A5; Solute carrier family 35 member A5. 9606.ENSP00000417659,PPM1L,360,"Protein phosphatase 1L; Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6. Belongs to the PP2C family." 9606.ENSP00000417677,ZBTB8OS,179,"Protein archease; Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation; Belongs to the archease family." 9606.ENSP00000417686,SLBP,270,"Histone RNA hairpin-binding protein; RNA-binding protein involved in the histone pre-mRNA processing. Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery. Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expressio [...] " 9606.ENSP00000417696,ZNF525,479,Zinc finger protein 525. 9606.ENSP00000417706,DCUN1D2,259,DCN1-like protein 2; Potently stimulates the neddylation of cullin components of SCF-type E3 ubiquitin ligase complexes from the NEDD8-conjugating E2 enzyme UBC12. Neddylation of cullins play an essential role in the regulation of SCF-type complexes activity. 9606.ENSP00000417710,DPPA2,298,"Developmental pluripotency-associated protein 2; Binds to target gene promoters, including NKX2-5 and SYCE1, but not GATA4, and may be involved in the maintenance of the active epigenetic status of these genes." 9606.ENSP00000417711,FAM205A,1335,Protein FAM205A; Family with sequence similarity 205 member A. 9606.ENSP00000417748,DDI2,399,"Protein DDI1 homolog 2; Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane. Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1. Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI1, for cellular survival following replication stress. Together or redudantly with DDI1, removes RTF2 from stalled forks to allow cel [...] " 9606.ENSP00000417763,NAA10,235,"N-alpha-acetyltransferase 10; Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. Acetylates amino termini that are devoid of initiator methionine. The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration. Acetylates, and stabili [...] " 9606.ENSP00000417764,ALG2,416,"Alpha-1,3/1,6-mannosyltransferase ALG2; Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily." 9606.ENSP00000417769,IQUB,791,IQ and ubiquitin-like domain-containing protein; May play roles in cilia formation and/or maintenance. 9606.ENSP00000417806,SMIM4,70,Small integral membrane protein 4. 9606.ENSP00000417841,EFCAB10,149,EF-hand calcium-binding domain-containing protein 10; EF-hand calcium binding domain 10. 9606.ENSP00000417864,ANP32A,249,"Acidic leucine-rich nuclear phosphoprotein 32 family member A; Implicated in a number of cellular processes, including proliferation, differentiation, caspase-dependent and caspase- independent apoptosis, suppression of transformation (tumor suppressor), inhibition of protein phosphatase 2A, regulation of mRNA trafficking and stability in association with ELAVL1, and inhibition of acetyltransferases as part of the INHAT (inhibitor of histone acetyltransferases) complex. Plays a role in E4F1-mediated transcriptional repression. Belongs to the ANP32 family." 9606.ENSP00000417898,PAEP,180,"Glycodelin; Glycoprotein that regulates critical steps during fertilization and also has immunomonomodulatory effects. Four glycoforms, namely glycodelin-S, -A, -F and -C have been identified in reproductive tissues that differ in glycosylation and biological activity. Glycodelin-A has contraceptive and immunosuppressive activities. Glycodelin-C stimulates binding of spermatozoa to the zona pellucida. Glycodelin-F inhibits spermatozoa-zona pellucida binding and significantly suppresses progesterone-induced acrosome reaction of spermatozoa. Glycodelin-S in seminal plasma maintains the u [...] " 9606.ENSP00000417901,GPHN,769,"Molybdopterin molybdenumtransferase; Microtubule-associated protein involved in membrane protein- cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. In the C-terminal section; belongs to the MoeA family." 9606.ENSP00000417914,ASB11,323,Ankyrin repeat and SOCS box protein 11; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000417919,TSPYL6,410,Testis-specific Y-encoded-like protein 6; TSPY like 6; Belongs to the nucleosome assembly protein (NAP) family. 9606.ENSP00000417955,VWA3B,1294,Von Willebrand factor A domain containing 3B. 9606.ENSP00000417960,CCDC39,941,"Coiled-coil domain-containing protein 39; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly ; Belongs to the CCDC39 family." 9606.ENSP00000417963,PPP2R5D,602,"Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; Belongs to the phosphatase 2A regulatory subunit B56 family." 9606.ENSP00000417980,EHMT1,1298,"Histone-lysine N-methyltransferase EHMT1; Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding [...] " 9606.ENSP00000418001,GK5,529,Glycerol kinase 5. 9606.ENSP00000418008,MRPS22,360,Mitochondrial ribosomal protein S22. 9606.ENSP00000418009,RARRES2,163,"Retinoic acid receptor responder protein 2; Adipocyte-secreted protein (adipokine) that regulates adipogenesis, metabolism and inflammation through activation of the chemokine-like receptor 1 (CMKLR1). Its other ligands include G protein-coupled receptor 1 (GPR1) and chemokine receptor-like 2 (CCRL2). Positively regulates adipocyte differentiation, modulates the expression of adipocyte genes involved in lipid and glucose metabolism and might play a role in angiogenesis, a process essential for the expansion of white adipose tissue. Also acts as a proinflammatory adipokine, causing an i [...] " 9606.ENSP00000418018,IFNE,208,"Interferon epsilon; Type I interferon required for maintaining basal levels of IFN-regulated genes, including 2'-5'-oligoadenylate synthetase, IRF7 and ISG15, in the female reproductive tract. Directly mediates protection against viral and bacterial genital infections (By similarity)." 9606.ENSP00000418037,IRF5,514,Interferon regulatory factor 5; Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines upon virus infection. Activated by TLR7 or TLR8 signaling; Belongs to the IRF family. 9606.ENSP00000418070,NECTIN3,549,"Nectin-3; Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans- interaction with NECTIN2 at Sertoli-spermatid junctions. Trans- interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morphol [...] " 9606.ENSP00000418081,CACNA2D2,1150,"Voltage-dependent calcium channel subunit alpha-2/delta-2; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q- type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis." 9606.ENSP00000418082,RPL37A,92,Ribosomal protein L37a. 9606.ENSP00000418086,C3orf14,128,Uncharacterized protein C3orf14; Chromosome 3 open reading frame 14. 9606.ENSP00000418096,SLC45A1,782,Proton-associated sugar transporter A; Proton-associated glucose transporter in the brain. Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. 9606.ENSP00000418112,PTPRG,1445,Receptor-type tyrosine-protein phosphatase gamma; Possesses tyrosine phosphatase activity. 9606.ENSP00000418193,SPRR2F,72,"Small proline-rich protein 2F; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity)." 9606.ENSP00000418194,PARP14,1801,"Protein mono-ADP-ribosyltransferase PARP14; ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate residues on target proteins. In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation. Has been shown to catalyze the mono-ADP-ribosylation of STAT1 at 'Glu-657' and 'Glu-705', thus decreasing STAT1 phosphorylation which negatively regulates pro-inflammatory cytokine production in macrophages in response to IFNG stimulation. However, the role of ADP-ribosylation in the prevention of STAT1 phosphorylation has been called into question and it has been [...] " 9606.ENSP00000418221,RPL7L1,255,Ribosomal protein L7 like 1. 9606.ENSP00000418232,NISCH,1504,"Nischarin; Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell- signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mi [...] " 9606.ENSP00000418259,ZFP57,536,"Zinc finger protein 57 homolog; Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant [...] " 9606.ENSP00000418268,MCM10,875,"Protein MCM10 homolog; Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38. Belongs to the MCM10 family." 9606.ENSP00000418287,CIAO1,339,"Probable cytosolic iron-sulfur protein assembly protein CIAO1; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilize [...] " 9606.ENSP00000418348,CMC1,106,"COX assembly mitochondrial protein homolog; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly." 9606.ENSP00000418379,TAF1L,1826,"Transcription initiation factor TFIID subunit 1-like; May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced. Belongs to the TAF1 family." 9606.ENSP00000418401,SRPRB,271,"Signal recognition particle receptor subunit beta; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity)." 9606.ENSP00000418438,NDUFA3,84,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000418447,PPP2CA,309,"Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform; PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase- mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at 'Ser-259'." 9606.ENSP00000418491,LCN10,200,Epididymal-specific lipocalin-10; May play a role in male fertility. May act as a retinoid carrier protein within the epididymis. 9606.ENSP00000418525,MME,750,"Neprilysin; Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond. Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9. Involved in the degradation of atrial natriuretic factor (ANF). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers. Belongs to the peptidase M13 family." 9606.ENSP00000418529,NSFL1C,372,"NSFL1 cofactor p47; Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP- mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase. Also, regulates spindle orientation during mitosis ; Belongs to [...] " 9606.ENSP00000418532,UGT1A3,534,UDP-glucuronosyltransferase 1-3; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1. 9606.ENSP00000418563,U2SURP,1029,U2 snRNP-associated SURP motif-containing protein; U2 snRNP associated SURP domain containing; Belongs to the splicing factor SR family. 9606.ENSP00000418572,VAMP2,118,Vesicle-associated membrane protein 2; Involved in the targeting and/or fusion of transport vesicles to their target membrane. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Belongs to the synaptobrevin family. 9606.ENSP00000418575,TAFA1,133,Chemokine-like protein TAFA-1; Regulatory factor which is ligand for GPR1 and is involved in the modulation of neural stem-cell proliferation and differentiation. Belongs to the TAFA family. 9606.ENSP00000418582,FHIT,147,"Bis(5'-adenosyl)-triphosphatase; Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosi [...] " 9606.ENSP00000418593,SNX21,373,"Sorting nexin-21; Binds to membranes enriched in phosphatidylinositol 3- phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking. Belongs to the sorting nexin family." 9606.ENSP00000418647,KRBA1,1064,Protein KRBA1; KRAB-A domain containing 1. 9606.ENSP00000418648,UBN2,1347,Ubinuclein-2; Ubinuclein 2; Belongs to the ubinuclein family. 9606.ENSP00000418653,C21orf62,219,Uncharacterized protein C21orf62; Chromosome 21 open reading frame 62. 9606.ENSP00000418661,PTRH1,214,peptidyl-tRNA hydrolase 1 homolog; Belongs to the PTH family. 9606.ENSP00000418668,CAVIN4,364,"Caveolae-associated protein 4; Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway ; Belongs to the C [...] " 9606.ENSP00000418669,SEPHS2,448,"Selenide, water dikinase 2; Synthesizes selenophosphate from selenide and ATP; Belongs to the selenophosphate synthase 1 family. Class I subfamily." 9606.ENSP00000418693,RWDD2B,319,RWD domain containing 2B. 9606.ENSP00000418695,PSMD6,442,"26S proteasome non-ATPase regulatory subunit 6; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S10 family." 9606.ENSP00000418719,ZNF273,569,Zinc finger protein 273; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000418721,PURG,347,Purine-rich element-binding protein gamma; Purine rich element binding protein G. 9606.ENSP00000418734,MYSM1,828,"Histone H2A deubiquitinase MYSM1; Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation. Required for correct regulation of hematopoiesis [...] " 9606.ENSP00000418735,ADAMTS9,1935,"A disintegrin and metalloproteinase with thrombospondin motifs 9; Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos." 9606.ENSP00000418748,ESRP2,717,"Epithelial splicing regulatory protein 2; mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2." 9606.ENSP00000418751,BTBD9,612,BTB/POZ domain-containing protein 9; BTB domain containing 9. 9606.ENSP00000418754,PTK7,1078,"Inactive tyrosine-protein kinase 7; Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily." 9606.ENSP00000418767,TREML2,321,Trem-like transcript 2 protein; Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation. 9606.ENSP00000418803,TIMMDC1,285,"Complex I assembly factor TIMMDC1, mitochondrial; Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. Belongs to the Tim17/Tim22/Tim23 family." 9606.ENSP00000418813,SELENOK,94,"Selenoprotein K; Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration (By similarity). Involved in endoplasmic reticulum-associated degradation (ERAD) of soluble glycosylated proteins. Required for palmitoylation and cell surface expression of CD36 and involved in macrophage uptake of low-density lipoprotein and in foam cell formation (By similarity). Together with ZDHHC6, required for palmitoylation of ITPR1 in immune cells, leading to regulate ITPR1 stability and function. Plays a role in protection of cells from ER [...] " 9606.ENSP00000418823,FTO,505,"Alpha-ketoglutarate-dependent dioxygenase FTO; RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis. Specifically demethylates N(6)- methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. M6A demethylation by FTO affects mRNA expression and stability. Also able to demethylate m6A in U6 small nuclear RNA (snRNA). Mediates demethylation of N(6),2'-O- dimethyladenosine cap (m6A(m)), by demethylating [...] " 9606.ENSP00000418875,ENSP00000418875,385,Probable threonine protease PRSS50. 9606.ENSP00000418910,SELENOT,195,"Thioredoxin reductase-like selenoprotein T; Selenoprotein with thioredoxin reductase-like oxidoreductase activity (By similarity). Protects dopaminergic neurons against oxidative stress ans cell death. Involved in ADCYAP1/PACAP-induced calcium mobilization and neuroendocrine secretion (By similarity). Plays a role in fibroblast anchorage and redox regulation (By similarity). In gastric smooth muscle, modulates the contraction processes through the regulation of calcium release and MYLK activation (By similarity). In pancreatic islets, involved in the control of glucose homeostasis, con [...] " 9606.ENSP00000418915,CDKN2A,167,Cyclin-dependent kinase inhibitor 2A; Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family. 9606.ENSP00000418944,PEG10,401,"Retrotransposon-derived protein PEG10; Prevents apoptosis in hepatocellular carcinoma (HCC) cells through interaction with SIAH1, a mediator of apoptosis. May also have a role in cell growth promotion and hepatoma formation. Inhibits the TGF-beta signaling by interacting with the TGF-beta receptor ALK1. When overexpressed, induces the formation of cellular extension, such as filipodia in association with ALK1. Involved at the immediate early stage of adipocyte differentiation (By similarity). May bind to the 5'- GCCTGTCTTT-3' DNA sequence of the MB1 domain in the myelin basic protein ( [...] " 9606.ENSP00000418960,BRCA1,1884,"Breast cancer type 1 susceptibility protein; E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic [...] " 9606.ENSP00000418983,BNIP5,652,BCL2 interacting protein 5. 9606.ENSP00000418994,SYNPR,285,Synaptoporin; Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity); Belongs to the synaptophysin/synaptobrevin family. 9606.ENSP00000419000,LSAMP,338,Limbic system-associated membrane protein; Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hyppocampal mossy fiber projection (By similarity); Belongs to the immunoglobulin superfamily. IgLON family. 9606.ENSP00000419005,UTP25,756,Digestive organ expansion factor homolog; Regulates the p53 pathway to control the expansion growth of digestive organs. 9606.ENSP00000419027,PCCB,559,"Propionyl-CoA carboxylase beta chain, mitochondrial; This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other metabolites. Propionyl-CoA carboxylase catalyzes the carboxylation of propionyl-CoA/propanoyl-CoA to D-methylmalonyl- CoA/(S)-methylmalonyl-CoA. Within the holoenzyme, the alpha subunit catalyzes the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain [...] " 9606.ENSP00000419060,BRAF,767,"Serine/threonine-protein kinase B-raf; Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway. May play a role in the postsynaptic responses of hippocampal neurons ; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily." 9606.ENSP00000419081,CALML4,196,Calmodulin-like protein 4; Calmodulin like 4; Belongs to the calmodulin family. 9606.ENSP00000419085,TIGIT,244,T-cell immunoreceptor with Ig and ITIM domains; Binds with high affinity to the poliovirus receptor (PVR) which causes increased secretion of IL10 and decreased secretion of IL12B and suppresses T-cell activation by promoting the generation of mature immunoregulatory dendritic cells. 9606.ENSP00000419087,NDUFB2,105,"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000419088,FAM162A,154,"Protein FAM162A; Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues. May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition. May be involved in hypoxia- induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly." 9606.ENSP00000419101,CACNA2D3,1091,"Voltage-dependent calcium channel subunit alpha-2/delta-3; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q- type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity)." 9606.ENSP00000419119,OR10C1,312,Olfactory receptor 10C1; Odorant receptor. 9606.ENSP00000419124,FAM107A,175,"Actin-associated protein FAM107A; Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F- actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal [...] " 9606.ENSP00000419126,C10orf88,445,"ATPase PAAT; ATPase that regulates mitochondrial ABC transporters ABCB7, ABCB8/MITOSUR and ABCB10. Regulates mitochondrial ferric concentration and heme biosynthesis and plays a role in the maintenance of mitochondrial homeostasis and cell survival." 9606.ENSP00000419153,ZBTB20,741,"Zinc finger and BTB domain-containing protein 20; May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity)." 9606.ENSP00000419160,SPATA45,98,Spermatogenesis-associated protein 45; Spermatogenesis associated 45; Belongs to the SPATA45 family. 9606.ENSP00000419162,WDR86,482,WD repeat domain 86. 9606.ENSP00000419184,SMYD3,428,"Histone-lysine N-methyltransferase SMYD3; Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but not monomethylation. Also methylates 'Lys-5' of histone H4. Plays an important role in transcriptional activation as a member of an RNA polymerase complex. Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences ; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family." 9606.ENSP00000419185,ONECUT2,504,One cut domain family member 2; Transcriptional activator. Activates the transcription of a number of liver genes such as HNF3B; Belongs to the CUT homeobox family. 9606.ENSP00000419194,MSMP,139,Prostate-associated microseminoprotein; Acts as a ligand for C-C chemokine receptor CCR2. Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions. Exhibits a chemotactic activity for monocytes and lymphocytes but not neutrophils. 9606.ENSP00000419195,CAMKV,501,CaM kinase-like vesicle-associated protein; Does not appear to have detectable kinase activity; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. 9606.ENSP00000419199,ASB14,587,Ankyrin repeat and SOCS box protein 14; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000419235,TCAF1,921,TRPM8 channel-associated factor 1; Positively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration inhibition in a TRPM8-dependent manner. 9606.ENSP00000419243,FXN,210,"Frataxin intermediate form; Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has on [...] " 9606.ENSP00000419249,RIIAD1,92,RIIa domain-containing protein 1; Regulatory subunit of type II PKA R-subunit domain containing 1. 9606.ENSP00000419260,PIK3CG,1102,"Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G-protein coupled receptor activation to PIP3 production. Involved in immune, inflammatory and allergic responses. Modulates [...] " 9606.ENSP00000419266,EVX1,407,Homeobox even-skipped homolog protein 1; May play a role in the specification of neuronal cell types. 9606.ENSP00000419270,PRKRIP1,184,PRKR-interacting protein 1; Required for pre-mRNA splicing as component of the spliceosome. Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity). 9606.ENSP00000419279,TTC26,554,"Intraflagellar transport protein 56; Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT compl [...] " 9606.ENSP00000419298,POU5F1B,359,"Putative POU domain, class 5, transcription factor 1B; Shows weak transcriptional activator activity." 9606.ENSP00000419313,TRPC1,793,Short transient receptor potential channel 1; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G- protein coupled receptors. Seems to be also activated by intracellular calcium store depletion. 9606.ENSP00000419325,SUCLG2,440,"Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial; GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit." 9606.ENSP00000419361,ADCY5,1261,Adenylate cyclase type 5; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates signaling downstream of ADRB1. Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion. 9606.ENSP00000419370,MALSU1,234,"Mitochondrial assembly of ribosomal large subunit protein 1; Required for normal mitochondrial ribosome function and mitochondrial translation. May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits (Probable). Addition to isolated mitochondrial ribosomal subunits partially inhibits translation, probably by interfering with the association of [...] " 9606.ENSP00000419371,AZI2,392,5-azacytidine-induced protein 2; Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity. Activates serine/threonine-protein kinase TBK1 and facilitates its oligomerization. Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1. Promotes TBK1-induced as well as TNF-alpha or PMA-induced activation of NF-kappa-B. Participates in IFNB promoter activation via TICAM1. 9606.ENSP00000419377,ZNF717,864,Zinc finger protein 717; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000419378,CLIC3,236,Chloride intracellular channel protein 3; Can insert into membranes and form chloride ion channels. May participate in cellular growth control; Belongs to the chloride channel CLIC family. 9606.ENSP00000419395,CDNF,187,"Cerebral dopamine neurotrophic factor; Trophic factor for dopamine neurons. Prevents the 6- hydroxydopamine (6-OHDA)-induced degeneration of dopaminergic neurons. When administered after 6-OHDA-lesioning, restores the dopaminergic function and prevents the degeneration of dopaminergic neurons in substantia nigra (By similarity)." 9606.ENSP00000419397,ZNF782,699,Zinc finger protein 782; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000419411,GCNT2,402,"N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; Branching enzyme that converts linear into branched poly-N- acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells; Belongs to the glycosyltransferase 14 family." 9606.ENSP00000419412,SLC4A2,1241,Anion exchange protein 2; Plasma membrane anion exchange protein of wide distribution. 9606.ENSP00000419413,ARMC8,673,Armadillo repeat-containing protein 8; Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. 9606.ENSP00000419417,C1orf52,182,UPF0690 protein C1orf52; Chromosome 1 open reading frame 52; Belongs to the UPF0690 family. 9606.ENSP00000419425,PPIA,165,"Peptidyl-prolyl cis-trans isomerase A, N-terminally processed; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides." 9606.ENSP00000419446,ADAM9,819,"Disintegrin and metalloproteinase domain-containing protein 9; Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins." 9606.ENSP00000419449,EIF1,113,Eukaryotic translation initiation factor 1; Necessary for scanning and involved in initiation site selection. Promotes the assembly of 48S ribosomal complexes at the authentic initiation codon of a conventional capped mRNA. 9606.ENSP00000419454,RNF183,192,E3 ubiquitin-protein ligase RNF183; Acts as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Triggers apoptosis in response to prolonged ER stress by mediating the polyubiquitination and subsequent proteasomal degradation of BCL2L1. May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling. 9606.ENSP00000419457,NOBOX,691,"Homeobox protein NOBOX; Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG-3' and 5'-TAATTA-3'." 9606.ENSP00000419465,WWTR1,400,"WW domain-containing transcription regulator protein 1; Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances [...] " 9606.ENSP00000419475,COMMD2,199,COMM domain-containing protein 2; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF- kappa-B. 9606.ENSP00000419485,GCSAM,180,"Germinal center-associated signaling and motility protein; Involved in the negative regulation of lymphocyte motility. It mediates the migration-inhibitory effects of IL6. Serves as a positive regulator of the RhoA signaling pathway. Enhancement of RhoA activation results in inhibition of lymphocyte and lymphoma cell motility by activation of its downstream effector ROCK. Is a regulator of B-cell receptor signaling, that acts through SYK kinase activation." 9606.ENSP00000419494,RYBP,218,"RING1 and YY1-binding protein; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1-like complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Component of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one co [...] " 9606.ENSP00000419502,LRRC75A,344,Leucine-rich repeat-containing protein 75A; Leucine rich repeat containing 75A. 9606.ENSP00000419503,HACD4,232,"Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4; Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursor [...] " 9606.ENSP00000419539,CTAGE4,777,cTAGE family member 4; Tumor-associated antigen; Belongs to the cTAGE family. 9606.ENSP00000419545,GIMAP4,343,"GTPase IMAP family member 4; During thymocyte development, may play a role in the regulation of apoptosis (By similarity). GTPase which exhibits a higher affinity for GDP than for GTP." 9606.ENSP00000419599,DPH3,82,"DPH3 homolog; Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 (EEF2) and which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta); Belongs to the DPH3 family." 9606.ENSP00000419619,ARL6,186,"ADP-ribosylation factor-like protein 6; Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent [...] " 9606.ENSP00000419628,NUDT5,219,"ADP-sugar pyrophosphatase; Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate. In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP. Can also hydrolyze other nucleotide sugars with low activity. In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5-phosphate. Nuclear ATP synthesis takes place w [...] " 9606.ENSP00000419652,TTC12,711,Tetratricopeptide repeat domain 12. 9606.ENSP00000419654,DENND2A,1009,"DENN domain-containing protein 2A; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport." 9606.ENSP00000419665,SSBP1,148,"Single-stranded DNA-binding protein, mitochondrial; Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays crucial roles during mtDNA replication that stimulate activity of the replisome components POLG and TWNK at the replication fork. Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity. In addition it is able to promote the 5 [...] " 9606.ENSP00000419692,RXRA,462,"Retinoic acid receptor RXR-alpha; Receptor for retinoic acid that acts as a transcription factor. Forms homo- or heterodimers with retinoic acid receptors (RARs) and binds to target response elements in response to their ligands, all-trans or 9-cis retinoic acid, to regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 to regulate transcription. The high affinity ligand for retinoid X receptors (RXRs) is 9-cis retinoic acid. In the absence of ligand, th [...] " 9606.ENSP00000419705,KNCN,124,Kinocilin; May play a role in stabilizing dense microtubular networks or in vesicular trafficking. 9606.ENSP00000419712,MYMK,221,"Protein myomaker; Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satell [...] " 9606.ENSP00000419740,NSUN4,384,5-methylcytosine rRNA methyltransferase NSUN4; Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4; B [...] 9606.ENSP00000419765,BRD9,597,"Bromodomain-containing protein 9; Plays a role in chromatin remodeling and regulation of transcription. Acts as a chromatin reader that recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA- histone contacts within a nucleosome in an ATP-dependent manner." 9606.ENSP00000419782,CDK5,292,"Cyclin-dependent-like kinase 5; Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM. Regulates several neu [...] " 9606.ENSP00000419786,RTL9,1388,Retrotransposon Gag like 9. 9606.ENSP00000419803,KLHL13,658,Kelch-like protein 13; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. 9606.ENSP00000419834,KIAA2012,1181,Uncharacterized protein KIAA2012; KIAA2012. 9606.ENSP00000419851,GMPS,693,"GMP synthase [glutamine-hydrolyzing]; Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division." 9606.ENSP00000419879,CDS2,445,"Phosphatidate cytidylyltransferase 2; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin." 9606.ENSP00000419881,RAD51B,425,"DNA repair protein RAD51 homolog 2; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersecti [...] " 9606.ENSP00000419901,L1TD1,865,LINE1 type transposase domain containing 1. 9606.ENSP00000419923,KLF6,283,Krueppel-like factor 6; Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development. 9606.ENSP00000419944,PXT1,134,Peroxisomal testis enriched protein 1. 9606.ENSP00000419945,ERVW-1,538,Transmembrane protein; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5. 9606.ENSP00000419952,KCNAB1,419,"Voltage-gated potassium channel subunit beta-1; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members. Promotes the clos [...] " 9606.ENSP00000419970,POR,680,NADPH--cytochrome P450 reductase; This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5; Belongs to the NADPH--cytochrome P450 reductase family. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. 9606.ENSP00000419975,PEX5L,626,"PEX5-related protein; Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence; Belongs to the peroxisomal targeting signal receptor family." 9606.ENSP00000420009,HOXB6,224,Homeobox protein Hox-B6; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. 9606.ENSP00000420037,PIGP,158,"Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis; Belongs to the PIGP family." 9606.ENSP00000420040,KCNIP2,285,"Kv channel-interacting protein 2; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity)." 9606.ENSP00000420065,ABHD14B,210,Protein ABHD14B; Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription. 9606.ENSP00000420076,SERP1,66,Stress-associated endoplasmic reticulum protein 1; Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins (By similarity); Belongs to the RAMP4 family. 9606.ENSP00000420091,SLITRK3,977,SLIT and NTRK-like protein 3; Suppresses neurite outgrowth. 9606.ENSP00000420127,RAB9A,201,"Ras-related protein Rab-9A; Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes. Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000420132,PLSCR2,297,"Phospholipid scramblase 2; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system." 9606.ENSP00000420161,B4GALT4,344,"Beta-1,4-galactosyltransferase 4; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids; Belongs to the glycosyltransferase 7 family." 9606.ENSP00000420168,GSTA2,222,Glutathione S-transferase A2; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Belongs to the GST superfamily. Alpha family. 9606.ENSP00000420174,ERVFRD-1,538,Transmembrane protein; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process. 9606.ENSP00000420176,POLE4,117,DNA polymerase epsilon subunit 4; Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication (By similarity). 9606.ENSP00000420180,CCDC14,912,Coiled-coil domain-containing protein 14; Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization. 9606.ENSP00000420182,IQCJ-SCHIP1,563,IQCJ-SCHIP1 readthrough transcript protein; May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments. May also play a role in axon outgrowth and guidance (By similarity). 9606.ENSP00000420194,CASR,1088,"Extracellular calcium-sensing receptor; G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as T [...] " 9606.ENSP00000420195,SRSF10,262,"Serine/arginine-rich splicing factor 10; Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing. Seems to interfere with the U1 snRNP 5'-splice recognition of SNRNP70. Required for splicing repression in M-phase cells and after heat shock. Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, lead [...] " 9606.ENSP00000420200,ADPRH,357,[Protein ADP-ribosylarginine] hydrolase; Specifically acts as a arginine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to arginine residues on proteins. 9606.ENSP00000420211,RGL2,777,Ral guanine nucleotide dissociation stimulator-like 2; Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity). 9606.ENSP00000420213,FLNB,2633,Filamin-B; Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro; Belongs to the filamin family. 9606.ENSP00000420237,CPA5,436,Carboxypeptidase A5; Belongs to the peptidase M14 family. 9606.ENSP00000420256,CYLC2,348,Cylicin-2; Possible architectural role during spermatogenesis. May be involved in spermatid differentiation. 9606.ENSP00000420267,NR6A1,480,Nuclear receptor subfamily 6 group A member 1; Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity). 9606.ENSP00000420269,ADH7,394,"All-trans-retinol dehydrogenase [NAD(+)] ADH7; Catalyzes the NAD-dependent oxidation of all-trans-retinol, alcohol, and omega-hydroxy fatty acids and their derivatives. Oxidizes preferentially all trans-retinol, all-trans-4-hydroxyretinol, 9-cis- retinol, 2-hexenol, and long chain omega-hydroxy fatty acids such as juniperic acid. In vitro can also catalyzes the NADH-dependent reduction of all-trans- retinal and aldehydes and their derivatives. Reduces preferentially all trans- retinal, all-trans-4-oxoretinal and hexanal. Catalyzes in the oxidative direction with higher efficiency. Ther [...] " 9606.ENSP00000420270,UHMK1,419,"Serine/threonine-protein kinase Kist; Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity)." 9606.ENSP00000420294,PHC3,995,"Polyhomeotic-like protein 3; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility." 9606.ENSP00000420295,PDE6B,854,"Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta; This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme; Belongs to the cyclic nucleotide phosphodiesterase family." 9606.ENSP00000420298,CD200,294,OX-2 membrane glycoprotein; Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues. 9606.ENSP00000420306,THOC5,683,"THO complex subunit 5 homolog; Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap- dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essentia [...] " 9606.ENSP00000420311,RPL23,140,Ribosomal protein L23. 9606.ENSP00000420321,ROBO1,1651,"Roundabout homolog 1; Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1. In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its intera [...] " 9606.ENSP00000420357,RWDD1,243,RWD domain-containing protein 1; Protects DRG2 from proteolytic degradation; Belongs to the RWDD1/GIR2 family. 9606.ENSP00000420384,CST7,145,Cystatin-F; Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system. 9606.ENSP00000420387,ATP11A,1134,"Probable phospholipid-transporting ATPase IH; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib." 9606.ENSP00000420418,ZNF398,642,Zinc finger protein 398; Functions as a transcriptional activator. 9606.ENSP00000420443,CNIH4,139,"Protein cornichon homolog 4; Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery. Belongs to the cornichon family." 9606.ENSP00000420449,MGAM2,2515,Maltase-glucoamylase 2. 9606.ENSP00000420465,RNF182,247,E3 ubiquitin-protein ligase RNF182; E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway. Plays also a role in the inhibition of TLR- triggered innate immune response by mediating 'Lys'-48-linked ubiquitination and subsequent degradation of NF-kappa-B component RELA. 9606.ENSP00000420477,NACAD,1562,"NAC-alpha domain-containing protein 1; May prevent inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). May bind to nascent polypeptide chains as they emerge from the ribosome and block their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. May also reduce the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity); Belongs to the NAC-alpha family." 9606.ENSP00000420484,OARD1,152,"ADP-ribose glycohydrolase OARD1; ADP-ribose glycohydrolase that hydrolyzes ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on glutamate and O-acetyl-ADP-D-ribose. Specifically acts as a glutamate mono-ADP- ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins. Does not act on poly-ADP-ribosylated proteins: the poly-ADP-ribose chain of poly-ADP-ribosylated glutamate residues must by hydrolyzed into mono-ADP-ribosylated glutamate by PARG to become a substrate for OARD1. Deacetylates O-acetyl-ADP ribose, a sig [...] " 9606.ENSP00000420525,TFR2,801,"Transferrin receptor protein 2; Mediates cellular uptake of transferrin-bound iron in a non- iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation; Belongs to the peptidase M28 family. M28B subfamily." 9606.ENSP00000420588,TFAM,246,"Transcription factor A, mitochondrial; Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation. Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA. In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand. Required for accurate and efficient promoter recognition by the mitochondrial RNA polymeras [...] " 9606.ENSP00000420608,EMC1,993,ER membrane protein complex subunit 1; Belongs to the EMC1 family. 9606.ENSP00000420610,C6orf201,140,Uncharacterized protein C6orf201; Chromosome 6 open reading frame 201. 9606.ENSP00000420612,TIPARP,657,"Protein mono-ADP-ribosyltransferase TIPARP; ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate, aspartate and cysteine residues on target proteins. Acts as a negative regulator of AHR by mediating mono-ADP-ribosylation of AHR, leading to inhibit transcription activator activity of AHR." 9606.ENSP00000420616,TFDP2,446,"Transcription factor Dp-2; Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell- cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters." 9606.ENSP00000420617,MFN1,741,"Mitofusin-1; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion. Membrane clustering requires GTPase activity. It may involve a major rearrangement of the coiled coil domains. Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events. Overexpression induces the formation of mitochondrial networks (in vitro). Has low GTPase activity." 9606.ENSP00000420641,SSR3,198,Translocon-associated protein subunit gamma; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins; Belongs to the TRAP-gamma family. 9606.ENSP00000420658,TMEM14B,151,"Transmembrane protein 14B; Primate-specific protein involved in cortical expansion and folding in the developing neocortex. May drive neural progenitor proliferation through nuclear translocation of IQGAP1, which in turn promotes G1/S cell cycle transitions." 9606.ENSP00000420659,KLHL29,875,Kelch-like protein 29; Kelch like family member 29. 9606.ENSP00000420682,QTRT2,427,"Queuine tRNA-ribosyltransferase accessory subunit 2; Non-catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine)." 9606.ENSP00000420686,PLCXD2,305,PI-PLC X domain-containing protein 2; Phosphatidylinositol specific phospholipase C X domain containing 2. 9606.ENSP00000420714,MRPS14,128,Mitochondrial ribosomal protein S14. 9606.ENSP00000420716,ARMH1,440,Armadillo like helical domain containing 1. 9606.ENSP00000420723,KRTAP5-8,187,"Keratin-associated protein 5-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family." 9606.ENSP00000420727,ZNF181,571,Zinc finger protein 181; May be involved in transcriptional regulation. 9606.ENSP00000420826,PRB1,198,Basic salivary proline-rich protein 1; Proline rich protein BstNI subfamily 1. 9606.ENSP00000420840,PCDHA1,950,Protocadherin alpha-1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000420849,NIM1K,436,NIM1 serine/threonine protein kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. 9606.ENSP00000420854,EFCAB12,572,EF-hand calcium-binding domain-containing protein 12; EF-hand calcium binding domain 12. 9606.ENSP00000420860,PRIMPOL,560,"DNA-directed primase/polymerase protein; DNA primase and DNA polymerase required to tolerate replication-stalling lesions by bypassing them. Required to facilitate mitochondrial and nuclear replication fork progression by initiating de novo DNA synthesis using dNTPs and acting as an error-prone DNA polymerase able to bypass certain DNA lesions. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Provides different translesion synthesis alternatives when DNA replication is stalled: able to synthesize DNA primers downstream of lesions, such as ultr [...] " 9606.ENSP00000420875,RMND5B,393,"E3 ubiquitin-protein transferase RMND5B; Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. Catalytic activity of the complex is required for normal cell proliferation. The CTLH E3 ubiquitin- protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1." 9606.ENSP00000420919,TMEM150C,249,Transmembrane protein 150C; Component of a mechanosensitive cation channel. Confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception; Belongs to the DRAM/TMEM150 family. 9606.ENSP00000420927,PDK2,407,"[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial; Kinase that plays a key role in the regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular [...] " 9606.ENSP00000420949,ENSP00000420949,117,Novel protein. 9606.ENSP00000421021,HERC3-2,1042,Probable E3 ubiquitin-protein ligase HERC3. 9606.ENSP00000421048,SPINK13,94,"Serine protease inhibitor Kazal-type 13; May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity)." 9606.ENSP00000421076,ATP5MGL,100,"Putative ATP synthase subunit g 2, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism [...] " 9606.ENSP00000421131,FAM90A26,464,Putative protein FAM90A26; Family with sequence similarity 90 member A26; Belongs to the FAM90 family. 9606.ENSP00000421169,BEND4,534,BEN domain containing 4. 9606.ENSP00000421172,AWAT2,333,"Acyl-CoA wax alcohol acyltransferase 2; Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters. Shows a preference for medium chain acyl-CoAs from C12 to C16 in length and fatty alcohols shorter than C20, as the acyl donors and acceptors, respectively. Also possesses acyl- CoA retinol acyltransferase (ARAT) activity that catalyzes 11-cis- specific retinyl ester synthesis. Shows higher catalytic efficiency toward 11-cis-retinol versus 9-cis- retinol, 13-cis-retinol, and all-trans-retinol substrates." 9606.ENSP00000421180,MAML3,1138,Mastermind-like protein 3; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Belongs to the mastermind family. 9606.ENSP00000421185,MGAT4D,374,"Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D; May play a role in male spermatogenesis. In vitro acts as inhibitor of MGAT1 activity causing cell surface proteins to carry mainly high mannose N-glycans. The function is mediated by its lumenal domain and occurs specifically in the Golgi. A catalytic glucosyltransferase activity is not detected. May be involved in regulation of Sertoli-germ cell interactions during specific stages of spermatogenesis; Belongs to the glycosyltransferase 54 family." 9606.ENSP00000421191,IGSF22,1326,Immunoglobulin superfamily member 22. 9606.ENSP00000421232,LY6G6F-LY6G6D,382,Lymphocyte antigen 6 complex locus protein G6d. 9606.ENSP00000421258,ZNF154,437,Zinc finger protein 154; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000421275,SLC10A7,358,"Sodium/bile acid cotransporter 7; Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization. Also involved in the regulation of cellular calcium homeostasis. Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate). Belongs to the bile acid:sodium symp [...] " 9606.ENSP00000421280,MYO10,2058,"Unconventional myosin-X; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons i [...] " 9606.ENSP00000421294,SH3D21,645,SH3 domain containing 21. 9606.ENSP00000421315,K7N7A8_HUMAN,449,DUF4205 domain-containing protein; Belongs to the MIP/aquaporin (TC 1.A.8) family. 9606.ENSP00000421326,ATP2C1,973,Calcium-transporting ATPase type 2C member 1; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. 9606.ENSP00000421339,SLCO6A1,719,Solute carrier organic anion transporter family member 6A1. 9606.ENSP00000421377,PIEZO2,2752,Piezo-type mechanosensitive ion channel component 2; Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light-touch mechanosensation. 9606.ENSP00000421380,SNF8,258,"Vacuolar-sorting protein SNF8; Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with [...] " 9606.ENSP00000421405,ROPN1L,230,"Ropporin-1-like protein; Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation." 9606.ENSP00000421489,TIGD5,642,Tigger transposable element derived 5. 9606.ENSP00000421491,XRCC4,336,"DNA repair protein XRCC4; Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends." 9606.ENSP00000421544,PCBD2,130,Pterin-4-alpha-carbinolamine dehydratase 2; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity). 9606.ENSP00000421557,GPR33,333,Probable G-protein coupled receptor 33; Orphan receptor; could be a chemoattractant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000421566,XPNPEP1,666,"Xaa-Pro aminopeptidase 1; Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro." 9606.ENSP00000421586,GOLGA6L4,574,Golgin subfamily A member 6-like protein 4; Golgin A6 family like 4; Belongs to the GOLGA6 family. 9606.ENSP00000421592,ALYREF,264,"THO complex subunit 4; Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region [...] " 9606.ENSP00000421686,SPDYE2,402,Speedy protein E2; speedy/RINGO cell cycle regulator family member E2; Belongs to the Speedy/Ringo family. 9606.ENSP00000421710,GNGT2,69,"Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction." 9606.ENSP00000421725,GC,493,"Vitamin D-binding protein; Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation. Belongs to the ALB/AFP/VDB family." 9606.ENSP00000421736,CR1L,569,Complement component receptor 1-like protein; Complement C3b/C4b receptor 1 like; Belongs to the receptors of complement activation (RCA) family. 9606.ENSP00000421799,D6RAR5_HUMAN,112,Homeobox domain-containing protein. 9606.ENSP00000421801,HGFAC,662,Hepatocyte growth factor activator short chain; Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form; Belongs to the peptidase S1 family. 9606.ENSP00000421842,ANAPC13,74,"Anaphase-promoting complex subunit 13; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains." 9606.ENSP00000421853,RANBP3L,490,Ran-binding protein 3-like; Nuclear export factor for BMP-specific SMAD1/5/8 that plays a critical role in terminating BMP signaling and regulating mesenchymal stem cell differentiation by blocking osteoblast differentiation to promote myogenic differention. Directly recognizes dephosphorylated SMAD1/5/8 and mediates their nuclear export in a Ran-dependent manner. 9606.ENSP00000421861,MAGED4B,757,Melanoma-associated antigen D4; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. 9606.ENSP00000421863,ZNF827,1081,Zinc finger protein 827; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000421868,CCDC169-SOHLH2,502,CCDC169-SOHLH2 readthrough. 9606.ENSP00000421871,DCANP1,244,Dendritic cell nuclear protein 1; Binds with and transactivates the corticotropin-releasing hormone (CRH) promoter. 9606.ENSP00000421915,ZNF672,452,Zinc finger protein 672; May be involved in transcriptional regulation. 9606.ENSP00000421917,HMGXB3,1292,HMG-box containing 3. 9606.ENSP00000421926,UIMC1,719,"BRCA1-A complex subunit RAP80; Ubiquitin-binding protein. Specifically recognizes and binds 'Lys-63'-linked ubiquitin (Ref.37). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'- linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ub [...] " 9606.ENSP00000421965,PRRC1,462,Protein PRRC1; Proline rich coiled-coil 1. 9606.ENSP00000421981,PAQR3,311,Progestin and adipoQ receptor family member 3; Functions as a spatial regulator of RAF1 kinase by sequestrating it to the Golgi; Belongs to the ADIPOR family. 9606.ENSP00000421985,FNIP1,1166,"Folliculin-interacting protein 1; Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. Belongs to the FNIP family." 9606.ENSP00000422007,ACTN3,944,Alpha-actinin-3; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. 9606.ENSP00000422037,NFXL1,911,"NF-X1-type zinc finger protein NFXL1; Nuclear transcription factor, X-box binding like 1." 9606.ENSP00000422067,FAM47E-STBD1,351,FAM47E-STBD1 readthrough. 9606.ENSP00000422097,USP17L25,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 24; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection; Belongs to the peptidase C19 family. USP17 subfamily." 9606.ENSP00000422131,FAM193B,822,Protein FAM193B; Family with sequence similarity 193 member B; Belongs to the FAM193 family. 9606.ENSP00000422176,CAST,769,Calpastatin; Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue; Belongs to the protease inhibitor I27 (calpastatin) family. 9606.ENSP00000422185,SORCS2,1159,"VPS10 domain-containing receptor SorCS2; The heterodimer formed by NGFR and SORCS2 functions as receptor for the precursor forms of NGF (proNGF) and BDNF (proBDNF). ProNGF and proBDNF binding both promote axon growth cone collapse (in vitro). Plays a role in the regulation of dendritic spine density in hippocampus neurons (By similarity). Required for normal neurite branching and extension in response to BDNF. Plays a role in BDNF-dependent hippocampal synaptic plasticity. Together with NGFR and NTRK2, is required both for BDNF-mediated synaptic long-term depression and long-term poten [...] " 9606.ENSP00000422188,TTC23L,361,Tetratricopeptide repeat domain 23 like. 9606.ENSP00000422216,USP17L21,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 21; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000422338,ATPSCKMT,233,"ATP synthase subunit C lysine N-methyltransferase; Mitochondrial protein-lysine N-methyltransferase that trimethylates ATP synthase subunit C, ATP5MC1 and ATP5MC2. Trimethylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration. Promotes chronic pain. Involved in persistent inflammatory and neuropathic pain: methyltransferase activity in the mitochondria of sensory neurons promotes chronic pain via a pathway that depends on the production of reactive oxygen species (ROS) and on the engagement of spinal cord microglia." 9606.ENSP00000422354,GSTCD,633,Glutathione S-transferase C-terminal domain containing; Belongs to the GSTCD family. 9606.ENSP00000422375,NUDT16,227,U8 snoRNA-decapping enzyme; RNA-binding and decapping enzyme that catalyzes the cleavage of the cap structure of snoRNAs and mRNAs in a metal-dependent manner. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and/or m227G caps from U8 snoRNA and leaves a 5'monophosphate on the RNA. Catalyzes also the cleavage of the cap structure on mRNAs. Does not hydrolyze cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG). Also hydrolysis m7G- and m227G U3-capped RNAs but with less [...] 9606.ENSP00000422431,TMEM158,300,"Transmembrane protein 158; Receptor for brain injury-derived neurotrophic peptide (BINP), a synthetic 13-mer peptide." 9606.ENSP00000422435,RPS6KA2,758,"Ribosomal protein S6 kinase alpha-2; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells." 9606.ENSP00000422449,H0Y8X5_HUMAN,98,Uncharacterized protein. 9606.ENSP00000422464,PDGFC,345,"Platelet-derived growth factor C, receptor-binding form; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in [...] " 9606.ENSP00000422473,TMEM33,247,Transmembrane protein 33; Acts as a regulator of the tubular endoplasmic reticulum (ER) network. Suppresses the RTN3/4-induced formation of the ER tubules. Positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling. Belongs to the PER33/POM33 family. 9606.ENSP00000422496,TTC39B,682,Tetratricopeptide repeat protein 39B; Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3). 9606.ENSP00000422533,ADGRL3,1469,Adhesion G protein-coupled receptor L3; Plays a role in cell-cell adhesion and neuron guidance via its interactions with FLRT2 and FLRT3 that are expressed at the surface of adjacent cells. Plays a role in the development of glutamatergic synapses in the cortex. Important in determining the connectivity rates between the principal neurons in the cortex. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. 9606.ENSP00000422554,ADAMTS12,1594,A disintegrin and metalloproteinase with thrombospondin motifs 12; Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti- tumorigenic properties. 9606.ENSP00000422581,TRIML2,437,Probable E3 ubiquitin-protein ligase TRIML2; Tripartite motif family like 2. 9606.ENSP00000422591,SLIT2,1529,"Slit homolog 2 protein C-product; Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions. SLIT1 and SLIT2 seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. In spinal chord development may play a role in guiding commissural axons [...] " 9606.ENSP00000422607,ACSL1,698,"Long-chain-fatty-acid--CoA ligase 1; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate. Preferentially activates arachidonate than epoxyeicosatrienoic acids (EETs) or hydroxyeicosatrienoic acids (HETEs) (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000422621,USP17L17,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 17; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000422626,LARP7,589,"La-related protein 7; Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation." 9606.ENSP00000422793,INPP4B,938,"Inositol polyphosphate 4-phosphatase type II; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-trisphosphate. Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles. The lipid phosphatase activity is critical for tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival." 9606.ENSP00000422834,FRAS1,4012,Fraser extracellular matrix complex subunit 1. 9606.ENSP00000422887,USP17L30,530,Ubiquitin specific peptidase 17 like family member 30. 9606.ENSP00000422896,SEPTIN11,439,"Septin-11; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy." 9606.ENSP00000422907,GTF2H2C,395,"General transcription factor IIH subunit 2-like protein; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II." 9606.ENSP00000422941,STIMATE-MUSTN1,372,STIMATE-MUSTN1 readthrough. 9606.ENSP00000422947,TRIM34,488,Tripartite motif containing 34. 9606.ENSP00000422969,USP17L29,530,Ubiquitin specific peptidase 17 like family member 29. 9606.ENSP00000423014,OCIAD2,154,OCIA domain containing 2. 9606.ENSP00000423067,WDR36,951,WD repeat-containing protein 36; Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2. 9606.ENSP00000423099,CXorf40A,158,Protein CXorf40A; May have an important role of cell protection in inflammation reaction. 9606.ENSP00000423115,USP17L22,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 22; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000423159,GOLGA8O,632,Golgin A8 family member O; Belongs to the GOLGA6 family. 9606.ENSP00000423190,AADAT,429,"Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial; Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro). Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family." 9606.ENSP00000423211,USP17L27,530,Ubiquitin specific peptidase 17 like family member 27. 9606.ENSP00000423276,ZCCHC10,192,Zinc finger CCHC-type containing 10. 9606.ENSP00000423309,H0Y980_HUMAN,304,Uncharacterized protein. 9606.ENSP00000423313,GALNTL6,601,"Polypeptide N-acetylgalactosaminyltransferase-like 6; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor." 9606.ENSP00000423325,ENSP00000423325,849,Protein kinase domain-containing protein; Belongs to the protein kinase superfamily. Tyr protein kinase family. 9606.ENSP00000423333,USP51,711,Ubiquitin carboxyl-terminal hydrolase 51; Specifically deubiquitinates 'Lys-14' (H2AK13Ub) and 'Lys- 16'(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs). USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. Exhibits also activity for 'Lys-27' or 'Lys-63'-linked di-ubiquitin. 9606.ENSP00000423354,MEGF10,1140,"Multiple epidermal growth factor-like domains protein 10; Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells. Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides. Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum. Plays role in muscle cell proliferation, adhesion and motility. [...] " 9606.ENSP00000423390,USP26,913,Ubiquitin carboxyl-terminal hydrolase 26; Involved in the ubiquitin-dependent proteolytic pathway in conjunction with the 26S proteasome (By similarity). Deubiquitinates the androgen receptor and regulates the androgen receptor signaling pathway; Belongs to the peptidase C19 family. 9606.ENSP00000423391,RFPL4B,263,Ret finger protein like 4B. 9606.ENSP00000423399,MRPL36,103,Mitochondrial ribosomal protein L36; Belongs to the bacterial ribosomal protein bL36 family. 9606.ENSP00000423463,LY75-CD302,1873,LY75-CD302 readthrough. 9606.ENSP00000423503,USP17L18,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 18; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000423505,TTC29,501,Tetratricopeptide repeat domain 29. 9606.ENSP00000423541,SV2C,727,"Synaptic vesicle glycoprotein 2C; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles. (Microbial infection) Possible receptor for C.botulinum neurotoxin type D (BoNT/D, botD); note that type D does not usually infect humans; Belongs to the major facilitator superfamily." 9606.ENSP00000423563,MACROH2A1,372,"Core histone macro-H2A.1; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation [...] " 9606.ENSP00000423567,CCDC153,210,Coiled-coil domain containing 153; Belongs to the UPF0610 family. 9606.ENSP00000423602,DAPP1,280,Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide; May act as a B-cell-associated adapter that regulates B-cell antigen receptor (BCR)-signaling downstream of PI3K. 9606.ENSP00000423630,FBXL7,491,"F-box/LRR-repeat protein 7; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. During mitosis, it mediates the ubiquitination and subsequent proteasomal degradation of AURKA, causing mitotic arrest (By similarity). It also regulates mitochondrial function by mediating the ubiquitination and proteasomal degradation of the apoptosis inhibitor BIRC5." 9606.ENSP00000423660,SH3TC2,1288,SH3 domain and tetratricopeptide repeats 2. 9606.ENSP00000423665,CDK18,504,Cyclin-dependent kinase 18; May play a role in signal transduction cascades in terminally differentiated cells; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. 9606.ENSP00000423673,NDUFA13,144,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in [...] " 9606.ENSP00000423674,GNPDA1,289,Glucosamine-6-phosphate isomerase 1; Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity); Belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 9606.ENSP00000423777,USP17L28,530,Ubiquitin specific peptidase 17 like family member 28. 9606.ENSP00000423820,ZFP62,900,Zinc finger protein 62 homolog; May play a role in differentiating skeletal muscle. 9606.ENSP00000423822,GPX8,209,Glutathione peroxidase 8; Belongs to the glutathione peroxidase family. 9606.ENSP00000423861,HOXC9,260,Homeobox protein Hox-C9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family. 9606.ENSP00000423881,PACRGL,248,PACRG-like protein; Parkin coregulated like. 9606.ENSP00000423897,KLHL5,755,Kelch-like protein 5; Kelch like family member 5. 9606.ENSP00000423917,NPY5R,445,Neuropeptide Y receptor type 5; Receptor for neuropeptide Y and peptide YY. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Seems to be associated with food intake. Could be involved in feeding disorders. 9606.ENSP00000423933,THUMPD2,503,THUMP domain containing 2; Belongs to the methyltransferase superfamily. 9606.ENSP00000424007,SHLD3,250,"Shieldin complex subunit 3; Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres." 9606.ENSP00000424015,FRG2,279,Protein FRG2; FSHD region gene 2. 9606.ENSP00000424040,TAS2R50,299,"Taste receptor type 2 member 50; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000424058,SPDYE2B,402,Speedy protein E2B; speedy/RINGO cell cycle regulator family member E2B. 9606.ENSP00000424077,USP17L23,183,Putative ubiquitin carboxyl-terminal hydrolase 17-like protein 23; Ubiquitin specific peptidase 17 like family member 23. 9606.ENSP00000424123,ELOVL7,281,"Elongation of very long chain fatty acids protein 7; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0 [...] " 9606.ENSP00000424126,MCTP1,999,Multiple C2 and transmembrane domain-containing protein 1; Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity. Belongs to the MCTP family. 9606.ENSP00000424176,EPPIN-WFDC6,179,EPPIN-WFDC6 readthrough. 9606.ENSP00000424183,LAMTOR3,124,"Ragulator complex protein LAMTOR3; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V- ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP k [...] " 9606.ENSP00000424191,SMUG1,270,"Single-strand selective monofunctional uracil DNA glycosylase; Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5- formy [...] " 9606.ENSP00000424198,KLHL2,597,"Kelch-like protein 2; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, leading most often to their proteasomal degradation (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4. Plays a role in the reorganization of the actin cytoskeleton. Promotes growth of cell projections in oligodendrocyte precursors." 9606.ENSP00000424226,TENM3,2699,"Teneurin-3; Involved in neural development by regulating the establishment of proper connectivity within the nervous system. Acts in both pre- and postsynaptic neurons in the hippocampus to control the assembly of a precise topographic projection: required in both CA1 and subicular neurons for the precise targeting of proximal CA1 axons to distal subiculum, probably by promoting homophilic cell adhesion. Required for proper dendrite morphogenesis and axon targeting in the vertebrate visual system, thereby playing a key role in the development of the visual pathway. Regulates the format [...] " 9606.ENSP00000424261,PTTG2,191,Securin-2; Pituitary tumor-transforming 2; Belongs to the securin family. 9606.ENSP00000424328,MRPS30,439,Mitochondrial ribosomal protein S30. 9606.ENSP00000424363,E9PBE3_HUMAN,544,Uncharacterized protein. 9606.ENSP00000424381,LMF2,707,Lipase maturation factor 2; Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity). 9606.ENSP00000424417,PLRG1,514,Pleiotropic regulator 1; Involved in pre-mRNA splicing as component of the spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Belongs to the WD repeat PRL1/PRL2 family. 9606.ENSP00000424474,SAMD14,445,Sterile alpha motif domain containing 14. 9606.ENSP00000424495,ZNF346,319,"Zinc finger protein 346; Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity. May bind to specific miRNA hairpins." 9606.ENSP00000424497,SH3RF2,729,"E3 ubiquitin-protein ligase SH3RF2; Has E3 ubiquitin-protein ligase activity. Acts as an anti-apoptotic regulator of the JNK pathway by ubiquitinating and promoting the degradation of SH3RF1, a scaffold protein that is required for pro-apoptotic JNK activation. Facilitates TNF-alpha-mediated recruitment of adapter proteins TRADD and RIPK1 to TNFRSF1A and regulates PAK4 protein stability via inhibition of its ubiquitin-mediated proteasomal degradation. Inhibits PPP1CA phosphatase activity." 9606.ENSP00000424501,HTN1,57,"His1-(31-57)-peptide; Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities; Belongs to the histatin/statherin family." 9606.ENSP00000424544,TUSC3,348,Tumor suppressor candidate 3; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfide [...] 9606.ENSP00000424565,CDHR2,1310,"Cadherin-related family member 2; Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation. May also play a role in cell-cell adhesion and contact inhibition in epithelial cells." 9606.ENSP00000424566,SLC35A4,324,Probable UDP-sugar transporter protein SLC35A4; Solute carrier family 35 member A4; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. 9606.ENSP00000424571,FBN2,2912,"Fibrillin-2 C-terminal peptide; [Fibrillin-2]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2- containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Belongs to the fibrillin family." 9606.ENSP00000424595,PRPS1L1,318,Ribose-phosphate pyrophosphokinase 3; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. 9606.ENSP00000424598,DEFB4B,64,Defensin beta 4B. 9606.ENSP00000424607,TAAR9,348,"Trace amine-associated receptor 9; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000424630,ADH4,399,"All-trans-retinol dehydrogenase [NAD(+)] ADH4; Catalyzes the NAD-dependent oxidation of either all-trans- retinol or 9-cis-retinol. Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate. Also catalyzes the reduction of benzoquinones." 9606.ENSP00000424655,COPS4,420,"COP9 signalosome complex subunit 4; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. Also involved in the deneddylation of non-cullin subunits such as STON2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1, I [...] " 9606.ENSP00000424707,TMEM167A,72,Protein kish-A; Involved in the early part of the secretory pathway. Belongs to the KISH family. 9606.ENSP00000424708,H0Y9P7_HUMAN,82,Uncharacterized protein. 9606.ENSP00000424711,CLRN2,232,Clarin-2; Clarin 2. 9606.ENSP00000424725,PKD2L2,624,Polycystic kidney disease 2-like 2 protein; May function as a subunit of a cation channel and play a role in fertilization; Belongs to the polycystin family. 9606.ENSP00000424737,ZGRF1,2104,Protein ZGRF1; Zinc finger GRF-type containing 1. 9606.ENSP00000424757,NEK1,1286,"Serine/threonine-protein kinase Nek1; Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Involved in DNA damage checkpoint control and for proper DNA damage repair. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death. May be implicated in the control of meiosis (By similarity). Involved in cilium assembly." 9606.ENSP00000424765,AMOTL2,837,"Angiomotin-like protein 2; Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC; Belongs to the angiomotin family." 9606.ENSP00000424768,MSANTD3-TMEFF1,341,MSANTD3-TMEFF1 readthrough. 9606.ENSP00000424798,MTX3,312,Metaxin-3; Could function in transport of proteins into the mitochondrion; Belongs to the metaxin family. 9606.ENSP00000424827,NEDD4,1319,"E3 ubiquitin-protein ligase NEDD4; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins. Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. [...] " 9606.ENSP00000424838,DDX4,724,"Probable ATP-dependent RNA helicase DDX4; ATP-dependent RNA helicase required during spermatogenesis. Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ ce [...] " 9606.ENSP00000424846,SH3BP2,618,SH3 domain-binding protein 2; Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. 9606.ENSP00000424870,SRP19,144,"Signal recognition particle 19 kDa protein; Signal-recognition-particle assembly, binds directly to 7S RNA and mediates binding of the 54 kDa subunit of the SRP." 9606.ENSP00000424896,CNOT6L,555,"CCR4-NOT transcription complex subunit 6-like; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA- mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in the deadenylation-dependent degradation of mRNAs through the 3 [...] " 9606.ENSP00000425031,HNRNPAB,332,Heterogeneous nuclear ribonucleoprotein A/B; Binds single-stranded RNA. Has a high affinity for G-rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site. 9606.ENSP00000425040,CCSER1,900,Coiled-coil serine rich protein 1. 9606.ENSP00000425048,DTWD2,298,DTW domain containing 2. 9606.ENSP00000425107,ATG12,140,"Ubiquitin-like protein ATG12; Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes." 9606.ENSP00000425130,UVSSA,709,"UV-stimulated scaffold protein A; Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to [...] " 9606.ENSP00000425133,SMG7,1178,"Protein SMG7; Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation." 9606.ENSP00000425166,C1orf216,229,UPF0500 protein C1orf216; Chromosome 1 open reading frame 216. 9606.ENSP00000425261,COX18,334,"Cytochrome c oxidase assembly protein COX18, mitochondrial; Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT- CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT- CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase); Belongs to the OXA1/ALB3/YidC family." 9606.ENSP00000425375,USP17L24,530,Ubiquitin specific peptidase 17 like family member 24. 9606.ENSP00000425394,ABLIM3,683,Actin-binding LIM protein 3; May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity. 9606.ENSP00000425421,SATL1,632,Spermidine/spermine N1-acetyl transferase like 1. 9606.ENSP00000425493,CAGE1,839,Cancer-associated gene 1 protein; Cancer antigen 1. 9606.ENSP00000425497,UGT2A1,693,UDP-glucuronosyltransferase 2A1; UDP glucuronosyltransferase family 2 member A1 complex locus; Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000425556,PALLD,1123,"Palladin; Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have [...] " 9606.ENSP00000425561,EIF4E,248,Eukaryotic translation initiation factor 4E; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates the binding to the mRNA cap. 9606.ENSP00000425582,USP17L19,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 19; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000425587,EXOC3,745,Exocyst complex component 3; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane; Belongs to the SEC6 family. 9606.ENSP00000425631,LIMCH1,1467,LIM and calponin homology domains 1. 9606.ENSP00000425634,HARS1,509,"Histidine--tRNA ligase, cytoplasmic; Catalyzes the ATP-dependent ligation of histidine to the 3'- end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP). Plays a role in axon guidance ; Belongs to the class-II aminoacyl-tRNA synthetase family." 9606.ENSP00000425658,ANKRD50,1429,"Ankyrin repeat domain-containing protein 50; Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1." 9606.ENSP00000425759,COX7C,63,"Cytochrome c oxidase subunit 7C, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...] " 9606.ENSP00000425786,CFAP299,250,Cilia- and flagella-associated protein 299; May be involved in spermatogenesis. 9606.ENSP00000425809,PGM3,570,"Phosphoacetylglucosamine mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O- glycosylation." 9606.ENSP00000425824,CAMK2D,533,"Calcium/calmodulin-dependent protein kinase type II subunit delta; Calcium/calmodulin-dependent protein kinase involved in the regulation of Ca(2+) homeostatis and excitation-contraction coupling (ECC) in heart by targeting ion channels, transporters and accessory proteins involved in Ca(2+) influx into the myocyte, Ca(2+) release from the sarcoplasmic reticulum (SR), SR Ca(2+) uptake and Na(+) and K(+) channel transport. Targets also transcription factors and signaling molecules to regulate heart function. In its activated form, is involved in the pathogenesis of dilated cardiomyopath [...] " 9606.ENSP00000425840,RNF150,438,Ring finger protein 150. 9606.ENSP00000425864,BORCS8,119,"BLOC-1-related complex subunit 8; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor." 9606.ENSP00000425915,SELENOP,381,Selenoprotein P; Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis. 9606.ENSP00000425955,USP17L5,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 5; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000425961,SPINK2,134,Serine peptidase inhibitor Kazal type 2. 9606.ENSP00000425979,DROSHA,1374,"Ribonuclease 3; Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3' and 5' strands of a stem-loop in pri- miRNAs (processing center 11 bp from the dsRNA-ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Invo [...] " 9606.ENSP00000425996,STMP1,47,Short transmembrane mitochondrial protein 1. 9606.ENSP00000426033,HELT,242,Hairy and enhancer of split-related protein HELT; Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGCG-3'; Belongs to the HEY family. 9606.ENSP00000426067,TMEM267,215,Transmembrane protein 267. 9606.ENSP00000426070,TRPC7,862,Short transient receptor potential channel 7; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G- protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion. 9606.ENSP00000426083,ADH1C,375,"Alcohol dehydrogenase 1C, gamma polypeptide." 9606.ENSP00000426103,MIB2,1070,"E3 ubiquitin-protein ligase MIB2; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors." 9606.ENSP00000426119,CRIP2,282,Cysteine rich protein 2. 9606.ENSP00000426120,GRAMD2B,447,GRAM domain containing 2B. 9606.ENSP00000426159,C6orf223,242,Uncharacterized protein C6orf223; Chromosome 6 open reading frame 223. 9606.ENSP00000426167,OSTC,171,"Oligosaccharyltransferase complex subunit OSTC; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). [...] " 9606.ENSP00000426174,CCDC169,241,Coiled-coil domain containing 169. 9606.ENSP00000426191,RAD17,681,"Cell cycle checkpoint protein RAD17; Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. Has a weak ATPase activity required for binding to chromatin. Participates in the recruitment of the RAD1-RAD9-HUS1 complex and RHNO1 onto chromatin, and in CHEK1 activation. May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination. Belongs to the rad17/RAD24 family." 9606.ENSP00000426237,SERINC5,461,"Serine incorporator 5; Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm. Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity)." 9606.ENSP00000426255,SNX25,840,Sorting nexin-25; May be involved in several stages of intracellular trafficking. 9606.ENSP00000426271,ROPN1B,212,"Ropporin-1B; Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation. Belongs to the ropporin family." 9606.ENSP00000426290,MLIP,993,Muscular LMNA interacting protein. 9606.ENSP00000426296,PCP4L1,68,Purkinje cell protein 4 like 1; Belongs to the PCP4 family. 9606.ENSP00000426354,TMEM161B,502,Transmembrane protein 161B; Belongs to the TMEM161 family. 9606.ENSP00000426359,MCIDAS,385,Multicilin; Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway. Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1. Belongs to the geminin family. 9606.ENSP00000426387,ZBTB38,1195,Zinc finger and BTB domain-containing protein 38; Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to E-box elements (5'-CACGTG-3'). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner. Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication. [...] 9606.ENSP00000426421,ASTE1,704,Protein asteroid homolog 1; Possible role in EGF receptor signaling. 9606.ENSP00000426455,RNASET2,256,"Ribonuclease T2; Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism. Belongs to the RNase T2 family." 9606.ENSP00000426503,RNF4,190,"E3 ubiquitin-protein ligase RNF4; E3 ubiquitin-protein ligase which binds polysumoylated chains covalently attached to proteins and mediates 'Lys-6'-, 'Lys-11'-, 'Lys- 48'- and 'Lys-63'-linked polyubiquitination of those substrates and their subsequent targeting to the proteasome for degradation. Regulates the degradation of several proteins including PML and the transcriptional activator PEA3. Involved in chromosome alignment and spindle assembly, it regulates the kinetochore CENPH-CENPI-CENPK complex by targeting polysumoylated CENPI to proteasomal degradation. Regulates the cellular [...] " 9606.ENSP00000426504,ZNF131,623,Zinc finger protein 131; Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling. 9606.ENSP00000426528,AMER2,671,"APC membrane recruitment protein 2; Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex; Belongs to the Amer family." 9606.ENSP00000426548,KCTD16,428,BTB/POZ domain-containing protein KCTD16; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity). 9606.ENSP00000426613,TNIP3,376,"TNFAIP3-interacting protein 3; Binds to zinc finger protein TNFAIP3 and inhibits NF-kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13-acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding." 9606.ENSP00000426632,ERBIN,1419,"Erbin; Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state. Inhibits NOD2-dependent NF-kappa-B signaling and proinflammatory cytokine secretion ; Belongs to the LAP (LRR and PDZ) protein family." 9606.ENSP00000426638,ETFDH,617,"Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; Accepts electrons from ETF and reduces ubiquinone; Belongs to the ETF-QO/FixC family." 9606.ENSP00000426653,WNT8A,369,Protein Wnt-8a; Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning. 9606.ENSP00000426654,ANAPC4,809,"Anaphase-promoting complex subunit 4; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains." 9606.ENSP00000426691,GOLGA8K,630,Golgin A8 family member K; Belongs to the GOLGA8 family. 9606.ENSP00000426741,B4DXG7_HUMAN,233,"cDNA FLJ57652, highly similar to Ephrin-A3; Belongs to the ephrin family." 9606.ENSP00000426786,GUCY1B1,641,Guanylate cyclase soluble subunit beta-1; Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. 9606.ENSP00000426809,PROM1,865,"Prominin-1; May play a role in cell differentiation, proliferation and apoptosis. Binds cholesterol in cholesterol- containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner." 9606.ENSP00000426848,ZFYVE16,1539,Zinc finger FYVE domain-containing protein 16; May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes. 9606.ENSP00000426906,H0YAE9_HUMAN,185,Uncharacterized protein; Belongs to the RNase T2 family. 9606.ENSP00000426909,RACK1,317,"Receptor of activated protein C kinase 1, N-terminally processed; Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal subunit involved in translational repression. Involved in the initiation of the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, by promoting ubiquitination of a subset of 40S ribosomal subunits. Binds to and stabilizes activated protein [...] " 9606.ENSP00000426932,AHRR-2,557,Aryl-hydrocarbon receptor repressor. 9606.ENSP00000426941,MRPS27,428,"28S ribosomal protein S27, mitochondrial; RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis. Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain. Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu). Involved also in positive regulation of cell proliferation and tumor cell growth." 9606.ENSP00000426948,E9PCH4_HUMAN,1651,Uncharacterized protein. 9606.ENSP00000426964,YJEFN3,299,YjeF N-terminal domain-containing protein 3; May play a role in spermiogenesis and oogenesis. 9606.ENSP00000426978,NXF5,365,Nuclear RNA export factor 5; Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons; Belongs to the NXF family. 9606.ENSP00000426983,CLOCK,846,"Circadian locomoter output cycles protein kaput; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, [...] " 9606.ENSP00000427004,GFM2,779,"Ribosome-releasing factor 2, mitochondrial; Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation." 9606.ENSP00000427018,RIMS2,1349,Regulating synaptic membrane exocytosis protein 2; Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes. 9606.ENSP00000427108,CDKN2AIP,580,"CDKN2A-interacting protein; Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence; Belongs to the CARF family." 9606.ENSP00000427123,RAI14,983,"Ankycorbin; Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood- testis barrier." 9606.ENSP00000427130,ANKRD13D,605,Ankyrin repeat domain-containing protein 13D; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. 9606.ENSP00000427177,DLEU7,221,Leukemia-associated protein 7; Deleted in lymphocytic leukemia 7. 9606.ENSP00000427211,APBB2,759,Amyloid-beta A4 precursor protein-binding family B member 2; May modulate the internalization of amyloid-beta precursor protein. 9606.ENSP00000427223,MARCHF1,289,"E3 ubiquitin-protein ligase MARCHF1; E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system." 9606.ENSP00000427264,USP17L20,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 20; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000427279,CXCL2,107,"C-X-C motif chemokine 2; Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic activity." 9606.ENSP00000427329,FOXR2,311,Forkhead box R2. 9606.ENSP00000427336,DIO3,304,"Thyroxine 5-deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into RT3 (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development." 9606.ENSP00000427342,CT45A5,189,Cancer/testis antigen family 45 member A5. 9606.ENSP00000427366,USP17L26,530,Ubiquitin specific peptidase 17 like family member 26. 9606.ENSP00000427401,SREK1IP1,155,Protein SREK1IP1; Possible splicing regulator involved in the control of cellular survival. 9606.ENSP00000427407,SMIM20,67,"Small integral membrane protein 20; [Small integral membrane protein 20]: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover. [Phoenixin-20]: Peptide involved in a broad spectrum of regulatory functions (By similarity). Is a ligand for GPR173 (B [...] " 9606.ENSP00000427421,CDC42SE2,84,"CDC42 small effector protein 2; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T- cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages; Belongs to the CDC42SE/SPEC family." 9606.ENSP00000427424,TNFAIP8,210,"Tumor necrosis factor alpha-induced protein 8; Acts as a negative mediator of apoptosis and may play a role in tumor progression. Suppresses the TNF-mediated apoptosis by inhibiting caspase-8 activity but not the processing of procaspase-8, subsequently resulting in inhibition of BID cleavage and caspase-3 activation." 9606.ENSP00000427428,FAM218A,157,Protein FAM218A; Family with sequence similarity 218 member A. 9606.ENSP00000427463,SPCS3,180,Signal peptidase complex subunit 3; Component of the microsomal signal peptidase complex which removes signal peptides and other N-terminal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum; Belongs to the SPCS3 family. 9606.ENSP00000427514,CEBPA,358,"CCAAT/enhancer-binding protein alpha; Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes. During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity [...] " 9606.ENSP00000427550,CEP192,2537,"Centrosomal protein of 192 kDa; Required for mitotic centrosome maturation and bipolar spindle assembly. Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication. Centrosome- specific activating scaffold for AURKA and PLK1." 9606.ENSP00000427552,DDR1,919,"Epithelial discoidin domain-containing receptor 1; Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required fo [...] " 9606.ENSP00000427555,C4orf54,1793,Uncharacterized protein C4orf54; Chromosome 4 open reading frame 54. 9606.ENSP00000427562,ABL2,1182,"Tyrosine-protein kinase ABL2; Non-receptor tyrosine-protein kinase that plays an ABL1- overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin- bundling ac [...] " 9606.ENSP00000427567,FHDC1,1143,"FH2 domain-containing protein 1; Microtubule-associated formin which regulates both actin and microtubule dynamics. Induces microtubule acetylation and stabilization and actin stress fiber formation. Regulates Golgi ribbon formation. Required for normal cilia assembly. Early in cilia assembly, may assist in the maturation and positioning of the centrosome/basal body, and once cilia assembly has initiated, may also promote cilia elongation by inhibiting disassembly." 9606.ENSP00000427603,GABRA2,511,"Gamma-aminobutyric acid receptor subunit alpha-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (By similarity). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (By similarity). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present [...] " 9606.ENSP00000427661,SLC4A9,983,Anion exchange protein 4; Probable apical anion exchanger of the kidney cortex. Belongs to the anion exchanger (TC 2.A.31) family. 9606.ENSP00000427679,MTTP,921,"Microsomal triglyceride transfer protein large subunit; Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B." 9606.ENSP00000427684,FAM153B,310,Protein FAM153B; Family with sequence similarity 153 member B. 9606.ENSP00000427687,WDR1,606,WD repeat-containing protein 1; Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins. Enhances cofilin- mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions. Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape cha [...] 9606.ENSP00000427690,GYPB,91,Glycophorin-B; This protein is a minor sialoglycoprotein in erythrocyte membranes; Belongs to the glycophorin-A family. 9606.ENSP00000427695,TOB1,345,Protein Tob1; Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Mediates CPEB3-accelerated mRNA deadenylation by binding to CPEB3 and recruiting CNOT7 which leads to target mRNA deadenylation and decay. Belongs to the BTG family. 9606.ENSP00000427772,WWC1,1119,"Protein KIBRA; Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade. Modulates directional migrati [...] " 9606.ENSP00000427793,WWP1,922,"NEDD4-like E3 ubiquitin-protein ligase WWP1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to [...] " 9606.ENSP00000427802,NACA2,215,"Nascent polypeptide-associated complex subunit alpha-2; Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity)." 9606.ENSP00000427820,C8orf34,538,Uncharacterized protein C8orf34; Chromosome 8 open reading frame 34. 9606.ENSP00000427866,DMTN,405,"Dematin; Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator [...] " 9606.ENSP00000427874,TENM2,2535,"Ten-2 intracellular domain; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes the formation of filopodia and enlarged growth cone in neuronal cells. Induces homophilic cell-cell adhesion (By similarity). May function as a cellular signal transducer. [Ten-2 intracellular domain]: Induces gene transcription inhibition." 9606.ENSP00000427882,ANKAR,1434,Ankyrin and armadillo repeat containing. 9606.ENSP00000427888,HS3ST5,346,Heparan sulfate glucosamine 3-O-sulfotransferase 5; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA-GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified hep [...] 9606.ENSP00000427900,KIF13B,1826,Kinesin-like protein KIF13B; Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes. 9606.ENSP00000427926,RHOBTB2,749,Rho-related BTB domain-containing protein 2; Rho related BTB domain containing 2; Belongs to the small GTPase superfamily. Rho family. 9606.ENSP00000427951,CCDC160,325,Coiled-coil domain containing 160; Belongs to the CCDC160 family. 9606.ENSP00000427975,RANBP17,1088,Ran-binding protein 17; May function as a nuclear transport receptor. 9606.ENSP00000427985,DPYSL2,677,"Dihydropyrimidinase-related protein 2; Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis; Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family." 9606.ENSP00000428055,ENSP00000428055,88,Novel protein. 9606.ENSP00000428056,PIK3R1,724,"Phosphatidylinositol 3-kinase regulatory subunit alpha; Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling. Modulates the cellular response to ER stress by promoting nuclear translocation [...] " 9606.ENSP00000428085,RPL30,115,Ribosomal protein L30. 9606.ENSP00000428112,ERLIN2,339,"Erlin-2; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5- trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex." 9606.ENSP00000428137,SLC45A4,808,Solute carrier family 45 member 4; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. 9606.ENSP00000428182,MPP2,597,"MAGUK p55 subfamily member 2; Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2- containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells." 9606.ENSP00000428184,SDCBP,318,"Syntenin-1; Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis. Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1. In concert with SDC1/4 and PDCD6IP, [...] " 9606.ENSP00000428205,FBXO32,355,F-box only protein 32; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1. 9606.ENSP00000428209,UBE2V2,145,Ubiquitin-conjugating enzyme E2 variant 2; Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly- ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. 9606.ENSP00000428220,IRGM,181,Immunity-related GTPase family M protein; Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate proinflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility (By similarity). Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family. 9606.ENSP00000428223,RPL26L1,145,Ribosomal protein L26 like 1; Belongs to the universal ribosomal protein uL24 family. 9606.ENSP00000428259,CETN3,191,Centrin-3; Plays a fundamental role in microtubule-organizing center structure and function. 9606.ENSP00000428263,DGLUCY,621,"D-glutamate cyclase, mitochondrial; D-glutamate cyclase that converts D-glutamate to 5-oxo-D- proline." 9606.ENSP00000428280,FER1L6,1857,Fer-1-like protein 6; Fer-1 like family member 6. 9606.ENSP00000428281,LEPROTL1,169,Leptin receptor overlapping transcript-like 1; Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability. Belongs to the OB-RGRP/VPS55 family. 9606.ENSP00000428288,PCDHGB4,923,Protocadherin gamma-B4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000428316,SERPINE3,424,Serpin E3; Probable serine protease inhibitor. 9606.ENSP00000428324,VASH2,355,"Tubulinyl-Tyr carboxypeptidase 2; Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function. Critical for spindle function and accurate chromosome segregation during mitosis since microtuble detyronisation regulates mitotic spindle length and postioning. Acts as an activator of angiogenesis: expressed in infiltrating mononuclear cells in the sprouting front to promote angiogenesis. Plays a role in axon formation." 9606.ENSP00000428331,SFTA3,94,Surfactant-associated protein 3; Putative surfactant protein. May be involved in wound healing and in the reduction of the surface tension at the ocular surface. 9606.ENSP00000428338,SPSB2,263,SPRY domain-containing SOCS box protein 2; Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2. Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5. 9606.ENSP00000428340,ANGPT1,498,"Angiopoietin-1; Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells [...] " 9606.ENSP00000428343,RGS21,152,Regulator of G-protein signaling 21; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. 9606.ENSP00000428402,CLVS1,354,"Clavesin-1; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5- bisphosphate (PtdIns(3,5)P2)." 9606.ENSP00000428417,RIMS1,1692,Regulating synaptic membrane exocytosis protein 1; Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes. 9606.ENSP00000428426,TCEA1,301,"Transcription elongation factor A protein 1; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus." 9606.ENSP00000428480,DLX6,293,Homeobox protein DLX-6; Distal-less homeobox 6. 9606.ENSP00000428489,PBK,333,"Lymphokine-activated killer T-cell-originated protein kinase; Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin- induced DNA damage; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily." 9606.ENSP00000428518,GFRA2,464,GDNF family receptor alpha-2; Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor; Belongs to the GDNFR family. 9606.ENSP00000428540,ST3GAL1,340,"CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1; Responsible for the synthesis of the sequence NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values; Belongs to the glycosyltransferase 29 family." 9606.ENSP00000428544,TMEM200B,307,Transmembrane protein 200B. 9606.ENSP00000428564,SEC24B,1298,"Protein transport protein Sec24B; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may [...] " 9606.ENSP00000428572,LY6E,131,Lymphocyte antigen 6E; Involved in T-cell development. Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response. 9606.ENSP00000428585,SMIM12,92,Small integral membrane protein 12. 9606.ENSP00000428603,PCDHGB6,930,Protocadherin gamma-B6; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000428612,SLC10A5,438,Sodium/bile acid cotransporter 5; Solute carrier family 10 member 5. 9606.ENSP00000428619,UTP14C,766,U3 small nucleolar RNA-associated protein 14 homolog C; Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity). 9606.ENSP00000428646,FBXO41,875,F-box only protein 41; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000428657,NAIP,1403,"Baculoviral IAP repeat-containing protein 1; Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor- neuron ap [...] " 9606.ENSP00000428679,ZNF829,513,Zinc finger protein 829; May be involved in transcriptional regulation. 9606.ENSP00000428698,RNF217,542,Probable E3 ubiquitin-protein ligase RNF217; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates; Belongs to the RBR family. RNF217 subfamily. 9606.ENSP00000428714,DENND3,1278,"DENN domain-containing protein 3; Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form. Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the deg [...] " 9606.ENSP00000428746,CRYBG2,1985,Beta/gamma crystallin domain-containing protein 2; Crystallin beta-gamma domain containing 2; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000428756,STAU2,570,"Double-stranded RNA-binding protein Staufen homolog 2; RNA-binding protein required for the microtubule-dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body (By similarity)." 9606.ENSP00000428780,CLDN23,292,"Claudin-23; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity." 9606.ENSP00000428787,AP3M2,418,"AP-3 complex subunit mu-2; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Belongs to the adaptor complexes medium subunit family." 9606.ENSP00000428845,VDAC3,284,Voltage-dependent anion-selective channel protein 3; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. 9606.ENSP00000428858,SMIM18,95,Small integral membrane protein 18. 9606.ENSP00000428864,CES5A,604,Carboxylesterase 5A; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. 9606.ENSP00000428876,FAM83A,434,"Protein FAM83A; Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation; Belongs to the FAM83 family." 9606.ENSP00000428878,ZNF721,923,Zinc finger protein 721; May be involved in transcriptional regulation. 9606.ENSP00000428924,LYN,512,"Tyrosine-protein kinase Lyn; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down-regulation and termination. Plays an important role in the regulation of B-c [...] " 9606.ENSP00000428966,ZFP41-2,198,Zinc finger protein 41 homolog; A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000428968,RNF19A,838,"E3 ubiquitin-protein ligase RNF19A; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection. Belongs to the RBR family. RNF19 subfamily." 9606.ENSP00000428976,PTP4A3,173,"Protein tyrosine phosphatase type IVA 3; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization in response to angiotensin II." 9606.ENSP00000428982,CCNC,283,"Cyclin-C; Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Binds to and activates cyclin- dependent kinase CDK8 that phosphoryla [...] " 9606.ENSP00000428994,GRIA1,916,"Glutamate receptor 1; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulati [...] " 9606.ENSP00000429015,ANKRD46,232,Ankyrin repeat domain 46. 9606.ENSP00000429018,PCDHGB2,931,Protocadherin gamma-B2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000429065,INTS9,658,"Integrator complex subunit 9; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex. Belongs to the metallo-beta-lactamase superfamily. RNA- metabolizing metallo-beta-lactamase-like family. INTS9 subfamily." 9606.ENSP00000429073,NKAIN3,197,Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3; Sodium/potassium transporting ATPase interacting 3; Belongs to the NKAIN family. 9606.ENSP00000429084,UBR5,2799,"E3 ubiquitin-protein ligase UBR5; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Pl [...] " 9606.ENSP00000429089,CCNE2,404,G1/S-specific cyclin-E2; Essential for the control of the cell cycle at the late G1 and early S phase; Belongs to the cyclin family. Cyclin E subfamily. 9606.ENSP00000429148,ZNF674,581,Zinc finger protein 674; May be involved in transcriptional regulation. 9606.ENSP00000429150,FAM49B,324,Protein FAM49B. 9606.ENSP00000429168,SLC25A30,291,Kidney mitochondrial carrier protein 1; Probable transporter; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000429190,ENDOV,282,"Endonuclease V; Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine. Has strong preference for single-stranded RNAs (ssRNAs) toward double- stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3'. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved [...] " 9606.ENSP00000429200,SLC25A37,338,"Mitoferrin-1; Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity)." 9606.ENSP00000429216,TRNP1,227,"TMF-regulated nuclear protein 1; DNA-binding factor that regulates the expression of a subset of genes and plays a key role in tangential, radial, and lateral expansion of the brain neocortex. Regulates neural stem cells proliferation and the production of intermediate neural progenitors and basal radial glial cells affecting the process of cerebral cortex gyrification. May control the proliferation rate of cells by regulating their progression through key cell-cycle transition points (By similarity)." 9606.ENSP00000429243,STMN2,187,"Stathmin-2; Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity)." 9606.ENSP00000429273,PCDHGB1,927,Protocadherin gamma-B1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000429275,TMEM125,219,Transmembrane protein 125. 9606.ENSP00000429283,DOCK2,1830,"Dedicator of cytokinesis protein 2; Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2." 9606.ENSP00000429309,TPD52,247,Tumor protein D52; Belongs to the TPD52 family. 9606.ENSP00000429323,EIF2B4,544,Translation initiation factor eIF-2B subunit delta; Catalyzes the exchange of eukaryotic initiation factor 2- bound GDP for GTP. 9606.ENSP00000429344,PNMA2,364,Paraneoplastic antigen Ma2; PNMA family member 2; Belongs to the PNMA family. 9606.ENSP00000429367,FAM92A,289,Protein FAM92A; Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Probable regulator of ciliogenesis involved in limb morphogenesis. In cooperation with CBY1 it is involved in the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis; Belongs to the FAM92 family. 9606.ENSP00000429374,RPS20,142,Ribosomal protein S20. 9606.ENSP00000429473,HS6ST2,645,Heparan-sulfate 6-O-sulfotransferase 2; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. 9606.ENSP00000429517,TRIQK,86,Triple QxxK/R motif-containing protein; May play a role in cell growth and maintenance of cell morphology; Belongs to the TRIQK family. 9606.ENSP00000429553,NKX6-3,135,"Homeobox protein Nkx-6.3; Putative transcription factor, which may be involved in patterning of central nervous system and pancreas." 9606.ENSP00000429562,UNC13A,1703,Protein unc-13 homolog A; Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA- mediated synapses. Facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity). A [...] 9606.ENSP00000429601,PCDHGA6,932,Protocadherin gamma-A6; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000429608,FANCD2OS,177,FANCD2 opposite strand. 9606.ENSP00000429633,MYBL1,752,"Myb-related protein A; Transcription factor that specifically recognizes the sequence 5'-YAAC[GT]G-3'. Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism (By similarity). The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity (By simila [...] " 9606.ENSP00000429690,ATP6V0E1,81,V-type proton ATPase subunit e 1; Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the V-ATPase e1/e2 subunit family. 9606.ENSP00000429707,COX6C,75,"Cytochrome c oxidase subunit 6C; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and [...] " 9606.ENSP00000429726,SHISAL2A,190,Protein shisa-like-2A; Shisa like 2A. 9606.ENSP00000429734,NPIPB13,1138,"Nuclear pore complex interacting protein family, member B13." 9606.ENSP00000429744,STK3,519,"Serine/threonine-protein kinase 3 20kDa subunit; Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regul [...] " 9606.ENSP00000429754,SLC20A2,652,"Sodium-dependent phosphate transporter 2; Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not significantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retrovi [...] " 9606.ENSP00000429763,INSYN2A,479,"Inhibitory synaptic factor 2A; Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code. Belongs to the INSYN2 family." 9606.ENSP00000429803,ZNF260,412,"Zinc finger protein 260; Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling. Binds to PE response elements (PERE) present in the promoter of genes such as ANF/NPPA and acts as a direct transcriptional activator of NPPA. Also acts as a cofactor with GATA4, a key cardiac regulator (By similarity)." 9606.ENSP00000429808,PCDHA3,950,Protocadherin alpha-3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000429824,CLINT1,643,"Clathrin interactor 1; Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly." 9606.ENSP00000429834,PCDHGA5,931,Protocadherin gamma-A5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000429865,TVP23C-CDRT4,164,Golgi apparatus membrane protein TVP23 homolog; TVP23C-CDRT4 readthrough. 9606.ENSP00000429896,FAM178B,679,Protein FAM178B; Family with sequence similarity 178 member B. 9606.ENSP00000429900,ASAP1,1129,"Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1; Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis." 9606.ENSP00000429931,EIF3H,352,"Eukaryotic translation initiation factor 3 subunit H; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000429986,ENY2,101,"Transcription and mRNA export factor ENY2; Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for trans [...] " 9606.ENSP00000429993,TSPAN18,248,Tetraspanin-18; Tetraspanin 18. 9606.ENSP00000430000,ATXN7L3B,97,"Ataxin-7-like protein 3B; By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression level [...] " 9606.ENSP00000430024,PCDHGA7,932,Protocadherin gamma-A7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000430025,LYRM2,88,LYR motif containing 2. 9606.ENSP00000430031,TXNRD3,643,"Thioredoxin reductase 3; Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity)." 9606.ENSP00000430073,CNBD1,436,Cyclic nucleotide-binding domain-containing protein 1; Cyclic nucleotide binding domain containing 1. 9606.ENSP00000430075,AMPD1,780,AMP deaminase 1; AMP deaminase plays a critical role in energy metabolism; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. 9606.ENSP00000430100,GABRP,440,"Gamma-aminobutyric acid receptor subunit pi; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfa [...] " 9606.ENSP00000430110,HMBOX1,443,"Homeobox-containing protein 1; Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA. Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation. Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs). Enhances formation of telomere C-circles i [...] " 9606.ENSP00000430128,RALYL,304,RNA-binding Raly-like protein; RALY RNA binding protein like. 9606.ENSP00000430236,ALG11,492,"GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily." 9606.ENSP00000430237,RNF130,419,E3 ubiquitin-protein ligase RNF130; May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin-protein ligase. 9606.ENSP00000430241,EBF2,575,"Transcription factor COE2; Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5'- ATTCCCNNGGGAATT-3' (By similarity); Belongs to the COE family." 9606.ENSP00000430242,SBSN,590,Suprabasin. 9606.ENSP00000430269,EPHX2,555,"Bifunctional epoxide hydrolase 2; Bifunctional enzyme. The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides. Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady- state levels of physiological mediators. The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10- phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10- phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z- enoic acid and 12-phospho [...] " 9606.ENSP00000430271,ETV3L,361,ETS translocation variant 3-like protein; Transcriptional regulator; Belongs to the ETS family. 9606.ENSP00000430276,MCF2,1001,"MCF2-transforming protein; Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42; Belongs to the MCF2 family." 9606.ENSP00000430282,ATP6V1C1,382,V-type proton ATPase subunit C 1; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000430325,TDRP,198,"Testis development-related protein; Contributes to normal sperm motility, but not essential for male fertility; Belongs to the TDRP family." 9606.ENSP00000430338,INTS8,995,"Integrator complex subunit 8; Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'- box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes." 9606.ENSP00000430344,PLCD1,777,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development." 9606.ENSP00000430432,HDAC2,488,"Histone deacetylase 2; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S- phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed [...] " 9606.ENSP00000430493,CNOT8,292,"CCR4-NOT transcription complex subunit 8; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a [...] " 9606.ENSP00000430494,UQCRB,140,"Cytochrome b-c1 complex subunit 7; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inn [...] " 9606.ENSP00000430548,PTDSS1,473,"Phosphatidylserine synthase 1; Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine." 9606.ENSP00000430598,ATOX1,68,Copper transport protein ATOX1; Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense; Belongs to the ATX1 family. 9606.ENSP00000430620,HEPH,1212,Hephaestin; May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1. 9606.ENSP00000430656,CA1,261,Carbonic anhydrase 1; Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea. 9606.ENSP00000430684,IKBKB,756,"Inhibitor of nuclear factor kappa-B kinase subunit beta; Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated [...] " 9606.ENSP00000430690,TFF3,94,Trefoil factor 3; Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen). 9606.ENSP00000430706,EIF5AL1,154,"Eukaryotic translation initiation factor 5A-1-like; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation [...] " 9606.ENSP00000430711,TRHR,398,Thyrotropin-releasing hormone receptor; Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000430774,E5RI56_HUMAN,91,Skp1_POZ domain-containing protein; Belongs to the SKP1 family. 9606.ENSP00000430818,SMIM23,172,Small integral membrane protein 23. 9606.ENSP00000430823,ZNF706,76,Zinc finger protein 706; Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4. 9606.ENSP00000430846,KCNB2,911,"Potassium voltage-gated channel subfamily B member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric an [...] " 9606.ENSP00000430853,NPIPB11,1161,Nuclear pore complex interacting protein family member B11. 9606.ENSP00000430886,GPBAR1,330,"G-protein coupled bile acid receptor 1; Receptor for bile acid. Bile acid-binding induces its internalization, activation of extracellular signal-regulated kinase and intracellular cAMP production. May be involved in the suppression of macrophage functions by bile acids." 9606.ENSP00000430897,CCDC71L,235,Coiled-coil domain-containing protein 71L; Coiled-coil domain containing 71 like. 9606.ENSP00000430918,C1orf210,113,Type III endosome membrane protein TEMP; May be involved in membrane trafficking between endosomes and plasma membrane. 9606.ENSP00000430919,HMGB4,186,High mobility group box 4; Belongs to the HMGB family. 9606.ENSP00000430945,ADGRB1,1584,"Adhesion G protein-coupled receptor B1; Phosphatidylserine receptor which enhances the engulfment of apoptotic cells. Also mediates the binding and engulfment of Gram-negative bacteria. Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity. In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells. Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G-protein-dependent manner. Inhibits MDM2-mediated ubiquitination and de [...] " 9606.ENSP00000430947,HSF4,492,Heat shock factor protein 4; DNA-binding protein that specifically binds heat shock promoter elements (HSE). Isoform HSF4A represses transcription while the isoform HSF4B activates transcription. Belongs to the HSF family. 9606.ENSP00000430950,IDO1,403,"Indoleamine 2,3-dioxygenase 1; Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway. Involved in the peripheral immune tolerance, contributing to maintain homeostasis by preventing autoimmunity or immunopathology that would result from uncontrolled and overreacting immune responses. Tryptophan shortage inhibits T lymphocytes division and accumulation of tryptophan catabolites induces T-cell apoptosis and differentiation of regulatory T-cells. Acts as a suppressor of anti-tumor immunity. Limits the growth of int [...] " 9606.ENSP00000430955,RNF145,693,"RING finger protein 145; E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. In response to bacterial infection, negatively regulates the phagocyte oxidative burst by controlling the turnover of the NADPH oxidase complex subunits. Promotes monoubiquitination of CYBA and 'Lys-48'- linked polyubiquitination and degradation of CYBB NADPH oxidase catalytic subunits, both essential for the generation of antimicrobial reactive oxygen species. Involved in the maintenance of cholesterol homeostasis. In response to hi [...] " 9606.ENSP00000431010,SDR16C5,318,Epidermal retinol dehydrogenase 2; Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000431012,ARHGEF10,1368,Rho guanine nucleotide exchange factor 10; May play a role in developmental myelination of peripheral nerves. 9606.ENSP00000431040,MRPL22,206,Mitochondrial ribosomal protein L22. 9606.ENSP00000431049,GSTK1,282,"Glutathione S-transferase kappa 1; Significant glutathione conjugating activity is found only with the model substrate, 1-chloro-2,4-dinitrobenzene (CDNB)." 9606.ENSP00000431076,DNPEP,493,Aspartyl aminopeptidase; Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism. 9606.ENSP00000431083,PCDHGA1,931,Protocadherin gamma-A1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000431140,C1QTNF5,243,Complement C1q tumor necrosis factor-related protein 5; C1q and TNF related 5. 9606.ENSP00000431162,EID1,187,EP300-interacting inhibitor of differentiation 1; Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms. 9606.ENSP00000431165,E9PMD0_HUMAN,336,Uncharacterized protein. 9606.ENSP00000431186,BTBD10,483,"BTB/POZ domain-containing protein 10; Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells." 9606.ENSP00000431202,ZNF345,488,Zinc finger protein 345; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000431240,RPLP2,115,60S acidic ribosomal protein P2; Plays an important role in the elongation step of protein synthesis. 9606.ENSP00000431254,IGLL5,214,Immunoglobulin lambda like polypeptide 5. 9606.ENSP00000431265,ZFP82,532,Zinc finger protein 82 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000431284,LPXN,391,"Leupaxin; Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin- induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling." 9606.ENSP00000431287,CSKMT,240,"Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial; Protein-lysine methyltransferase that selectively trimethylates citrate synthase (CS) in mitochondria. Seems to conduct trimethylation in a highly distributive manner rather than in a processive manner, and thus introduces a single methly group per binding event." 9606.ENSP00000431371,E9PLN8_HUMAN,166,VKc domain-containing protein. 9606.ENSP00000431376,TATDN3,281,Putative deoxyribonuclease TATDN3; Putative deoxyribonuclease; Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family. 9606.ENSP00000431391,API5,524,"Apoptosis inhibitor 5; Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs; Belongs to the API5 family." 9606.ENSP00000431418,NTRK1,796,"High affinity nerve growth factor receptor; Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand. Can also bind and be activated by NTF3/neurotrophin- 3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand- binding, undergoes homodimerization, autophosphorylation and activation. R [...] " 9606.ENSP00000431443,KRTAP5-9,169,Keratin associated protein 5-9. 9606.ENSP00000431445,CD3G,182,"T-cell surface glycoprotein CD3 gamma chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR- mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of [...] " 9606.ENSP00000431459,FAM89B,189,Leucine repeat adapter protein 25; Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta. Acts as an adapter that mediates the specific recognition of LIMK1 by CDC42BPA and CDC42BPB in the lamellipodia. LRAP25-mediated CDC42BPA/CDC42BPB targeting to LIMK1 and the lamellipodium results in LIMK1 activation and the subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation; Belongs to the FAM89 family. 9606.ENSP00000431482,NEDD8-MDP1,170,NEDD8-MDP1 readthrough. 9606.ENSP00000431512,HSF1,529,"Heat shock factor protein 1; Functions as a stress-inducible and DNA-binding transcription factor that plays a central role in the transcriptional activation of the heat shock response (HSR), leading to the expression of a large class of molecular chaperones heat shock proteins (HSPs) that protect cells from cellular insults' damage. In unstressed cells, is present in a HSP90-containing multichaperone complex that maintains it in a non-DNA-binding inactivated monomeric form. Upon exposure to heat and other stress stimuli, undergoes homotrimerization and activates HSP gene transcription [...] " 9606.ENSP00000431536,H0YCG3_HUMAN,227,Uncharacterized protein. 9606.ENSP00000431548,TMEM25,381,"Transmembrane protein 25; In neurons, modulates the degradation of NMDA receptor GRIN2B subunit. Plays a role in the regulation of neuronal excitability." 9606.ENSP00000431603,POU2F2,479,"POU domain, class 2, transcription factor 2; Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates transcription transactivation by NR3C1, AR and PGR. Isoform 5 activates the U2 small nuclear RNA (snRNA) promoter. Belongs to the POU transcription factor family. Class-2 subfamily." 9606.ENSP00000431607,MS4A18,400,Membrane spanning 4-domains A18. 9606.ENSP00000431719,TAS2R43,309,"Taste receptor type 2 member 43; Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity)." 9606.ENSP00000431748,PCDHA2,948,Protocadherin alpha-2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000431759,CFAP54,3096,Cilia- and flagella-associated protein 54; Required for assembly and function of cilia and flagella. 9606.ENSP00000431775,IL32,234,Interleukin-32; Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF-alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK. 9606.ENSP00000431800,EIF3F,357,"Eukaryotic translation initiation factor 3 subunit F; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000431813,CSRP3,194,"Cysteine and glycine-rich protein 3; Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-li [...] " 9606.ENSP00000431814,NPIPA7,369,Nuclear pore complex interacting protein family member A7. 9606.ENSP00000431822,FAU,133,Ubiquitin-like protein FUBI; FAU ubiquitin like and ribosomal protein S30 fusion. 9606.ENSP00000431840,SLC24A4,622,Sodium/potassium/calcium exchanger 4; Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity). Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily. 9606.ENSP00000431871,NPIPB6,425,Nuclear pore complex interacting protein family member B6; Belongs to the NPIP family. 9606.ENSP00000431876,USP35,1018,Ubiquitin specific peptidase 35. 9606.ENSP00000431885,TYK2,1187,Non-receptor tyrosine-protein kinase TYK2; Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain. 9606.ENSP00000431914,OR10S1,331,Olfactory receptor 10S1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000431926,AMBRA1,1238,"Activating molecule in BECN1-regulated autophagy protein 1; Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity)." 9606.ENSP00000431971,SAMD1,432,Atherin; May play a role in atherogenesis by immobilizing LDL in the atherial wall. 9606.ENSP00000431983,MUC15,361,Mucin-15; May play a role in the cell adhesion to the extracellular matrix. 9606.ENSP00000431984,CAPN1,714,Calpain-1 catalytic subunit; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; Belongs to the peptidase C2 family. 9606.ENSP00000432011,OR52B2,323,Olfactory receptor 52B2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000432016,H7C0V5_HUMAN,2617,ANKHD1-EIF4EBP3 readthrough. 9606.ENSP00000432104,EBLN2,272,Endogenous Bornavirus-like nucleoprotein 2; May act as an RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human. 9606.ENSP00000432119,WDR74,385,"WD repeat-containing protein 74; Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit. Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL. Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity)." 9606.ENSP00000432163,KBTBD3,612,Kelch repeat and BTB domain containing 3. 9606.ENSP00000432172,CCDC17,622,Coiled-coil domain containing 17. 9606.ENSP00000432279,CHMP1B,199,"Charged multivesicular body protein 1b; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the [...] " 9606.ENSP00000432305,SPA17,151,Sperm surface protein Sp17; Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity). 9606.ENSP00000432353,PBOV1,135,Prostate and breast cancer overexpressed 1. 9606.ENSP00000432412,ATG13,550,"Autophagy-related protein 13; Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation." 9606.ENSP00000432417,OR5M11,305,Olfactory receptor 5M11; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000432456,GPR61,451,G-protein coupled receptor 61; Orphan G-protein coupled receptor. Constitutively activates the G(s)-alpha/cAMP signaling pathway. Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization. May be involved in the regulation of food intake and body weight (By similarity). 9606.ENSP00000432459,TMEM262,116,Transmembrane protein 262. 9606.ENSP00000432472,BRK1,75,"Protein BRICK1; Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity)." 9606.ENSP00000432481,NAALAD2,740,N-acetylated-alpha-linked acidic dipeptidase 2; Has N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Also exhibits a dipeptidyl-peptidase IV type activity. Inactivates the peptide neurotransmitter N-acetylaspartylglutamate. 9606.ENSP00000432487,SAAL1,474,Protein SAAL1; Plays a role in promoting the proliferation of synovial fibroblasts in response to proinflammatory stimuli. 9606.ENSP00000432504,ZNF202,648,"Zinc finger protein 202; Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism. Among its targets are structural components of lipoprotein particles (apolipoproteins AIV, CIII, and E), enzymes involved in lipid processing (lipoprotein lipase, lecithin cholesteryl ester transferase), transporters involved in lipid homeostasis (ABCA1, ABCG1), and several genes involved in processes related to energy metabolism and vascular disease." 9606.ENSP00000432511,JAK3,1124,"Tyrosine-protein kinase JAK3; Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails o [...] " 9606.ENSP00000432523,C11orf98,123,Uncharacterized protein C11orf98; Chromosome 11 open reading frame 98. 9606.ENSP00000432561,HTN3,51,"His3-(20-30)-peptide; Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. His3-(20-43)-peptide (histatin-5) is especially effective against C.albicans and C.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB) from P.gingivalis. In addition, His3-(20-43)-peptide is a potent inhibitor of metalloproteinases MMP2 and MMP9." 9606.ENSP00000432568,SPTBN2,2390,"Spectrin beta chain, non-erythrocytic 2; Probably plays an important role in neuronal membrane skeleton; Belongs to the spectrin family." 9606.ENSP00000432586,FAT3,4439,Protocadherin Fat 3; May play a role in the interactions between neurites derived from specific subsets of neurons during development. 9606.ENSP00000432648,YPEL4,127,Protein yippee-like 4; Yippee like 4; Belongs to the yippee family. 9606.ENSP00000432651,SMTNL1,494,"Smoothelin-like protein 1; Plays a role in the regulation of contractile properties of both striated and smooth muscles. When unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory activity (By similarity)." 9606.ENSP00000432660,CFL1,166,"Cofilin-1; Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. Required for neural tube morphogenesis and neural crest cell migration (By similarity)." 9606.ENSP00000432688,PIGY,71,"Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y; Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA." 9606.ENSP00000432692,UQCC3,93,"Ubiquinol-cytochrome-c reductase complex assembly factor 3; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology." 9606.ENSP00000432695,TRMT9B,454,Probable tRNA methyltransferase 9B; May modifie wobble uridines in specific arginine and glutamic acid tRNAs. Acts as a tumor suppressor by promoting the expression of LIN9. 9606.ENSP00000432743,TP53AIP1,124,P53-regulated apoptosis-inducing protein 1; May play an important role in mediating p53/TP53-dependent apoptosis. 9606.ENSP00000432768,CKAP5,2032,Cytoskeleton-associated protein 5; Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stab [...] 9606.ENSP00000432770,EYA4,645,"Eyes absent homolog 4; Tyrosine phosphatase that specifically dephosphorylates 'Tyr- 142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity); B [...] " 9606.ENSP00000432786,KDM2A,1162,"Lysine-specific demethylase 2A; Histone demethylase that specifically demethylates 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the c [...] " 9606.ENSP00000432816,ACRV1,265,Acrosomal vesicle protein 1. 9606.ENSP00000432845,MEX3A,520,"RNA-binding protein MEX3A; RNA binding protein, may be involved in post-transcriptional regulatory mechanisms." 9606.ENSP00000432886,RNPC3,517,"RNA-binding region-containing protein 3; Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'- stem-loop of m(7)G-capped U12 snRNA." 9606.ENSP00000432973,PTPRK,1462,"Receptor-type tyrosine-protein phosphatase kappa; Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa." 9606.ENSP00000433001,RGS5,185,"Regulator of G-protein signaling 5; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity)." 9606.ENSP00000433071,RBM4B,359,RNA-binding protein 4B; Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3'-UTR of the PER1 mRNA (By similarity). 9606.ENSP00000433102,TRIM3,744,Tripartite motif-containing protein 3; Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Positively regulates motility of microtubule-dependent motor protein KIF21B (By similarity). 9606.ENSP00000433112,DKK3,364,"Dickkopf-related protein 3; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity); Belongs to the dickkopf family." 9606.ENSP00000433126,TMEM41B,291,Transmembrane protein 41B; Required for normal motor neuron development (By similarity). Required for autophagosome formation. Belongs to the TMEM41 family. 9606.ENSP00000433138,CASP1,404,"Caspase-1 subunit p10; Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive. In apoptotic cells, cleaves SPHK2 which is released from cells and remains enzymatically active extracell [...] " 9606.ENSP00000433157,BBIP1,103,BBSome interacting protein 1. 9606.ENSP00000433205,EMSY,1337,"BRCA2-interacting transcriptional repressor EMSY; Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand- dependent transcriptional activation by nuclear hormone receptors." 9606.ENSP00000433208,PTH,115,Parathyroid hormone; PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D- glucose (2DG) transport and glycogen synthesis in osteoblastic cells. 9606.ENSP00000433209,GSDMD,484,"Gasdermin-D, C-terminal; [Gasdermin-D, N-terminal]: Promotes pyroptosis in response to microbial infection and danger signals. Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1 or CASP4 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well [...] " 9606.ENSP00000433277,MS4A1,297,"B-lymphocyte antigen CD20; B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes. Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR." 9606.ENSP00000433295,KCNJ5,419,"G protein-activated inward rectifier potassium channel 4; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. Belongs to the [...] " 9606.ENSP00000433343,FAM118B,351,Protein FAM118B; May play a role in Cajal bodies formation. Belongs to the FAM118 family. 9606.ENSP00000433361,TMEM9B,198,"Transmembrane protein 9B; Enhances production of proinflammatory cytokines induced by TNF, IL1B, and TLR ligands. Has a role in TNF activation of both the NF-kappaB and MAPK pathways; Belongs to the TMEM9 family." 9606.ENSP00000433378,PCDHA6,950,Protocadherin alpha-6; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000433415,NT5C1B-RDH14,602,NT5C1B-RDH14 readthrough. 9606.ENSP00000433427,ARL15,204,ADP-ribosylation factor-like protein 15; ADP ribosylation factor like GTPase 15; Belongs to the small GTPase superfamily. Arf family. 9606.ENSP00000433459,CREBZF,354,CREB/ATF bZIP transcription factor; Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1-dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells; Belongs to the bZIP family. ATF subfamily. 9606.ENSP00000433488,FLI1,452,Friend leukemia integration 1 transcription factor; Sequence-specific transcriptional activator. Recognizes the DNA sequence 5'- C[CA]GGAAGT-3'; Belongs to the ETS family. 9606.ENSP00000433490,CALCB,127,"Calcitonin gene-related peptide 2; CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role; Belongs to the calcitonin family." 9606.ENSP00000433528,DENND2B,1137,DENN domain-containing protein 2B; [Isoform 1]: May be involved in cytoskeletal organization and tumorogenicity. Seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Plays a role in EGFR trafficking from recycling endosomes back to the cell membrane. [Isoform 3]: May block ERK2 activation stimulated by ABL1 (Probable). May alter cell morphology and cell growth (Probable). 9606.ENSP00000433560,CRYAB,175,"Alpha-crystallin B chain; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions." 9606.ENSP00000433597,NPIPA5,350,Nuclear pore complex interacting protein family member A5. 9606.ENSP00000433623,TRAF6,522,"TNF receptor-associated factor 6; E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as IKBKG, IRAK1, AKT1 and AKT2. Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation. Leads to the activation of NF-kappa-B and JUN. May be essential for the formation of functional osteoclasts. Seems to also play a role in dendritic cells (DCs) maturation and/or activation. Represses c-Myb-mediated transactivation, in B-lymphocytes. Adapter protein that seem [...] " 9606.ENSP00000433642,FCGR3B,269,"Low affinity immunoglobulin gamma Fc region receptor III-B; Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils." 9606.ENSP00000433646,C10orf113,155,Putative uncharacterized protein C10orf113. 9606.ENSP00000433664,EIF4G2,907,"Eukaryotic translation initiation factor 4 gamma 2; Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases." 9606.ENSP00000433666,FGD4,878,"FYVE, RhoGEF and PH domain-containing protein 4; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity)." 9606.ENSP00000433681,NCAPD3,1498,"Condensin-2 complex subunit D3; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis. May promote the resolution of double-strand DNA catenanes (intertwines) between sister chromatids. Condensin-mediated compaction likely increases tension in catenated sister chromatids, providing directionality for type II topoisomerase-mediated strand exchanges toward chromatid decatenation. Specifically required for decatenation of centromeric ultrafine DNA bridges during anaphase. Early [...] " 9606.ENSP00000433712,SPRN,151,Shadow of prion protein; Prion-like protein that has PrP(C)-like neuroprotective activity. May act as a modulator for the biological actions of normal and abnormal PrP (By similarity). 9606.ENSP00000433760,BANF1,89,"Barrier-to-autointegration factor, N-terminally processed; Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non- specific dsDNA-binding sites which may promote DNA cross-bridging. (Microbial infection) In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication." 9606.ENSP00000433761,MS4A14,712,Membrane-spanning 4-domains subfamily A member 14; May be involved in signal transduction as a component of a multimeric receptor complex. 9606.ENSP00000433769,CYHR1,404,Cysteine and histidine rich 1; Belongs to the CYHR1 family. 9606.ENSP00000433773,ZNF585B,769,Zinc finger protein 585B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000433816,TSPAN19,248,Putative tetraspanin-19; Tetraspanin 19. 9606.ENSP00000433847,B3GAT1,334,"Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo- fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl- sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regar [...] " 9606.ENSP00000433919,CLNS1A,237,"Methylosome subunit pICln; Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins. Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm prot [...] " 9606.ENSP00000433933,PNLIPRP1,467,"Inactive pancreatic lipase-related protein 1; May function as inhibitor of dietary triglyceride digestion. Lacks detectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (in vitro) (By similarity); Belongs to the AB hydrolase superfamily. Lipase family." 9606.ENSP00000433967,E9PSI1_HUMAN,815,Transmembrane 9 superfamily member; Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family. 9606.ENSP00000433999,RNH1,461,"Ribonuclease inhibitor; Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and ANG. May play a role in redox homeostasis." 9606.ENSP00000434024,H2AX,143,"Histone H2AX; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post- translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low dos [...] " 9606.ENSP00000434034,FZD4,537,"Frizzled-4; Receptor for Wnt proteins. Most frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP) (By similarity). In retina, it can be activated by Wnt protein-binding and also by Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accu [...] " 9606.ENSP00000434056,EIF1AD,165,Probable RNA-binding protein EIF1AD; Plays a role into cellular response to oxidative stress. Decreases cell proliferation. 9606.ENSP00000434103,RAB15,212,Ras-related protein Rab-15; May act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal. Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000434241,KCNC3,757,"Potassium voltage-gated channel subfamily C member 3; Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics. It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar [...] " 9606.ENSP00000434279,TMPRSS13,567,Transmembrane serine protease 13; Belongs to the peptidase S1 family. 9606.ENSP00000434343,CYB5RL,315,"NADH-cytochrome b5 reductase-like; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family." 9606.ENSP00000434359,PUF60,559,"Poly(U)-binding-splicing factor PUF60; DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group [...] " 9606.ENSP00000434364,SLC6A5,797,Sodium- and chloride-dependent glycine transporter 2; Sodium- and chloride-dependent glycine transporter. Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine- sensitive glycinergic synapses. 9606.ENSP00000434399,NPIPB8,432,Nuclear pore complex interacting protein family member B8; Belongs to the NPIP family. 9606.ENSP00000434412,SERPINH1,418,Serpin H1; Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. 9606.ENSP00000434435,FAM111A,611,"Protein FAM111A; Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis. May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction." 9606.ENSP00000434442,ARFGAP2,521,ADP-ribosylation factor GTPase-activating protein 2; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. 9606.ENSP00000434466,INTS4,963,"Integrator complex subunit 4; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex." 9606.ENSP00000434480,ACER3,267,"Alkaline ceramidase 3; Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4- ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1- phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1- [...] " 9606.ENSP00000434508,TRC2L_HUMAN,207,Putative short transient receptor potential channel 2-like protein; Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. 9606.ENSP00000434511,SELENOH,122,Selenoprotein H; May be involved in a redox-related process. 9606.ENSP00000434513,EML3,917,"Echinoderm microtubule-associated protein-like 3; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic; Belongs to the WD repeat EMAP family." 9606.ENSP00000434515,SLC43A3,504,Solute carrier family 43 member 3; Putative transporter; Belongs to the SLC43A transporter (TC 2.A.1.44) family. 9606.ENSP00000434516,TXNRD1,649,"Thioredoxin reductase 1, cytoplasmic; Isoform 1 may possess glutaredoxin activity as well as thioredoxin reductase activity and induces actin and tubulin polymerization, leading to formation of cell membrane protrusions. Isoform 4 enhances the transcriptional activity of estrogen receptors alpha and beta while isoform 5 enhances the transcriptional activity of the beta receptor only. Isoform 5 also mediates cell death induced by a combination of interferon-beta and retinoic acid." 9606.ENSP00000434552,MAML2,1156,Mastermind-like protein 2; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. Belongs to the mastermind family. 9606.ENSP00000434570,SOGA3,947,Protein SOGA3; SOGA family member 3. 9606.ENSP00000434602,C6orf141,244,Uncharacterized protein C6orf141; Chromosome 6 open reading frame 141. 9606.ENSP00000434614,CDC27,830,"Cell division cycle protein 27 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC3/CDC27 family." 9606.ENSP00000434655,PCDHA8,950,Protocadherin alpha-8; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000434676,USP50,334,Inactive ubiquitin carboxyl-terminal hydrolase 50; Has no peptidase activity; Belongs to the peptidase C19 family. 9606.ENSP00000434717,IL18BP,199,Interleukin-18-binding protein; Isoform A binds to IL-18 and inhibits its activity. Functions as an inhibitor of the early TH1 cytokine response. 9606.ENSP00000434724,CCDC90B,254,"Coiled-coil domain-containing protein 90B, mitochondrial; Coiled-coil domain containing 90B." 9606.ENSP00000434729,ATP6V0B,261,V-type proton ATPase 21 kDa proteolipid subunit; Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. 9606.ENSP00000434776,PARP10,1037,"Protein mono-ADP-ribosyltransferase PARP10; ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate and aspartate residues on target proteins. In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation. Catalyzes mono-ADP-ribosylation of GSK3B, leading to negatively regulate GSK3B kinase activity. Involved in translesion DNA synthesis in response to DNA damage via its interaction with PCNA." 9606.ENSP00000434830,NRK,1582,"Nik-related protein kinase; May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily." 9606.ENSP00000434847,TSKU,353,"Tsukushin; Tsukushi, small leucine rich proteoglycan." 9606.ENSP00000434849,LRRC24,513,Leucine-rich repeat-containing protein 24; Leucine rich repeat containing 24. 9606.ENSP00000434887,THNSL1,743,Threonine synthase like 1. 9606.ENSP00000434995,CLP1,425,"Polyribonucleotide 5'-hydroxyl-kinase Clp1; Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; this pho [...] " 9606.ENSP00000435010,DEFB134,66,Beta-defensin 134; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000435096,RPS25,125,Ribosomal protein S25. 9606.ENSP00000435150,KIAA0408,694,Uncharacterized protein KIAA0408; KIAA0408. 9606.ENSP00000435188,E9PLD3_HUMAN,99,Uncharacterized protein. 9606.ENSP00000435189,RAB30,203,"Ras-related protein Rab-30; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins." 9606.ENSP00000435210,BCLAF1,920,Bcl-2-associated transcription factor 1; Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. 9606.ENSP00000435233,TEAD1,426,"Transcriptional enhancer factor TEF-1; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] " 9606.ENSP00000435234,ZSCAN5C,496,Zinc finger and SCAN domain-containing protein 5C; May be involved in transcriptional regulation. 9606.ENSP00000435289,PAFAH1B2,229,Platelet-activating factor acetylhydrolase IB subunit beta; Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit. 9606.ENSP00000435299,CRACR2B,399,EF-hand calcium-binding domain-containing protein 4A; Plays a role in store-operated Ca(2+) entry (SOCE). 9606.ENSP00000435300,PCDHA4,947,"Protocadherin alpha-4; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain." 9606.ENSP00000435325,NPIPA8,369,Nuclear pore complex interacting protein family member A8. 9606.ENSP00000435355,GJB7,223,"Gap junction beta-7 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Beta-type (group I) subfamily." 9606.ENSP00000435365,TOR1AIP1,584,Torsin-1A-interacting protein 1; Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina. 9606.ENSP00000435373,CCNJ,383,Cyclin-J; Cyclin J. 9606.ENSP00000435380,SLN,31,"Sarcolipin; Reversibly inhibits the activity of ATP2A1 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in muscle. Required for muscle- based, non-shivering thermogenesis (By similarity). Belongs to the sarcolipin family." 9606.ENSP00000435389,PLEKHA7,1271,"Pleckstrin homology domain-containing family A member 7; Required for zonula adherens biogenesis and maintenance. Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site. Mediates docking of ADAM10 to zonula adherens through a PDZD11- dependent interaction with the ADAM10-binding protein TSPAN33." 9606.ENSP00000435412,RPS6KA1,744,"Ribosomal protein S6 kinase alpha-1; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro- apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1, which results in the subsequent transcriptional activa [...] " 9606.ENSP00000435421,DDIAS,998,DNA damage-induced apoptosis suppressor protein; May be an anti-apoptotic protein involved in DNA repair or cell survival. 9606.ENSP00000435460,LGALS8,359,Galectin-8; Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy. Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of the endosome membrane; these ligands becoming exposed to the cytoplasm following rupture. Restricts infection by initiating autophagy via interaction with CALCOCO2/NDP52. Required to restrict infection of bacterial invasion such as S.typhimurium. Also required to restrict infection of Picornaviridae viruse [...] 9606.ENSP00000435466,KIRREL3,778,"Processed kin of IRRE-like protein 3; Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopo [...] " 9606.ENSP00000435506,POLN,900,"DNA polymerase nu; DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template. Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity. Error-prone DNA polymerase that preferentially misincorporates dT regardless of templ [...] " 9606.ENSP00000435509,ZIC4,384,Zinc finger protein ZIC 4; Binds to DNA; Belongs to the GLI C2H2-type zinc-finger protein family. 9606.ENSP00000435534,CCKBR,516,"Gastrin/cholecystokinin type B receptor; Receptor for gastrin and cholecystokinin. The CCK-B receptors occur throughout the central nervous system where they modulate anxiety, analgesia, arousal, and neuroleptic activity. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000435550,ZC2HC1C,456,Zinc finger C2HC-type containing 1C; Belongs to the ZC2HC1 family. 9606.ENSP00000435565,MROH1,1641,Maestro heat like repeat family member 1. 9606.ENSP00000435582,AGBL2,902,Cytosolic carboxypeptidase 2; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin. 9606.ENSP00000435585,EPS8L2,715,"Epidermal growth factor receptor kinase substrate 8-like protein 2; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity); Belongs to the EPS8 family." 9606.ENSP00000435619,EID3,333,"EP300-interacting inhibitor of differentiation 3; Tissue-specific component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double- strand breaks. The complex is required for telomere maintenance via recombination and mediates sumoylation of shelterin complex (telosome) components; Belongs to the NSE4 family." 9606.ENSP00000435634,C1orf94,598,Uncharacterized protein C1orf94; Chromosome 1 open reading frame 94. 9606.ENSP00000435637,CNTN5,1100,Contactin-5; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity). 9606.ENSP00000435648,GRIK4,956,"Glutamate receptor ionotropic, kainate 4; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists." 9606.ENSP00000435712,GATA4,443,"Transcription factor GATA-4; Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function. In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in coope [...] " 9606.ENSP00000435770,ASCL3,181,Achaete-scute homolog 3; Transcriptional repressor. Inhibits myogenesis (By similarity). 9606.ENSP00000435777,RPS13,151,Ribosomal protein S13. 9606.ENSP00000435790,ANKRD42,527,Ankyrin repeat domain 42. 9606.ENSP00000435835,EHF,322,ETS homologous factor; Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti [...] 9606.ENSP00000435844,MS4A6A,276,Membrane-spanning 4-domains subfamily A member 6A; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family. 9606.ENSP00000435954,KCNV1,500,"Potassium voltage-gated channel subfamily V member 1; Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes." 9606.ENSP00000436004,OR5M10,315,Olfactory receptor 5M10; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000436005,TRAPPC4,219,Trafficking protein particle complex subunit 4; May play a role in vesicular transport from endoplasmic reticulum to Golgi. 9606.ENSP00000436042,PCDHA9,950,Protocadherin alpha-9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000436047,ST3GAL4,333,"CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4; Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4- GlcNAc-, and NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant. Belongs to the glycosyltransferase 29 family." 9606.ENSP00000436049,EIF3M,374,"Eukaryotic translation initiation factor 3 subunit M; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000436126,SAA2,122,Serum amyloid A-2 protein; Major acute phase reactant. Apolipoprotein of the HDL complex; Belongs to the SAA family. 9606.ENSP00000436152,TP53I11,189,Tumor protein p53 inducible protein 11. 9606.ENSP00000436212,ZNF707,371,Zinc finger protein 707; May be involved in transcriptional regulation. 9606.ENSP00000436318,CCS,274,Copper chaperone for superoxide dismutase; Delivers copper to copper zinc superoxide dismutase (SOD1); In the C-terminal section; belongs to the Cu-Zn superoxide dismutase family. 9606.ENSP00000436376,OMP,163,Olfactory marker protein; May act as a modulator of the olfactory signal-transduction cascade; Belongs to the olfactory marker protein family. 9606.ENSP00000436422,ENSP00000436422,280,Novel protein. 9606.ENSP00000436423,GNLY,172,"Granulysin; Antimicrobial protein that kills intracellular pathogens. Active against a broad range of microbes, including Gram-positive and Gram-negative bacteria, fungi, and parasites. Kills Mycobacterium tuberculosis." 9606.ENSP00000436424,OR4D10,311,Olfactory receptor 4D10; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000436426,PCDHA7,937,"Protocadherin alpha-7; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain." 9606.ENSP00000436450,TAS2R46,309,"Taste receptor type 2 member 46; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000436453,OR52I1,324,Olfactory receptor 52I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000436455,NUCB2,420,Nucleobindin-2; Calcium-binding protein which may have a role in calcium homeostasis (By similarity). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein (G-protein) alpha subunit GNAI3 (By similarity). 9606.ENSP00000436552,IGSF9B,1437,"Protein turtle homolog B; Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion." 9606.ENSP00000436557,PCDHA5,936,Protocadherin alpha-5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000436580,PRR23D2,279,Proline-rich protein 23D1; Proline rich 23 domain containing 2; Belongs to the PRR23 family. 9606.ENSP00000436585,ECHDC1,307,"Ethylmalonyl-CoA decarboxylase; Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity)." 9606.ENSP00000436596,TMEM218,115,Transmembrane protein 218; May be involved in ciliary biogenesis or function. 9606.ENSP00000436604,GALNT4,578,"Polypeptide N-acetylgalactosaminyltransferase 4; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates 'Thr-57' of SELPLG; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily." 9606.ENSP00000436607,ADM,185,"Proadrenomedullin N-20 terminal peptide; AM and PAMP are potent hypotensive and vasodilatator agents. Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, am is diuretic and natriuretic, and both am and pamp inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in b [...] " 9606.ENSP00000436621,C8orf82,216,UPF0598 protein C8orf82; Chromosome 8 open reading frame 82. 9606.ENSP00000436649,SAC3D1,358,SAC3 domain-containing protein 1; Involved in centrosome duplication and mitotic progression. 9606.ENSP00000436679,NXF1,619,Nuclear RNA export factor 1; Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex. ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export. Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SR [...] 9606.ENSP00000436682,ARMS2,107,Age-related maculopathy susceptibility 2. 9606.ENSP00000436691,CARD18,90,Caspase recruitment domain-containing protein 18; Inhibits generation of IL-1-beta by interacting with caspase- 1 and preventing its association with RIP2. Down-regulates the release of IL1B. 9606.ENSP00000436713,KBTBD4,543,Kelch repeat and BTB domain containing 4. 9606.ENSP00000436714,HCAR3,387,Hydroxycarboxylic acid receptor 3; Receptor for 3-OH-octanoid acid mediates a negative feedback regulation of adipocyte lipolysis to counteract prolipolytic influences under conditions of physiological or pathological increases in beta- oxidation rates. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. 9606.ENSP00000436773,KIAA0100,2235,Protein KIAA0100; May be involved in membrane trafficking. Belongs to the SABRE family. 9606.ENSP00000436785,SLC35F2,374,Solute carrier family 35 member F2; Putative solute transporter. 9606.ENSP00000436786,KMT2A,3972,"Histone-lysine N-methyltransferase 2A; Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys- 4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no [...] " 9606.ENSP00000436812,MUC5B,5762,Mucin-5B; Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus. 9606.ENSP00000436836,CACNG5,275,"Voltage-dependent calcium channel gamma-5 subunit; Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity)." 9606.ENSP00000436848,LBHD1,263,LBH domain containing 1. 9606.ENSP00000436864,CELF1,514,"CUGBP Elav-like family member 1; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon bu [...] " 9606.ENSP00000436881,DBX1,343,"Homeobox protein DBX1; Could have a role in patterning the central nervous system during embryogenesis. Has a key role in regulating the distinct phenotypic features that distinguish two major classes of ventral interneurons, V0 and V1 neurons. Regulates the transcription factor profile, neurotransmitter phenotype, intraspinal migratory path and axonal trajectory of V0 neurons, features that differentiate them from an adjacent set of V1 neurons (By similarity); Belongs to the H2.0 homeobox family." 9606.ENSP00000436891,PRR23D1,279,Proline rich 23 domain containing 1. 9606.ENSP00000436897,SMIM3,60,Small integral membrane protein 3. 9606.ENSP00000436926,NFRKB,1324,Nuclear factor related to kappa-B-binding protein; Binds to the DNA consensus sequence 5'-GGGGAATCTCC-3'. Belongs to the NFRKB family. 9606.ENSP00000436975,DNAAF3,608,"Dynein assembly factor 3, axonemal; Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia." 9606.ENSP00000437041,CYB5R2,276,"NADH-cytochrome b5 reductase 2; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4- nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST- 1); Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family." 9606.ENSP00000437073,MYO18A,2054,"Unconventional myosin-XVIIIa; May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates t [...] " 9606.ENSP00000437082,CHI3L2,390,"Chitinase-3-like protein 2; Lectin that binds chitooligosaccharides and other glycans with high affinity, but not heparin. Has no chitinase activity. Belongs to the glycosyl hydrolase 18 family." 9606.ENSP00000437121,C4orf50,1508,Uncharacterized protein C4orf50; Chromosome 4 open reading frame 50. 9606.ENSP00000437125,HSPA8,646,"Heat shock cognate 71 kDa protein; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis a [...] " 9606.ENSP00000437188,TIAM2,1701,"T-lymphoma invasion and metastasis-inducing protein 2; Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Mediates extracellular laminin signals to activate Rac1, contributing to neurite growth. Involved in lamellipodial formation and advancement of the growth cone of embryonic hippocampal neurons. Promotes migration of neurons in the cerebral cortex. When overexpressed, induces membrane ruffling acc [...] " 9606.ENSP00000437256,DICER1,1922,"Endoribonuclease Dicer; Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, al [...] " 9606.ENSP00000437271,TNKS1BP1,1729,182 kDa tankyrase-1-binding protein; Tankyrase 1 binding protein 1. 9606.ENSP00000437289,ZAR1L,321,ZAR1-like protein; Zygote arrest 1 like; Belongs to the ZAR1 family. 9606.ENSP00000437360,ANAPC15,190,"Anaphase-promoting complex subunit 15; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating in the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20." 9606.ENSP00000437402,ENO2,434,"Gamma-enolase; Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium- dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity)." 9606.ENSP00000437409,GRAPL,118,GRB2-related adapter protein-like; GRB2 related adaptor protein like. 9606.ENSP00000437464,FBXL17,701,"F-box/LRR-repeat protein 17; Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC). FBXL17 specifically recognizes and binds a conserved degron of non-consecutive residues present at the interface of BTB dimers of aberrant composition: aberrant BTB dimer are then ubiquitinated by the SCF(FBXL17) complex and degraded by the proteaseome. The ability of the SCF(FBXL17) complex to eliminate compromised BTB di [...] " 9606.ENSP00000437468,CCDC166,439,Coiled-coil domain containing 166. 9606.ENSP00000437532,CCDC189,331,Coiled-coil domain containing 189. 9606.ENSP00000437550,LATS1,1130,"Serine/threonine-protein kinase LATS1; Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus [...] " 9606.ENSP00000437554,IQSEC3,1182,IQ motif and SEC7 domain-containing protein 3; Acts as a guanine nucleotide exchange factor (GEF) for ARF1. 9606.ENSP00000437563,KLRC3-2,240,NKG2-E type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. 9606.ENSP00000437590,ZNF891,544,Zinc finger protein 891; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000437616,ZNF611,705,Zinc finger protein 611; May be involved in transcriptional regulation. 9606.ENSP00000437621,HMGA2,147,High mobility group AT-hook 2. 9606.ENSP00000437629,OR6J1,347,Olfactory receptor 6J1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000437659,PHC1,1004,"Polyhomeotic-like protein 1; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression." 9606.ENSP00000437737,HTR2A,471,"5-hydroxytryptamine receptor 2A; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including mescaline, psilocybin, 1-(2,5-dimethoxy-4-iodophenyl)-2- aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. S [...] " 9606.ENSP00000437738,SFSWAP,1003,"Splicing factor, suppressor of white-apricot homolog; Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10." 9606.ENSP00000437775,BCORL1,1711,BCL-6 corepressor-like protein 1; Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA- binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. 9606.ENSP00000437783,LDHC,332,L-lactate dehydrogenase C chain; Possible role in sperm motility. 9606.ENSP00000437790,CDH22,828,Cadherin-22; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity). 9606.ENSP00000437832,ZNF641,438,Zinc finger protein 641; Transcriptional activator. Activates transcriptional activities of SRE and AP-1; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000437849,TRPM1,1642,"Transient receptor potential cation channel subfamily M member 1; Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel." 9606.ENSP00000437872,GPRASP2,838,G-protein coupled receptor-associated sorting protein 2; May play a role in regulation of a variety of G-protein coupled receptors. 9606.ENSP00000437910,MTRNR2L5,24,Humanin-like 5; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000437955,HIF1A,850,"Hypoxia-inducible factor 1-alpha; Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Heterodimerizes with ARNT; heterodimer binds to core DNA sequenc [...] " 9606.ENSP00000437968,HEATR5A,2046,HEAT repeat containing 5A. 9606.ENSP00000438024,VNN3,274,Vascular non-inflammatory molecule 3; Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. 9606.ENSP00000438038,KLRC1,233,NKG2-A/NKG2-B type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. 9606.ENSP00000438040,CCDC91,441,Coiled-coil domain-containing protein 91; Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes. 9606.ENSP00000438071,PAAF1,393,"Proteasomal ATPase-associated factor 1; Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation; Belongs to the WD repeat PAAF1/RPN14 family." 9606.ENSP00000438085,GGA3,723,ADP-ribosylation factor-binding protein GGA3; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif. Mediates export of the GPCR receptor ADRA2B to the cell surface. nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels. Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS [...] 9606.ENSP00000438204,TOMM5,92,Mitochondrial import receptor subunit TOM5 homolog; Translocase of outer mitochondrial membrane 5. 9606.ENSP00000438205,MANSC1,431,MANSC domain containing 1. 9606.ENSP00000438209,SP6,376,Transcription factor Sp6; Promotes cell proliferation; Belongs to the Sp1 C2H2-type zinc-finger protein family. 9606.ENSP00000438244,KLRF2,207,Killer cell lectin-like receptor subfamily F member 2; C-type lectin-like receptor involved in natural killer cell mediated cytotoxicity and cytokine secretion in keratinocytes via its interaction with CLEC2A. 9606.ENSP00000438248,CALU,323,Calumenin; Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma- carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity); Belongs to the CREC family. 9606.ENSP00000438262,TJP2,1221,Tight junction protein ZO-2; Plays a role in tight junctions and adherens junctions. 9606.ENSP00000438264,LRIT2,560,"Leucine rich repeat, Ig-like and transmembrane domains 2." 9606.ENSP00000438273,BBS12,710,"Bardet-Biedl syndrome 12 protein; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. Belongs to the TCP-1 chaperonin family. BBS12 subfamily." 9606.ENSP00000438293,MAGEA8,318,"Melanoma-associated antigen 8; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression." 9606.ENSP00000438349,TRMT112,125,"Multifunctional methyltransferase subunit TRM112-like protein; Acts as an activator of both rRNA/tRNA and protein methyltransferases. Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA. The heterodimer with HEMK2/N6AMT1 catalyzes N5- methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor. The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species. Involved in the pre-rRNA processing steps leading to [...] " 9606.ENSP00000438388,KIF1A,1791,Kinesin-like protein KIF1A; Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium- dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily. 9606.ENSP00000438399,IST1,379,"IST1 homolog; ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing. Regulates early endosomal tubulation together wi [...] " 9606.ENSP00000438400,CLDN24,220,"Putative claudin-24; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family." 9606.ENSP00000438406,SLAMF1,357,"Signaling lymphocytic activation molecule; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. SLAMF1-induced signal-transduction events in T-lymphocytes are different from those [...] " 9606.ENSP00000438455,TIMM8B,98,Mitochondrial import inner membrane translocase subunit Tim8 B; Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity). 9606.ENSP00000438465,PGAM5,289,"Serine/threonine-protein phosphatase PGAM5, mitochondrial; Displays phosphatase activity for serine/threonine residues, and, dephosphorylates and activates MAP3K5 kinase. Has apparently no phosphoglycerate mutase activity. May be regulator of mitochondrial dynamics. Substrate for a KEAP1-dependent ubiquitin ligase complex. Contributes to the repression of NFE2L2-dependent gene expression. Acts as a central mediator for programmed necrosis induced by TNF, by reactive oxygen species and by calcium ionophore." 9606.ENSP00000438468,HHAT,494,Protein-cysteine N-palmitoyltransferase HHAT; Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP; Belongs to the membrane-bound acyltransferase family. HHAT subfamily. 9606.ENSP00000438483,KPNA2,529,"Importin subunit alpha-1; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are [...] " 9606.ENSP00000438507,F5H423_HUMAN,210,Uncharacterized protein; Belongs to the small GTPase superfamily. Arf family. 9606.ENSP00000438526,KLHL35,583,Kelch-like protein 35; Kelch like family member 35. 9606.ENSP00000438553,H2AJ,129,"Histone H2A.J; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000438574,PIAS1,653,"E3 SUMO-protein ligase PIAS1; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Sumoylates PML (at'Lys-65' and 'Lys-160') and PML-RAR and promotes the [...] " 9606.ENSP00000438677,PLD4,513,"5'-3' exonuclease PLD4; 5'->3' DNA exonuclease which digests single-stranded DNA (ssDNA). Regulates inflammatory cytokine responses via the degradation of nucleic acids, by reducing the concentration of ssDNA able to stimulate TLR9, a nucleotide-sensing receptor. Involved in phagocytosis of activated microglia." 9606.ENSP00000438689,ACADVL,678,"Very long-chain specific acyl-CoA dehydrogenase, mitochondrial; Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, myristoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. Belongs to the acyl-CoA dehydrogenase family." 9606.ENSP00000438748,SMG8,991,"Protein SMG8; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity." 9606.ENSP00000438757,PRR20C,221,Proline rich 20C. 9606.ENSP00000438788,CUL7,1782,"Cullin-7; Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5. Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as [...] " 9606.ENSP00000438804,HNF1A,638,"Hepatocyte nuclear factor 1-alpha; Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'- GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity)." 9606.ENSP00000438815,OR13C2,318,Olfactory receptor 13C2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000438863,PACC1,411,Proton-activated chloride channel; Proton-activated chloride channel that mediates import of chloride ion in response to extracellular acidic pH. Involved in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling. 9606.ENSP00000438875,NOVA1,507,RNA-binding protein Nova-1; May regulate RNA splicing or metabolism in a specific subset of developing neurons. 9606.ENSP00000438886,CDK5RAP3,531,"CDK5 regulatory subunit-associated protein 3; Probable tumor suppressor initially identified as a CDK5R1 interactor controlling cell proliferation. Negatively regulates NF-kappa-B-mediated gene transcription through the control of RELA phosphorylation. Also regulates mitotic G2/M transition checkpoint and mitotic G2 DNA damage checkpoint. Through its interaction with CDKN2A/ARF and MDM2 may induce MDM2-dependent p53/TP53 ubiquitination, stabilization and activation in the nucleus, thereby promoting G1 cell cycle arrest and inhibition of cell proliferation. May play a role in the unfold [...] " 9606.ENSP00000438949,CACNB4,520,"Voltage-dependent L-type calcium channel subunit beta-4; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting." 9606.ENSP00000438993,ZCCHC8,469,Zinc finger CCHC domain-containing protein 8; Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex. NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. NEXT is involved in surveillance and turnover of aberrant transcripts and non-coding RNAs. May be involved in pre-mRNA splicing (Probable); Belongs to the ZCCHC8 family. 9606.ENSP00000439020,TUBA1A,451,"Detyrosinated tubulin alpha-1A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain." 9606.ENSP00000439056,HAUS5,633,"HAUS augmin-like complex subunit 5; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex." 9606.ENSP00000439065,COA8-2,732,Uncharacterized protein. 9606.ENSP00000439068,CRADD,199,"Death domain-containing protein CRADD; Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis. Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway." 9606.ENSP00000439120,NFE2,373,Transcription factor NF-E2 45 kDa subunit; Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1- like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron. 9606.ENSP00000439128,BANF2,97,Barrier-to-autointegration factor-like protein; May play a role in BANF1 regulation and influence tissue- specific roles of BANF1; Belongs to the BAF family. 9606.ENSP00000439170,TBCE,578,Tubulin-specific chaperone E; Tubulin folding cofactor E. 9606.ENSP00000439189,POTEE,1075,POTE ankyrin domain family member E; In the C-terminal section; belongs to the actin family. 9606.ENSP00000439228,MTRNR2L1,24,Humanin-like 1; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000439244,CIZ1,954,Cip1-interacting zinc finger protein; May regulate the subcellular localization of CIP/WAF1. 9606.ENSP00000439250,FKBP9,623,Peptidyl-prolyl cis-trans isomerase FKBP9; PPIases accelerate the folding of proteins during protein synthesis. 9606.ENSP00000439287,RIMS4,270,Regulating synaptic membrane exocytosis protein 4; Regulates synaptic membrane exocytosis. 9606.ENSP00000439378,SSUH2,375,Protein SSUH2 homolog; Plays a role in odontogenesis. 9606.ENSP00000439402,ZNF667,610,Zinc finger protein 667; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000439427,ZNF133,667,Zinc finger protein 133; May be involved in transcriptional regulation as a repressor. 9606.ENSP00000439435,ZNF415,555,Zinc finger protein 415; Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP-1 and p53/TP53. 9606.ENSP00000439444,PPIAL4D,164,Peptidyl-prolyl cis-trans isomerase A-like 4D; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. 9606.ENSP00000439467,PDCD2,344,Programmed cell death protein 2; May be a DNA-binding protein with a regulatory function. May play an important role in cell death and/or in regulation of cell proliferation. 9606.ENSP00000439479,DMXL1,3048,DmX-like protein 1; Dmx like 1. 9606.ENSP00000439585,ATXN7-2,945,Ataxin 7. 9606.ENSP00000439601,ARHGAP45,1152,"Minor histocompatibility antigen HA-1; Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR- domin which is able to play an autoinhibitory effect on this RhoGAP activity." 9606.ENSP00000439625,PLEKHG5,1085,"Pleckstrin homology domain-containing family G member 5; Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts." 9606.ENSP00000439666,MTRNR2L8,24,Humanin-like 8; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000439689,TRERF1,1220,Transcriptional-regulating factor 1; Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1. 9606.ENSP00000439768,TMEM50B,158,Transmembrane protein 50B; Belongs to the UPF0220 family. 9606.ENSP00000439800,ZMYND8,1241,Protein kinase C-binding protein 1; May act as a transcriptional corepressor for KDM5D. Required for KDM5D-mediated down-regulation of diverse metastasis-associated genes; the function seems to involve the recognition of the dual histone signature H3K4me1-H3K14ac. Suppresses prostate cancer cell invasion. 9606.ENSP00000439856,CHERP,916,"Calcium homeostasis endoplasmic reticulum protein; Involved in calcium homeostasis, growth and proliferation." 9606.ENSP00000439913,P3R3URF-PIK3R3,507,Uncharacterized protein. 9606.ENSP00000439937,HOMER3,361,"Homer protein homolog 3; Postsynaptic density scaffolding protein. Binds and cross- links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER- associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein bindin [...] " 9606.ENSP00000439985,MTRNR2L7,24,Humanin-like 7; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000440005,ARF1,181,"ADP-ribosylation factor 1; GTP-binding protein involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles. The GTP-bound form [...] " 9606.ENSP00000440038,TCEANC,381,Transcription elongation factor A N-terminal and central domain containing. 9606.ENSP00000440045,ATP2A2,1042,Sarcoplasmic/endoplasmic reticulum calcium ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic C [...] 9606.ENSP00000440066,JCHAIN,159,"Immunoglobulin J chain; Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces larger polymers. It also help to bind these immunoglobulins to secretory component." 9606.ENSP00000440077,CPNE6,612,Copine-6; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes. 9606.ENSP00000440100,MED24,1008,"Mediator of RNA polymerase II transcription subunit 24; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000440125,FAM120B,933,Constitutive coactivator of peroxisome proliferator-activated receptor gamma; Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity); Belongs to the constitutive coactivator of PPAR-gamma family. 9606.ENSP00000440163,FAM9A,332,Protein FAM9A; Family with sequence similarity 9 member A. 9606.ENSP00000440167,RAB19,217,"Ras-related protein Rab-19; RAB19, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000440185,PDYN,254,"Alpha-neoendorphin; Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity). Leumorphin has a typical opiod activity and may have anti- apoptotic effect; Belongs to the opioid neuropeptide precursor family." 9606.ENSP00000440190,TDRD3,744,"Tudor domain-containing protein 3; Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine-methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins." 9606.ENSP00000440207,TBC1D30,761,"TBC1 domain family member 30; GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro." 9606.ENSP00000440222,FMC1-LUC7L2,458,Putative RNA-binding protein Luc7-like 2; FMC1-LUC7L2 readthrough. 9606.ENSP00000440246,ME3,604,"NADP-dependent malic enzyme, mitochondrial; Malic enzyme 3; Belongs to the malic enzymes family." 9606.ENSP00000440273,SH2B2,675,"SH2B adapter protein 2; Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3." 9606.ENSP00000440288,ABCB9,766,"ATP-binding cassette sub-family B member 9; ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C- terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored. Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily." 9606.ENSP00000440329,SLC29A2,456,"Equilibrative nucleoside transporter 2; Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine." 9606.ENSP00000440331,ADIG,80,Adipogenin; Plays a role in stimulating adipocyte differentiation and development; Belongs to the adipogenin family. 9606.ENSP00000440365,ZNF124,351,Zinc finger protein 124; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000440374,MCF2L,1125,"Guanine nucleotide exchange factor DBS; Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42." 9606.ENSP00000440396,ANKRD49,239,"Ankyrin repeat domain-containing protein 49; Induces HBG1 expression. May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF-kappaB pathway (By similarity)." 9606.ENSP00000440402,DDX11,970,"ATP-dependent DNA helicase DDX11; DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis. Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single- stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction. The helicase activity is capable [...] " 9606.ENSP00000440428,CLEC4C,213,C-type lectin domain family 4 member C; Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells. Specifically recognizes non-sialylated galactose- terminated biantennary glycans containing the trisaccharide epitope Gal(beta1-3/4)GlcNAc(beta1-2)Man. Binds to serum IgG. Efficiently targets ligand into antigen-processing and peptide-loading compartments for presentation to T-cells. May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells. May act as a signaling receptor that activates protein-tyrosine k [...] 9606.ENSP00000440440,ATF7IP,1278,"Activating transcription factor 7-interacting protein 1; Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. Stabilizes SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylate [...] " 9606.ENSP00000440464,ZNF573,665,Zinc finger protein 573; May be involved in transcriptional regulation. 9606.ENSP00000440485,PSMD9,223,"26S proteasome non-ATPase regulatory subunit 9; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further base assembly process." 9606.ENSP00000440498,GDAP1L1,386,Ganglioside-induced differentiation-associated protein 1-like 1; Ganglioside induced differentiation associated protein 1 like 1. 9606.ENSP00000440502,DPP3,737,"Dipeptidyl peptidase 3; Cleaves and degrades bioactive peptides, including angiotensin, Leu-enkephalin and Met-enkephalin. Also cleaves Arg-Arg-beta-naphthylamide (in vitro)." 9606.ENSP00000440504,KIAA1958,744,Uncharacterized protein KIAA1958; KIAA1958. 9606.ENSP00000440509,TIFAB,161,TRAF-interacting protein with FHA domain-containing protein B; Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA. 9606.ENSP00000440542,CHD4,1912,Chromodomain-helicase-DNA-binding protein 4; Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Belongs to the SNF2/RAD54 helicase family. 9606.ENSP00000440556,GRM4,912,Metabotropic glutamate receptor 4; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity. 9606.ENSP00000440689,CYP2E1,493,"Cytochrome P450 2E1; A cytochrome P450 monooxygenase involved in the metabolism of fatty acids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids. May be involved in the oxidative metabolism of xenobiotics (Probable)." 9606.ENSP00000440703,NPIPB5,1133,Nuclear pore complex interacting protein family member B5. 9606.ENSP00000440704,SYTL1,562,"Synaptotagmin-like protein 1; May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity)." 9606.ENSP00000440765,METTL26,205,Methyltransferase like 26. 9606.ENSP00000440826,EVI5,821,Ecotropic viral integration site 5 protein homolog; Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis. 9606.ENSP00000440832,CACFD1,233,Calcium channel flower domain containing 1. 9606.ENSP00000440847,ZNF185,721,Zinc finger protein 185; May be involved in the regulation of cellular proliferation and/or differentiation. 9606.ENSP00000440850,PARPBP,656,"PCNA-interacting partner; Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP-ribosyl)ation activity of PARP1; however such function may be indirect; Belongs to the PARI family." 9606.ENSP00000440864,NR4A1,652,"Nuclear receptor subfamily 4 group A member 1; Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'-AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation. Plays a role in the vascular response to injury (By similarity). ECO:0000250|UniProtKB:P12813." 9606.ENSP00000440896,PLD5,536,Inactive phospholipase D5; Phospholipase D family member 5; Belongs to the phospholipase D family. 9606.ENSP00000440905,LNPK,459,Endoplasmic reticulum junction formation protein lunapark; Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology. Involved in the stabilization of nascent three-way ER tubular junctions within the ER network. May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network. May be involved in limb development (By similarity). Is involved in central nervous system development. 9606.ENSP00000440915,PRORP,583,"Mitochondrial ribonuclease P catalytic subunit; Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends. The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends." 9606.ENSP00000440945,PACSIN3,424,Protein kinase C and casein kinase substrate in neurons protein 3; Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity). 9606.ENSP00000440982,RASA4B,757,RAS p21 protein activator 4B. 9606.ENSP00000440984,AP3B2,1101,"AP-3 complex subunit beta-2; Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into [...] " 9606.ENSP00000441000,VARS2,1093,"Valine--tRNA ligase, mitochondrial; valyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000441032,GRAMD1A,724,"Protein Aster-A; Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol [...] " 9606.ENSP00000441039,GPR161,549,"G-protein coupled receptor 161; Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signalin [...] " 9606.ENSP00000441065,SLC16A1,500,"Monocarboxylate transporter 1; Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to [...] " 9606.ENSP00000441126,NDUFC1,76,"NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000441140,NOL8,1167,Nucleolar protein 8; Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post- transcriptional level or in ribosome biogenesis in cancer cells. 9606.ENSP00000441158,CLTCL1,1640,Clathrin heavy chain 2; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans- Golgi network (By similarity). 9606.ENSP00000441197,RHBG,458,Ammonium transporter Rh type B; Functions as a specific ammonium transporter. 9606.ENSP00000441214,USP36,1123,"Ubiquitin carboxyl-terminal hydrolase 36; Deubiquitinase essential for the regulation of nucleolar structure and function. Required for cell and organism viability. Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability. Functions as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 'Lys-4' trimethylation (H3K4). Specifically deubiq [...] " 9606.ENSP00000441235,TSHR,764,Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism (By similarity); Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. 9606.ENSP00000441269,ENSP00000441269,748,Solute carrier organic anion transporter family member; SLCO1B3-SLCO1B7 readthrough. 9606.ENSP00000441273,CDY2B,555,Chromodomain Y-linked 2B. 9606.ENSP00000441365,MARVELD1,173,MARVEL domain-containing protein 1; Microtubule-associated protein that exhibits cell cycle- dependent localization and can inhibit cell proliferation and migration. 9606.ENSP00000441369,PRKAB1,270,"5'-AMP-activated protein kinase subunit beta-1; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...] " 9606.ENSP00000441381,MSLNL,752,Mesothelin-like protein; May play a role in cellular adhesion; Belongs to the mesothelin family. 9606.ENSP00000441405,ZNF664,261,Zinc finger protein 664; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000441410,ZNF135,682,Zinc finger protein 135; Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000441434,NNMT,264,Nicotinamide N-methyltransferase; Catalyzes the N-methylation of nicotinamide and other pyridines to form pyridinium ions. This activity is important for biotransformation of many drugs and xenobiotic compounds. 9606.ENSP00000441543,UBC,685,"Polyubiquitin-C; [Ubiquitin]: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair [...] " 9606.ENSP00000441600,CCR3,376,"C-C chemokine receptor type 3; Receptor for C-C type chemokine. Binds and responds to a variety of chemokines, including CCL11, CCL26, CCL7, CCL13, RANTES(CCL5) and CCL15. Subsequently transduces a signal by increasing the intracellular calcium ions level. In addition acts as a possible functional receptor for NARS1." 9606.ENSP00000441624,TAS2R20,309,"Taste receptor type 2 member 20; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000441641,PRR14,585,"Proline-rich protein 14; Functions in tethering peripheral heterochromatin to the nuclear lamina during interphase, possibly through the interaction with heterochromatin protein CBX5/HP1 alpha. Might play a role in reattaching heterochromatin to the nuclear lamina at mitotic exit. Promotes myoblast differentiation during skeletal myogenesis, possibly by stimulating transcription factor MyoD activity via binding to CBX5/HP1 alpha. Involved in the positive regulation of the PI3K-Akt-mTOR signaling pathway and in promoting cell proliferation, possibly via binding to GRB2." 9606.ENSP00000441685,PDZD9,204,PDZ domain containing 9. 9606.ENSP00000441726,CLUL1,518,Clusterin-like protein 1; Clusterin like 1. 9606.ENSP00000441755,DYRK4,520,Dual specificity tyrosine-phosphorylation-regulated kinase 4; Possible non-essential role in spermiogenesis. 9606.ENSP00000441765,PTHLH,177,"Parathyroid hormone-related protein; Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity o [...] " 9606.ENSP00000441786,CXorf56,208,UPF0428 protein CXorf56; Chromosome X open reading frame 56. 9606.ENSP00000441802,PCDH7,1072,Protocadherin-7; Protocadherin 7. 9606.ENSP00000441823,SALL3,1300,Sal-like protein 3; Probable transcription factor. 9606.ENSP00000441828,HPR,348,"Haptoglobin-related protein; Primate-specific plasma protein associated with apolipoprotein L-I (apoL-I)-containing high-density lipoprotein (HDL). This HDL particle, termed trypanosome lytic factor-1 (TLF-1), mediates human innate immune protection against many species of African trypanosomes. Binds hemoglobin with high affinity and may contribute to the clearance of cell-free hemoglobin to allow hepatic recycling of heme iron." 9606.ENSP00000441831,FNDC3A,1198,Fibronectin type-III domain-containing protein 3A; Mediates spermatid-Sertoli adhesion during spermatogenesis. Belongs to the FNDC3 family. 9606.ENSP00000441838,ZNF567,647,Zinc finger protein 567; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000441858,DMXL2,3037,DmX-like protein 2; May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity). 9606.ENSP00000441875,PHB2,299,"Prohibitin-2; Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. In mitochondria, regulates cytochrome-c oxidase assembly (COX) and mitochondrial respiration. Binding to sphingoid 1-phosphate (SPP) modulates its regulator activity." 9606.ENSP00000441913,ARHGEF28,1731,"Rho guanine nucleotide exchange factor 28; Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity)." 9606.ENSP00000441927,SESN3,492,Sestrin-3; May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway. May also regulate the insulin-receptor signaling pathway through activation of TORC2 (By similarity). This metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). 9606.ENSP00000441929,MUC12,5335,"Mucin-12; Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium." 9606.ENSP00000441930,PIH1D3,214,Protein PIH1D3; Plays a role in cytoplasmic pre-assembly of axonemal dynein. Belongs to the PIH1 family. 9606.ENSP00000441949,TAS2R14,317,"Taste receptor type 2 member 14; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000441953,ORC4,436,"Origin recognition complex subunit 4; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3; Belongs to the ORC4 family." 9606.ENSP00000441954,SMAD5,465,Mothers against decapentaplegic homolog 5; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor- regulated SMAD (R-SMAD). 9606.ENSP00000441980,CEPT1,416,"Choline/ethanolaminephosphotransferase 1; Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP- ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity." 9606.ENSP00000442008,KIFC3,848,Kinesin-like protein KIFC3; Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance. 9606.ENSP00000442046,TMTC1,882,"Protein O-mannosyl-transferase TMTC1; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3." 9606.ENSP00000442047,UTY,1444,Histone demethylase UTY; Male-specific histone demethylase that catalyzes trimethylated 'Lys-27' (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity. Belongs to the UTX family. 9606.ENSP00000442050,PCYT2,407,Ethanolamine-phosphate cytidylyltransferase; Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP- ethanolamine. 9606.ENSP00000442053,RBM19,960,Probable RNA-binding protein 19; Plays a role in embryo pre-implantation development. 9606.ENSP00000442060,MAFF,164,"Transcription factor MafF; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2L1/NRF1, and recruiting them to specific DNA-binding sites. Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Belongs to the bZIP family. Maf subfamily." 9606.ENSP00000442068,CDCA3,268,Cell division cycle-associated protein 3; F-box-like protein which is required for entry into mitosis. Acts by participating in E3 ligase complexes that mediate the ubiquitination and degradation of WEE1 kinase at G2/M phase (By similarity). 9606.ENSP00000442129,HDGFL1,251,Hepatoma-derived growth factor-like protein 1; HDGF like 1; Belongs to the HDGF family. 9606.ENSP00000442157,PIANP,282,"PILR alpha-associated neural protein; Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation." 9606.ENSP00000442159,MTRNR2L10,24,Humanin-like 10; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000442224,C12orf43,293,Protein CUSTOS; Plays a role in the regulation of Wnt signaling pathway during early development. 9606.ENSP00000442291,IQCC,546,IQ motif containing C. 9606.ENSP00000442304,ERFE,354,"Erythroferrone; Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake. Belongs to the adipolin/erythroferrone family." 9606.ENSP00000442307,ECT2L,904,Epithelial cell-transforming sequence 2 oncogene-like; May act as a guanine nucleotide exchange factor (GEF). 9606.ENSP00000442308,NKRF,705,"NF-kappa-B-repressing factor; Interacts with a specific negative regulatory element (NRE) 5'-AATTCCTCTGA-3' to mediate transcriptional repression of certain NK- kappa-B responsive genes. Involved in the constitutive silencing of the interferon beta promoter, independently of the virus-induced signals, and in the inhibition of the basal and cytokine-induced iNOS promoter activity. Also involved in the regulation of IL-8 transcription." 9606.ENSP00000442318,CAND1,1230,"Cullin-associated NEDD8-dissociated protein 1; Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate- recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar [...] " 9606.ENSP00000442373,ZDHHC11B,371,Probable palmitoyltransferase ZDHHC11B; Zinc finger DHHC-type containing 11B. 9606.ENSP00000442397,SLC34A3,599,Sodium-dependent phosphate transport protein 2C; May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx. 9606.ENSP00000442400,KRTCAP3,240,Keratinocyte associated protein 3. 9606.ENSP00000442424,IL22,179,Interleukin-22; Cytokine that contributes to the inflammatory response in vivo. 9606.ENSP00000442439,MIXL1,240,"Homeobox protein MIXL1; Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity)." 9606.ENSP00000442460,PTK6,451,"Protein-tyrosine kinase 6; Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecule [...] " 9606.ENSP00000442464,NCEH1,448,"Neutral cholesterol ester hydrolase 1; Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages, thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration." 9606.ENSP00000442477,ASIC5,505,"Acid-sensing ion channel 5; Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily." 9606.ENSP00000442478,STOML1,398,Stomatin-like protein 1; May play a role in cholesterol transfer to late endosomes. May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation ; Belongs to the band 7/mec-2 family. 9606.ENSP00000442515,TTLL9,439,"Probable tubulin polyglutamylase TTLL9; Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Acts when complexed with other proteins. By mediating tubulin polyglutamylation, plays a role in the establishment of microtubule heterogeneity in sperm flagella." 9606.ENSP00000442521,BEX2,160,"Protein BEX2; Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer. Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti- apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA. Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A. Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity; Belongs to the BEX [...] " 9606.ENSP00000442553,PODNL1,510,Podocan-like protein 1; Podocan like 1. 9606.ENSP00000442563,POLG2,485,"DNA polymerase subunit gamma-2, mitochondrial; Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA." 9606.ENSP00000442573,ZNF668,642,Zinc finger protein 668; May be involved in transcriptional regulation. 9606.ENSP00000442600,DAG1,895,"Alpha-dystroglycan; The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization. Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non- muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell ad [...] " 9606.ENSP00000442626,PRB3,351,Basic salivary proline-rich protein 3; Acts as a receptor for the Gram-negative bacterium F.nucleatum. 9606.ENSP00000442656,ACVR1B,546,"Activin receptor type-1B; Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine [...] " 9606.ENSP00000442658,PTAFR,342,"Platelet-activating factor receptor; Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol-calcium second messenger system. Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000442682,ADAP1,385,"Arf-GAP with dual PH domain-containing protein 1; GTPase-activating protein for the ADP ribosylation factor family (Probable). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4)." 9606.ENSP00000442688,MFSD5,557,Molybdate-anion transporter; Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum; Belongs to the major facilitator superfamily. 9606.ENSP00000442699,HTATSF1,755,"HIV Tat-specific factor 1; Functions as a general transcription factor playing a role in the process of transcriptional elongation. May mediate the reciprocal stimulatory effect of splicing on transcriptional elongation. In case of infection by HIV-1, it is up-regulated by the HIV-1 proteins NEF and gp120, acts as a cofactor required for the Tat-enhanced transcription of the virus." 9606.ENSP00000442701,OR5AP2,316,Olfactory receptor 5AP2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000442736,PLXNB3,1932,"Plexin-B3; Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA- mediated inactivation of RAC1; Belongs to the plexin family." 9606.ENSP00000442756,FXYD6,95,FXYD domain containing ion transport regulator 6. 9606.ENSP00000442770,GPN3,323,GPN-loop GTPase 3; Small GTPase required for proper localization of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family. 9606.ENSP00000442786,LMO3,167,LIM domain only 3. 9606.ENSP00000442788,TET2,2002,"Methylcytosine dioxygenase TET2; Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mam [...] " 9606.ENSP00000442793,BEAN1,259,Protein BEAN1; Brain expressed associated with NEDD4 1. 9606.ENSP00000442795,MYBPC3,1274,"Myosin-binding protein C, cardiac-type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F- actin and native thin filaments, and modifies the activity of actin- activated myosin ATPase. It may modulate muscle contraction or may play a more structural role." 9606.ENSP00000442837,RGS13,159,Regulator of G-protein signaling 13; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to both G(i)-alpha and G(q)-alpha (By similarity). 9606.ENSP00000442920,SOD2-2,176,Superoxide dismutase; Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the iron/manganese superoxide dismutase family. 9606.ENSP00000442954,APC2,2303,Adenomatous polyposis coli protein 2; Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases. May also function in Wnt signaling by promoting the rapid degradation of CTNNB1. Belongs to the adenomatous polyposis coli (APC) family. 9606.ENSP00000442973,DAPK3,454,"Death-associated protein kinase 3; Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase-dependent) apoptotic and type II (caspase-independent) autophagic cell deaths signal, depending on the cellular setting. Involved in regulation of starvation-induced autophagy. Regulates myosin phosphorylation in both smooth muscle and non-muscle cells. In smooth muscle, regulates myosin either directly by phosphoryl [...] " 9606.ENSP00000442982,GPR17,367,Uracil nucleotide/cysteinyl leukotriene receptor; Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000443017,H4-16,103,H4 histone 16. 9606.ENSP00000443021,RASSF3,238,Ras association domain family member 3. 9606.ENSP00000443113,ZCCHC7,543,Zinc finger CCHC-type containing 7. 9606.ENSP00000443130,F5H5T6_HUMAN,163,Uncharacterized protein. 9606.ENSP00000443133,FAM180B,183,Protein FAM180B; Family with sequence similarity 180 member B. 9606.ENSP00000443168,STH,128,Saitohin. 9606.ENSP00000443176,RSPRY1,576,Ring finger and SPRY domain containing 1. 9606.ENSP00000443194,NAT1,352,Arylamine N-acetyltransferase 1; Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. 9606.ENSP00000443204,C2CD5,1054,C2 domain-containing protein 5; Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM. 9606.ENSP00000443216,TMEM258,79,"Transmembrane protein 258; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are requ [...] " 9606.ENSP00000443246,F5H5P2_HUMAN,479,"2-oxoisovalerate dehydrogenase subunit alpha; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)." 9606.ENSP00000443256,LPAR2,351,"Lysophosphatidic acid receptor 2; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Seems to be coupled to the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Plays a key role in phospholipase C-beta (PLC-beta) signaling pathway. Stimulates phospholipase C (PLC) activity in a manner that is independent of RALA activation." 9606.ENSP00000443291,FAR2,515,Fatty acyl-CoA reductase 2; Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates. It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity). 9606.ENSP00000443292,FAM222A,452,Protein FAM222A; Family with sequence similarity 222 member A; Belongs to the FAM222 family. 9606.ENSP00000443339,MTRNR2L3,24,Humanin-like 3; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000443410,TENT5D,389,Terminal nucleotidyltransferase 5D; Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase; Belongs to the TENT family. 9606.ENSP00000443411,FAM92B,304,Protein FAM92B; May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis. 9606.ENSP00000443432,IDO2,420,"Indoleamine 2,3-dioxygenase 2; Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway. Involved in immune regulation. May not play a significant role in tryptophan-related tumoral resistance." 9606.ENSP00000443459,BCAT1,398,"Branched-chain-amino-acid aminotransferase, cytosolic; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine." 9606.ENSP00000443475,TUBA1C,519,"Detyrosinated tubulin alpha-1C chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Belongs to the tubulin family." 9606.ENSP00000443598,FAM214A,1083,Protein FAM214A; Family with sequence similarity 214 member A; Belongs to the FAM214 family. 9606.ENSP00000443631,PLCB3,1234,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes." 9606.ENSP00000443647,AUNIP,371,"Aurora kinase A and ninein-interacting protein; DNA-binding protein that accumulates at DNA double-strand breaks (DSBs) following DNA damage and promotes DNA resection and homologous recombination. Serves as a sensor of DNA damage: binds DNA with a strong preference for DNA substrates that mimic structures generated at stalled replication forks, and anchors RBBP8/CtIP to DSB sites to promote DNA end resection and ensuing homologous recombination repair. Inhibits non- homologous end joining (NHEJ). Required for the dynamic movement of AURKA at the centrosomes and spindle apparatus durin [...] " 9606.ENSP00000443654,TBC1D10C,446,Carabin; Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras. 9606.ENSP00000443795,COA4,87,"Cytochrome c oxidase assembly factor 4 homolog, mitochondrial; Putative COX assembly factor; Belongs to the COA4 family." 9606.ENSP00000443824,ZNRF3,936,"E3 ubiquitin-protein ligase ZNRF3; E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone. Along with RSPO2 and RNF43, constitutes a master switch that governs limb specification (By similarity); Belongs to the ZNRF3 [...] " 9606.ENSP00000443827,SP7,431,Transcription factor Sp7; Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity). 9606.ENSP00000443900,LYRM4,130,LYR motif-containing protein 4; Required for nuclear and mitochondrial iron-sulfur protein biosynthesis; Belongs to the complex I LYR family. 9606.ENSP00000443957,ZNF580,172,Zinc finger protein 580; Involved in the regulation of endothelial cell proliferation and migration. Mediates H(2)O(2)-induced leukocyte chemotaxis by elevating interleukin-8 production and may play a role in inflammation. May be involved in transcriptional regulation. 9606.ENSP00000443965,ADK,362,Adenosine kinase; ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides; Belongs to the carbohydrate kinase PfkB family. 9606.ENSP00000443985,CPEB2,1034,"Cytoplasmic polyadenylation element-binding protein 2; May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase ; Belongs to the RRM CPEB family." 9606.ENSP00000443988,SUDS3,328,Sin3 histone deacetylase corepressor complex component SDS3; Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes. 9606.ENSP00000444029,NUP153,1506,"Nuclear pore complex protein Nup153; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. [...] " 9606.ENSP00000444052,CES4A,468,Carboxylesterase 4A; Probable carboxylesterase. 9606.ENSP00000444054,OR52E8,317,Olfactory receptor 52E8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000444076,MYO1H,1022,"Unconventional myosin-Ih; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity)." 9606.ENSP00000444096,NPIPB3,420,Nuclear pore complex interacting protein family member B3. 9606.ENSP00000444134,OR7G1,311,Olfactory receptor 7G1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000444136,POLR1B,1173,DNA-directed RNA polymerase I subunit RPA2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). 9606.ENSP00000444149,SLCO1C1,730,"Solute carrier organic anion transporter family member 1C1; Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta- glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a significant role in regulating T4 flux into and out of the brain (By similarity). Belongs to the organo anion transporter (TC 2.A.60) family." 9606.ENSP00000444156,ARMC6,501,Armadillo repeat containing 6. 9606.ENSP00000444198,CITED2,275,"Cbp/p300-interacting transactivator 2; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts [...] " 9606.ENSP00000444201,SYT7,478,"Synaptotagmin-7; Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory and synaptic vesicles through Ca(2+) and phospholipid binding to the C2 domain (By similarity). Ca(2+) induces binding of the C2- domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). SYT7 binds Ca(2+) with high affinity and slow kinetics compared to other synaptotagmins (By similarity). Involved in Ca(2+)-triggered lysosomal exocytosis, a major component of the plasma membrane repair. Ca(2+)-regulated delivery of lysosomal [...] " 9606.ENSP00000444210,RAI2,530,Retinoic acid induced 2. 9606.ENSP00000444211,PDGFRL,375,Platelet-derived growth factor receptor-like protein; Platelet derived growth factor receptor like. 9606.ENSP00000444215,TNFAIP8L1,186,Tumor necrosis factor alpha-induced protein 8-like protein 1; Acts as a negative regulator of mTOR activity. Belongs to the TNFAIP8 family. 9606.ENSP00000444271,C1R,719,"Complement C1r subcomponent heavy chain; C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system; Belongs to the peptidase S1 family." 9606.ENSP00000444278,PRRG1,218,Transmembrane gamma-carboxyglutamic acid protein 1; Proline rich and Gla domain 1. 9606.ENSP00000444339,ZNF701,531,Zinc finger protein 701; May be involved in transcriptional regulation. 9606.ENSP00000444357,OTUB1,271,"Ubiquitin thioesterase OTUB1; Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy. Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surpr [...] " 9606.ENSP00000444408,SLC1A5,541,"Neutral amino acid transporter B(0); Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids. Through binding of the fusogenic protein syncytin- 1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development. (Microbial infection) Acts as a cell s [...] " 9606.ENSP00000444411,FRMPD1,1578,"FERM and PDZ domain-containing protein 1; Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1." 9606.ENSP00000444412,ZNF268,947,Zinc finger protein 268; [Isoform 1]: Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000444425,ADGRD1,906,Adhesion G-protein coupled receptor D1; Orphan receptor. Signals via G(s)-alpha family of G-proteins. Has protumorigenic function especially in glioblastoma. 9606.ENSP00000444433,SCO2,266,"Protein SCO2 homolog, mitochondrial; Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2. Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2." 9606.ENSP00000444503,SEBOX,190,Homeobox protein SEBOX; Probable transcription factor involved in the control of specification of mesoderm and endoderm; Belongs to the paired homeobox family. 9606.ENSP00000444533,KRT86,486,"Keratin, type II cuticular Hb6." 9606.ENSP00000444537,ARMCX6,300,Protein ARMCX6; May regulate the dynamics and distribution of mitochondria in neural cells; Belongs to the eutherian X-chromosome-specific Armcx family. 9606.ENSP00000444561,TMEM14C,112,Transmembrane protein 14C; Required for normal heme biosynthesis. 9606.ENSP00000444565,TMUB2,321,Transmembrane and ubiquitin like domain containing 2. 9606.ENSP00000444586,LOXHD1,2211,Lipoxygenase homology domain-containing protein 1; Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). 9606.ENSP00000444596,MYCBP2,4678,"E3 ubiquitin-protein ligase MYCBP2; Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues. Shows esterification activity towards both threonine and serine, with a preference for threonine, and acts via two essential catalytic cysteine residues that relay ubiquitin to its substrate via thioester intermediates. Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3. Plays a key role in neural development, probably by mediating ubiquitination of threonine resid [...] " 9606.ENSP00000444628,GLB1L2,636,Beta-galactosidase-1-like protein 2; Galactosidase beta 1 like 2. 9606.ENSP00000444660,YTHDF2,579,"YTH domain-containing family protein 2; Specifically recognizes and binds N6-methyladenosine (m6A)- containing RNAs, and regulates mRNA stability. M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing. Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT and ribonuclease P/MRP complexes, depending on the context. M6A-containing mRNAs containing a binding site for RIDA/HRSP12 (5'-GGUUC-3') are preferentially degraded by endoribonucleolytic cle [...] " 9606.ENSP00000444688,ATP1A3,1026,"Sodium/potassium-transporting ATPase subunit alpha-3; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily." 9606.ENSP00000444736,TAS2R30,319,"Taste receptor type 2 member 30; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family." 9606.ENSP00000444743,SSH2,1450,"Protein phosphatase Slingshot homolog 2; Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein." 9606.ENSP00000444747,ZNF835,537,Zinc finger protein 835; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000444788,TDO2,406,"Tryptophan 2,3-dioxygenase; Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L- tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety." 9606.ENSP00000444810,FKBP5,457,"Peptidyl-prolyl cis-trans isomerase FKBP5; Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded. Acts as a regulator of Akt/AKT1 activity by promoting the interaction between Akt/AKT1 and PHLPP1, thereby enhancing dephosphorylation and subsequent activation of Akt/AKT1." 9606.ENSP00000444812,ZNF324,553,Zinc finger protein 324A; May be involved in transcriptional regulation. May be involved in regulation of cell proliferation. Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000444839,FXYD5,194,FXYD domain-containing ion transport regulator 5; Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis. Belongs to the FXYD family. 9606.ENSP00000444889,DENND5B,1309,"DENN domain-containing protein 5B; Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form." 9606.ENSP00000444896,NUTM1,1160,NUT family member 1; Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites. 9606.ENSP00000444935,PAFAH1B3,231,Platelet-activating factor acetylhydrolase IB subunit gamma; Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain; Belongs to the 'GDSL' lipolytic enzyme family. Platelet- activating factor acetylhydrolase IB beta/gamma subunits subfamily. 9606.ENSP00000445001,INTS11,606,"Integrator complex subunit 11; Catalytic component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex ; Belongs to the metallo-beta-lactamase superfamily. RNA- metabolizing metallo-beta [...] " 9606.ENSP00000445002,APOA5,366,Apolipoprotein A-V; Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin. 9606.ENSP00000445043,FRY,3013,"Protein furry homolog; Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation. Belongs to the furry protein family." 9606.ENSP00000445122,HSD3B2,372,"3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids." 9606.ENSP00000445135,NLRP2,1062,"NACHT, LRR and PYD domains-containing protein 2; Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature proinflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of proinflammatory caspases; Belongs to the NLRP family." 9606.ENSP00000445162,GTF2H3,308,"General transcription factor IIH subunit 3; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...] " 9606.ENSP00000445175,LDHA,361,Lactate dehydrogenase A; Belongs to the LDH/MDH superfamily. LDH family. 9606.ENSP00000445247,PRR19,356,Proline-rich protein 19; Proline rich 19. 9606.ENSP00000445277,PTX4,478,Pentraxin-4; Pentraxin 4. 9606.ENSP00000445280,ZDHHC11B-2,371,Zinc finger DHHC-type containing 11B. 9606.ENSP00000445306,ATP1A1,1023,"Sodium/potassium-transporting ATPase subunit alpha-1; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily." 9606.ENSP00000445323,ZNF559-ZNF177,321,ZNF559-ZNF177 readthrough. 9606.ENSP00000445340,SLC5A8,610,"Sodium-coupled monocarboxylate transporter 1; Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)- dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D- lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5- aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. M [...] " 9606.ENSP00000445366,DND1,353,"Dead end protein homolog 1; RNA-binding factor that positively regulates gene expression by prohibiting miRNA-mediated gene suppression. Relieves miRNA repression in germline cells (By similarity). Prohibits the function of several miRNAs by blocking the accessibility of target mRNAs. Sequence- specific RNA-binding factor that binds specifically to U-rich regions (URRs) in the 3' untranslated region (3'-UTR) of several mRNAs. Does not bind to miRNAs. May play a role during primordial germ cell (PGC) survival (By similarity). However, does not seem to be essential for PGC migration (By [...] " 9606.ENSP00000445381,PIK3C2G,1486,"Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. May play a role in SDF1A-stimulated chemotaxis (By similarity); Belongs to the PI3/PI4-kinase family." 9606.ENSP00000445383,OR10G2,310,Olfactory receptor 10G2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000445408,RABEP1,862,"Rab GTPase-binding effector protein 1; Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane. Stimulates RABGEF1 mediated nucleotide exchange on RAB5A. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity). Belongs to the rabaptin family." 9606.ENSP00000445418,FAM90A1,464,Protein FAM90A1; Family with sequence similarity 90 member A1. 9606.ENSP00000445440,PHKG1,419,"Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform; Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity)." 9606.ENSP00000445492,ST8SIA5,412,"Alpha-2,8-sialyltransferase 8E; May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively. Belongs to the glycosyltransferase 29 family." 9606.ENSP00000445508,CNOT4,713,"CCR4-NOT transcription complex subunit 4; Has E3 ubiquitin ligase activity, promoting ubiquitination and degradation of target proteins. Involved in activation of the JAK/STAT pathway. Catalyzes ubiquitination of methylated RBM15." 9606.ENSP00000445595,KCNS1,526,Potassium voltage-gated channel subfamily S member 1; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 and KCNB2. 9606.ENSP00000445622,ASB8,288,Ankyrin repeat and SOCS box protein 8; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000445626,EGR4,589,Early growth response protein 4; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCGGGGGCG-3' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity). 9606.ENSP00000445633,H2BC8,126,H2B clustered histone 8. 9606.ENSP00000445675,PRAME,509,"Melanoma antigen preferentially expressed in tumors; Functions as a transcriptional repressor, inhibiting the signaling of retinoic acid through the retinoic acid receptors RARA, RARB and RARG. Prevents retinoic acid-induced cell proliferation arrest, differentiation and apoptosis." 9606.ENSP00000445688,ANKRD65,399,Ankyrin repeat domain 65. 9606.ENSP00000445725,RNF170,258,"E3 ubiquitin-protein ligase RNF170; E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells." 9606.ENSP00000445757,NELFA,539,"Negative elongation factor A; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P- TEFb kinase complex; Belongs to the NELF-A family." 9606.ENSP00000445768,DENND11,455,"DENN domain-containing protein 11; Probable guanine nucleotide exchange factor (GEF). May promote the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (Probable). May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia (By similarity)." 9606.ENSP00000445772,LTB4R2,358,Leukotriene B4 receptor 2; Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3. 9606.ENSP00000445786,FAM216B,139,Protein FAM216B; Family with sequence similarity 216 member B; Belongs to the FAM216 family. 9606.ENSP00000445806,TIMM50,456,"Mitochondrial import inner membrane translocase subunit TIM50; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo." 9606.ENSP00000445829,SLC39A11,342,Zinc transporter ZIP11; Functions as a cellular zinc transporter. 9606.ENSP00000445831,H2BC18,134,"Histone H2B type 2-F; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000445868,BCL7A,231,B-cell CLL/lymphoma 7 protein family member A; BAF chromatin remodeling complex subunit BCL7A. 9606.ENSP00000445905,EVI5L,805,EVI5-like protein; Functions as a GTPase-activating protein (GAP) with a broad specificity. 9606.ENSP00000445920,MMAB,250,Corrinoid adenosyltransferase; Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA. 9606.ENSP00000445929,SLC2A14,535,"Solute carrier family 2, facilitated glucose transporter member 14; Hexose transporter that can mediate the transport of glucose and dehydroascorbate across the cell membrane." 9606.ENSP00000445979,ZNF623,536,Zinc finger protein 623; May be involved in transcriptional regulation. 9606.ENSP00000446007,VIM,466,"Vimentin; Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally." 9606.ENSP00000446039,COPS7A,275,"COP9 signalosome complex subunit 7a; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF- type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-de [...] " 9606.ENSP00000446054,BEX5,111,Protein BEX5; Brain expressed X-linked 5; Belongs to the BEX family. 9606.ENSP00000446058,SHD,340,SH2 domain-containing adapter protein D; May function as an adapter protein. 9606.ENSP00000446093,TUBGCP2,930,Gamma-tubulin complex component 2; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. 9606.ENSP00000446099,RBMXL1,390,"RNA binding motif protein, X-linked-like-1; RNA-binding protein which may be involved in pre-mRNA splicing." 9606.ENSP00000446100,CMIP,773,C-Maf-inducing protein; Plays a role in T-cell signaling pathway. Isoform 2 may play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor. 9606.ENSP00000446101,C12orf56,622,Uncharacterized protein C12orf56; Chromosome 12 open reading frame 56. 9606.ENSP00000446184,RRP12,1297,RRP12-like protein; Ribosomal RNA processing 12 homolog. 9606.ENSP00000446205,HES7,230,"Transcription factor HES-7; Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity)." 9606.ENSP00000446215,RAN,216,"GTP-binding nuclear protein Ran; GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs. Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis. Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP-bound RAN and release them upon direct interaction with GTP-bound RAN, while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment [...] " 9606.ENSP00000446224,ZNF550,422,Zinc finger protein 550; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000446242,SLC25A10,406,Mitochondrial dicarboxylate carrier; Solute carrier family 25 member 10; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000446252,SOD2,222,"Superoxide dismutase [Mn], mitochondrial; Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. Belongs to the iron/manganese superoxide dismutase family." 9606.ENSP00000446271,LSM14A,463,"Protein LSM14 homolog A; Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for non-translating mRNAs." 9606.ENSP00000446278,LRTM2,370,Leucine rich repeats and transmembrane domains 2. 9606.ENSP00000446280,PCSK5,1860,"Proprotein convertase subtilisin/kexin type 5; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins; Belongs to the peptidase S8 family." 9606.ENSP00000446335,ZNF362,420,Zinc finger protein 362; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000446460,GCSAML,135,Germinal center associated signaling and motility like. 9606.ENSP00000446479,FICD,458,"Protein adenylyltransferase FICD; Protein that can both mediate the addition of adenosine 5'- monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context (By similarity). The side chain of Glu-231 determines which of the two opposing activities (AMPylase or de-AMPylase) will take place (By similarity). Acts as a key regulator of the ERN1/IRE1-mediated unfolded protein response (UPR) by mediating AMPylation or de-AMPylation of HSPA5/BiP. In unstressed cells, acts as an a [...] " 9606.ENSP00000446485,GTSF1,167,Gametocyte-specific factor 1; Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells. Belongs to the UPF0224 (FAM112) family. 9606.ENSP00000446576,ATXN2,1313,"Ataxin-2; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane." 9606.ENSP00000446680,HOXC11,304,Homeobox protein Hox-C11; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene; Belongs to the Abd-B homeobox family. 9606.ENSP00000446688,PCED1B,432,PC-esterase domain containing 1B; Belongs to the PC-esterase family. 9606.ENSP00000446743,F8W031_HUMAN,263,DUF3456 domain-containing protein. 9606.ENSP00000446828,BPNT1,308,"3'(2'),5'-bisphosphate nucleotidase 1; Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6; Belongs to the inositol monophosphatase superfamily." 9606.ENSP00000446830,DNAJC22,341,DnaJ homolog subfamily C member 22; May function as a co-chaperone. 9606.ENSP00000446872,GATC,136,"Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Belongs to the GatC family." 9606.ENSP00000446880,BAZ2A,1905,"Bromodomain adjacent to zinc finger domain protein 2A; Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H [...] " 9606.ENSP00000446882,NPIPA2,350,Nuclear pore complex interacting protein family member A2; Belongs to the NPIP family. 9606.ENSP00000446902,NPIPB9,429,Nuclear pore complex interacting protein family member B9; Belongs to the NPIP family. 9606.ENSP00000446916,PRSS58,241,Serine protease 58; Belongs to the peptidase S1 family. 9606.ENSP00000446917,APPL2,670,"DCC-interacting protein 13-beta; Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism. Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex. Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 lea [...] " 9606.ENSP00000446955,MYL6,151,Myosin light polypeptide 6; Regulatory light chain of myosin. Does not bind calcium. 9606.ENSP00000447000,H0YHG0_HUMAN,523,Uncharacterized protein. 9606.ENSP00000447001,RPL18,188,60S ribosomal protein L18; Component of the large ribosomal subunit. 9606.ENSP00000447006,CNTN1,1018,Contactin-1; Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurit [...] 9606.ENSP00000447053,RAB5C,249,Ras-related protein Rab-5C; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000447056,F8W1H4_HUMAN,67,Uncharacterized protein. 9606.ENSP00000447057,C12orf45,185,Uncharacterized protein C12orf45; Chromosome 12 open reading frame 45. 9606.ENSP00000447091,SLC8B1,584,"Mitochondrial sodium/calcium exchanger protein; Mitochondrial sodium/calcium antiporter that mediates sodium- dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion. Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of c [...] " 9606.ENSP00000447109,C12orf54,127,Uncharacterized protein C12orf54; Chromosome 12 open reading frame 54. 9606.ENSP00000447121,CHURC1-FNTB,471,Protein farnesyltransferase subunit beta; Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. 9606.ENSP00000447149,NR1H4,486,"Bile acid receptor; Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response. The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5'-AGGTCA-3' in wh [...] " 9606.ENSP00000447211,OTOGL,2353,Otogelin-like protein; Otogelin like. 9606.ENSP00000447241,FRS2,508,"Fibroblast growth factor receptor substrate 2; Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1." 9606.ENSP00000447297,TGFBR1,507,"TGF-beta receptor type-1; Transmembrane serine/threonine kinase forming with the TGF- beta type II serine/threonine kinase receptor, TGFBR2, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinog [...] " 9606.ENSP00000447300,RAB3IP,476,"Rab-3A-interacting protein; Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface forma [...] " 9606.ENSP00000447378,MGAM,1857,"Maltase-glucoamylase, intestinal; May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing." 9606.ENSP00000447488,LIN7A,233,"Protein lin-7 homolog A; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] " 9606.ENSP00000447537,BLOC1S1,153,"Biogenesis of lysosome-related organelles complex 1 subunit 1; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movemen [...] " 9606.ENSP00000447597,NPIPB12,595,Nuclear pore complex interacting protein family member B12. 9606.ENSP00000447650,F8W036_HUMAN,122,Uncharacterized protein. 9606.ENSP00000447651,MTERF2,385,"Transcription termination factor 2, mitochondrial; Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species. Belongs to the mTERF family." 9606.ENSP00000447679,INAFM1,142,Putative transmembrane protein INAFM1; InaF motif containing 1. 9606.ENSP00000447730,CD63,238,"CD63 antigen; Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal tr [...] " 9606.ENSP00000447731,TMEM116,337,Transmembrane protein 116. 9606.ENSP00000447852,POC1B-GALNT4,575,Polypeptide N-acetylgalactosaminyltransferase; POC1B-GALNT4 readthrough. 9606.ENSP00000447879,ZBED6,979,Zinc finger BED domain-containing protein 6; Transcriptional repressor which binds to the consensus sequence 5'-GCTCGC-3' and represses transcription of IGF2. May also regulate expression of other target genes containing this consensus binding site (By similarity). 9606.ENSP00000447931,ZNF878,531,Zinc finger protein 878; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000447942,PFDN5,154,Prefoldin subunit 5; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC. 9606.ENSP00000448012,CEP290,2479,Centrosomal protein of 290 kDa; Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Required for the correct localization of ciliary and phototransduction proteins in retinal photorecepto [...] 9606.ENSP00000448035,NACA,925,Nascent polypeptide associated complex subunit alpha. 9606.ENSP00000448047,WSCD2,565,WSC domain containing 2; Belongs to the WSCD family. 9606.ENSP00000448051,DAZAP2,207,DAZ associated protein 2. 9606.ENSP00000448054,NUP37,326,"Nucleoporin Nup37; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation." 9606.ENSP00000448059,PAH,452,Phenylalanine-4-hydroxylase; Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. 9606.ENSP00000448062,POTEM,508,POTE ankyrin domain family member M; Belongs to the POTE family. 9606.ENSP00000448071,SLC16A7,478,"Monocarboxylate transporter 2; Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Functions as high-affinity pyruvate transporter; Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family." 9606.ENSP00000448073,PRPF40B,892,Pre-mRNA-processing factor 40 homolog B; May be involved in pre-mRNA splicing. 9606.ENSP00000448083,TPCN1,888,Two pore calcium channel protein 1; Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane. 9606.ENSP00000448165,APAF1,1248,"Apoptotic protease-activating factor 1; Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis." 9606.ENSP00000448182,TBC1D15,691,"TBC1 domain family member 15; Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity)." 9606.ENSP00000448219,TAS2R38,333,"Taste receptor type 2 member 38; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)." 9606.ENSP00000448220,KRT4,520,"Keratin, type II cytoskeletal 4; Keratin 4; Belongs to the intermediate filament family." 9606.ENSP00000448228,SPATS2,545,Spermatogenesis-associated serine-rich protein 2; Spermatogenesis associated serine rich 2. 9606.ENSP00000448248,GLIPR1L2,344,GLIPR1-like protein 2; GLIPR1 like 2; Belongs to the CRISP family. 9606.ENSP00000448310,BEST2,509,Bestrophin-2; Forms calcium-sensitive chloride channels. Permeable to bicarbonate. 9606.ENSP00000448387,BRF1,677,"Transcription factor IIIB 90 kDa subunit; General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter." 9606.ENSP00000448419,IKZF4,585,Zinc finger protein Eos; DNA-binding protein that binds to the 5'GGGAATRCC-3' Ikaros- binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Essential for the inhibitory function of regulatory T-cells (Treg). Mediates FOXP3- mediated gene silencing in regulatory T-cells (Treg) via recruitment of corepressor CTBP1 (By similarity). 9606.ENSP00000448536,C12orf75,63,Overexpressed in colon carcinoma 1 protein; Chromosome 12 open reading frame 75. 9606.ENSP00000448580,SPIC,248,"Transcription factor Spi-C; Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a lymphoid-specific enhancer. Regulates VCAM1 gene expression (By similarity); Belongs to the ETS family." 9606.ENSP00000448598,C17orf49,192,Chromatin complexes subunit BAP18; Component of chromatin complexes such as the MLL1/MLL and NURF complexes. 9606.ENSP00000448665,DDIT3,192,"DNA damage-inducible transcript 3 protein; Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer- binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression [...] " 9606.ENSP00000448680,RITA1,293,"RBPJ-interacting and tubulin-associated protein 1; Tubulin-binding protein that acts as a negative regulator of Notch signaling pathway. Shuttles between the cytoplasm and the nucleus and mediates the nuclear export of RBPJ/RBPSUH, thereby preventing the interaction between RBPJ/RBPSUH and NICD product of Notch proteins (Notch intracellular domain), leading to down-regulate Notch-mediated transcription. May play a role in neurogenesis." 9606.ENSP00000448696,DTX3,350,"Probable E3 ubiquitin-protein ligase DTX3; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context (By similarity). Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity." 9606.ENSP00000448753,MYRFL,910,Myelin regulatory factor like. 9606.ENSP00000448785,METTL7A,244,Methyltransferase-like protein 7A; Probable methyltransferase. 9606.ENSP00000448811,OR6C68,312,Olfactory receptor 6C68; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000448841,NPIPA3,350,Nuclear pore complex interacting protein family member A3. 9606.ENSP00000448955,GAS2L3,694,GAS2-like protein 3; Cytoskeletal linker protein. May promote and stabilize the formation of the actin and microtubule network. Belongs to the GAS2 family. 9606.ENSP00000448998,CYP4F12,524,"Cytochrome P450 4F12; A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds, with preference for omega-2 position. Metabolizes (5Z,8Z,11Z,14Z)- eicosatetraenoic acid (arachidonate) toward 18-hydroxy arachidonate. Catalyzes the epoxidation of dou [...] " 9606.ENSP00000449002,OR11H12,326,Olfactory receptor 11H12; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000449026,RPL41,25,Ribosomal protein L41. 9606.ENSP00000449038,MAP3K12,892,"Mitogen-activated protein kinase kinase kinase 12; Part of a non-canonical MAPK signaling pathway. Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1. May be an activator of the JNK/SAPK pathway." 9606.ENSP00000449079,RDH12,316,"Retinol dehydrogenase 12; Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans- retinal. Shows very weak activity towards 13-cis-retinol. Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal. May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation. Has no dehydrogenase activity towards stero [...] " 9606.ENSP00000449089,DNM1L,749,"Dynamin-1-like protein; Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes. While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L [...] " 9606.ENSP00000449137,C19orf67,358,UPF0575 protein C19orf67; Chromosome 19 open reading frame 67; Belongs to the UPF0575 family. 9606.ENSP00000449241,AGAP2,1192,"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2; GTPase-activating protein (GAP) for ARF1 and ARF5, which also shows strong GTPase activity. Isoform 1 participates in the prevention of neuronal apoptosis by enhancing PI3 kinase activity. It aids the coupling of metabotropic glutamate receptor 1 (GRM1) to cytoplasmic PI3 kinase by interacting with Homer scaffolding proteins, and also seems to mediate anti-apoptotic effects of NGF by activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3 kinase but may protect cells from apoptosis by stimulating Akt. It also r [...] " 9606.ENSP00000449253,KCNC2,638,"Potassium voltage-gated channel subfamily C member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high- threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemi [...] " 9606.ENSP00000449270,COPZ1,185,"Coatomer subunit zeta-1; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins (By similarity). The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-disso [...] " 9606.ENSP00000449328,RPLP0,317,60S acidic ribosomal protein P0; Ribosomal protein P0 is the functional equivalent of E.coli protein L10. 9606.ENSP00000449381,MAPKAPK5,473,"MAP kinase-activated protein kinase 5; Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the 3' [...] " 9606.ENSP00000449386,SART3,963,"Squamous cell carcinoma antigen recognized by T-cells 3; U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation. Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non- canonical splice sites. May also function as a substrate-targeting factor [...] " 9606.ENSP00000449396,SMARCC2,1245,"SWI/SNF complex subunit SMARCC2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Can stimulate the ATPase activity of the catalytic subunit of these complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells. Belongs to the neural progenitors-s [...] " 9606.ENSP00000449404,KRT8,511,"Keratin, type II cytoskeletal 8; Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. Belongs to the intermediate filament family." 9606.ENSP00000449428,TWF1,357,"Twinfilin-1; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G- actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity)." 9606.ENSP00000449500,RNASEK,137,Ribonuclease kappa; Endoribonuclease which preferentially cleaves ApU and ApG phosphodiester bonds. Hydrolyzes UpU bonds at a lower rate. 9606.ENSP00000449535,ACSS3,686,"Acyl-CoA synthetase short-chain family member 3, mitochondrial; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids. Propionate is the preferred substrate. Can utilize acetate and butyrate with a much lower affinity (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000449544,H0YIJ7_HUMAN,124,Uncharacterized protein. 9606.ENSP00000449629,ANKS1B,1248,Ankyrin repeat and sterile alpha motif domain-containing protein 1B; Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells. Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing. 9606.ENSP00000449716,CMKLR1,373,"Chemokine-like receptor 1; Receptor for the chemoattractant adipokine chemerin/RARRES2 and for the omega-3 fatty acid derived molecule resolvin E1. Interaction with RARRES2 induces activation of intracellular signaling molecules, such as SKY, MAPK1/3 (ERK1/2), MAPK14/P38MAPK and PI3K leading to multifunctional effects, like, reduction of immune responses, enhancing of adipogenesis and angionesis. Resolvin E1 down- regulates cytokine production in macrophages by reducing the activation of MAPK1/3 (ERK1/2) and NF-kappa-B. Positively regulates adipogenesis and adipocyte metabolism. Acts a [...] " 9606.ENSP00000449751,FKBP11,201,Peptidyl-prolyl cis-trans isomerase FKBP11; PPIases accelerate the folding of proteins during protein synthesis. 9606.ENSP00000449756,SLC38A1,503,"Sodium-coupled neutral amino acid transporter 1; Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA." 9606.ENSP00000449770,H0YIN7_HUMAN,163,Peptidase_M24 domain-containing protein. 9606.ENSP00000449785,TMEM263,116,Transmembrane protein 263. 9606.ENSP00000449795,TRIAP1,76,"TP53-regulated inhibitor of apoptosis 1; Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter acros [...] " 9606.ENSP00000449884,MRPL42,142,Mitochondrial ribosomal protein L42; Belongs to the mitochondrion-specific ribosomal protein mL42 family. 9606.ENSP00000449960,CALCOCO1,691,"Calcium-binding and coiled-coil domain-containing protein 1; Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N- terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER- activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1-mediated transcriptional act [...] " 9606.ENSP00000449999,CLEC5A,188,C-type lectin domain family 5 member A; Functions as a positive regulator of osteoclastogenesis (By similarity). Cell surface receptor that signals via TYROBP. Regulates inflammatory responses (By similarity). 9606.ENSP00000450040,ASPG,573,"1-alkyl-2-acetylglycerophosphocholine esterase; Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities (By similarity). Can catalyze three types of transacylation reactions: (1) acyl transfer from 1-acyl-sn-glycero- 3-phosphocholine (1-acyl-GPC) to the sn-1(3) positions of glycerol and 2-acylglycerol (sn-1 to -1(3) transfer), (2) acyl transfer from 1-acyl- GPC to the sn-2 positions of 1-acyl-GPC, 1-acyl-sn-glycero-3- phosphoethanolamine (1-acyl-GPE), and other lysophospholipids (sn-1 to -2 transfer) and (3) acyl transfer from 2-acyl-GPC to the sn-1 po [...] " 9606.ENSP00000450085,H0YIS7_HUMAN,233,RNASEK-C17orf49 readthrough. 9606.ENSP00000450114,CLBA1,325,Uncharacterized protein CLBA1; Clathrin binding box of aftiphilin containing 1. 9606.ENSP00000450244,RASAL1,806,RasGAP-activating-like protein 1; Probable inhibitory regulator of the Ras-cyclic AMP pathway. Plays a role in dendrite formation by melanocytes. 9606.ENSP00000450281,H0YIV9_HUMAN,168,Uncharacterized protein. 9606.ENSP00000450310,GPR84,396,"G-protein coupled receptor 84; Receptor for medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists. Not activated by short-chain and long-chain saturated and unsaturated FFAs. Activation by medium-chain free fatty acid is coupled to a pertussis toxin sensitive G(i/o) protein pathway. May have important roles in processes from fatty acid metabolism to regulation of the immune system." 9606.ENSP00000450337,PPFIA2,1257,"Liprin-alpha-2; Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. In neuronal cells, is a scaffolding protein in the dendritic spines which acts as immobile postsynaptic post able to recruit KIF1A-driven dense core vesicles to dendritic spines. Belongs to the liprin family. Liprin-alpha subfamily." 9606.ENSP00000450353,F8VP50_HUMAN,261,Aldedh domain-containing protein. 9606.ENSP00000450385,MYL6B,208,Myosin light chain 6B; Regulatory light chain of myosin. Does not bind calcium. 9606.ENSP00000450436,ALDH6A1,535,"Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA; Belongs to the aldehyde dehydrogenase family." 9606.ENSP00000450444,HEATR4,1026,HEAT repeat containing 4. 9606.ENSP00000450456,RAX2,184,Retina and anterior neural fold homeobox protein 2; May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter. 9606.ENSP00000450461,CEP95,821,Centrosomal protein 95. 9606.ENSP00000450480,ATP10A,1499,Probable phospholipid-transporting ATPase VA; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. 9606.ENSP00000450482,BDKRB2,391,B2 bradykinin receptor; Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB2 sub-subfamily. 9606.ENSP00000450524,MAP1LC3B2,125,"Microtubule-associated proteins 1A/1B light chain 3 beta 2; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity); Belongs to the ATG8 family." 9606.ENSP00000450527,HOPX,112,"Homeodomain-only protein; Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF- dependent cardiac-specific genes and cardiac development. Prevents SRF- dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone protein [...] " 9606.ENSP00000450540,SERPINA3,423,"Alpha-1-antichymotrypsin His-Pro-less; Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2." 9606.ENSP00000450565,IL11RA,422,"Interleukin-11 receptor subunit alpha; Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number." 9606.ENSP00000450567,RPS6KL1,549,Ribosomal protein S6 kinase like 1. 9606.ENSP00000450580,RNASE12,147,Probable inactive ribonuclease-like protein 12; Does not exhibit any ribonuclease activity; Belongs to the pancreatic ribonuclease family. 9606.ENSP00000450584,ETFRF1,90,Electron transfer flavoprotein regulatory factor 1; Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB); Belongs to the complex I LYR family. 9606.ENSP00000450607,TIMELESS,1208,"Protein timeless homolog; Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication, DNA repair and in the regulation of the circadian clock. Required to stabilize replication forks during DNA replication by forming a complex with TIPIN: this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress. TIMELESS promotes [...] " 9606.ENSP00000450731,VTI1B,232,Vesicle transport through interaction with t-SNAREs homolog 1B; V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence; Belongs to the VTI1 family. 9606.ENSP00000450742,ZFYVE1,777,Zinc finger FYVE-type containing 1. 9606.ENSP00000450749,JKAMP,325,JNK1/MAPK8-associated membrane protein; May be a regulator of the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) luminal proteins through the recruitment of components of the proteasome and endoplasmic reticulum- associated degradation (ERAD) system (By similarity). 9606.ENSP00000450799,KHNYN,678,Protein KHNYN; KH and NYN domain containing. 9606.ENSP00000450832,SIPA1L1,1804,Signal-induced proliferation-associated 1-like protein 1; Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity). 9606.ENSP00000450842,TMEM30B,351,"Cell cycle control protein 50B; Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to th [...] " 9606.ENSP00000450853,POTEG,508,POTE ankyrin domain family member G. 9606.ENSP00000450856,G3V2T6_HUMAN,193,Uncharacterized protein. 9606.ENSP00000450857,STON2,920,Stonin-2; Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating; Belongs to the Stoned B family. 9606.ENSP00000450864,PPP4R3A,820,Serine/threonine-protein phosphatase 4 regulatory subunit 3A; Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on 'Ser-140' (gamma-H2AX) generated during DNA replication and required for DNA DSB repair. Belongs to the SMEK family. 9606.ENSP00000450870,H0YJ60_HUMAN,304,Uncharacterized protein. 9606.ENSP00000450873,ACYP1,129,Acylphosphatase-1; Its physiological role is not yet clear; Belongs to the acylphosphatase family. 9606.ENSP00000450895,FPGT-TNNI3K,949,FPGT-TNNI3K readthrough. 9606.ENSP00000450909,SLIRP,109,"SRA stem-loop-interacting RNA-binding protein, mitochondrial; RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation." 9606.ENSP00000450958,TMEM179,233,Transmembrane protein 179; Belongs to the TMEM179 family. 9606.ENSP00000450962,EMX2,252,"Homeobox protein EMX2; Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system." 9606.ENSP00000450969,ZBTB33,672,Transcriptional regulator Kaiso; Transcriptional regulator with bimodal DNA-binding specificity. Binds to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' and also binds to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. May contribute to the repression of target genes of the Wnt signaling pathway. May also activate transcription of a subset of target genes by the re [...] 9606.ENSP00000450984,G3V318_HUMAN,75,Uncharacterized protein. 9606.ENSP00000451000,ZBTB1,713,"Zinc finger and BTB domain-containing protein 1; Acts as a transcriptional repressor. Represses cAMP-responsive element (CRE)-mediated transcriptional activation. In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis. Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity)." 9606.ENSP00000451030,RGS6,490,"Regulator of G-protein signaling 6; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP- bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity." 9606.ENSP00000451040,PGF,170,"Placenta growth factor; Growth factor active in angiogenesis and endothelial cell growth, stimulating their proliferation and migration. It binds to the receptor FLT1/VEGFR-1. Isoform PlGF-2 binds NRP1/neuropilin-1 and NRP2/neuropilin-2 in a heparin-dependent manner. Also promotes cell tumor growth." 9606.ENSP00000451080,ERH,104,Enhancer of rudimentary homolog; May have a role in the cell cycle; Belongs to the E(R) family. 9606.ENSP00000451129,SNW1,571,"SNW domain-containing protein 1; Involved in pre-mRNA splicing as component of the spliceosome. Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, [...] " 9606.ENSP00000451145,PINX1-2,440,Uncharacterized protein; PIN2 interacting telomerase inhibitor 1. 9606.ENSP00000451162,CEP128,1094,Centrosomal protein 128. 9606.ENSP00000451172,SERPINA4,427,"Kallistatin; Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein. Belongs to the serpin family." 9606.ENSP00000451188,GSKIP,139,"GSK3B-interacting protein; A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets. The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively. Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B. During neurite outgrowth promotes neuron [...] " 9606.ENSP00000451206,NPC2,174,"NPC intracellular cholesterol transporter 2; Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. May bind and mobilize cholesterol that is associated with membranes. NPC2 binds cholesterol with a 1:1 stoichiometry. Can bind a variety of sterols, including lathosterol, desmosterol and the pl [...] " 9606.ENSP00000451211,NEDD1,667,Protein NEDD1; Required for mitosis progression. Promotes the nucleation of microtubules from the spindle. 9606.ENSP00000451223,PROX2,592,Prospero homeobox protein 2; Transcription regulator. Does not seem to be essential for embryonic development and postnatal survival (By similarity). Belongs to the Prospero homeodomain family. 9606.ENSP00000451261,UBE2J1,318,Ubiquitin-conjugating enzyme E2 J1; Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000451263,MAP3K9,1118,"Mitogen-activated protein kinase kinase kinase 9; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Plays also a role in mitochondrial [...] " 9606.ENSP00000451291,HNRNPC,306,"Heterogeneous nuclear ribonucleoproteins C1/C2; Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles. Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules. Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides. May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6-methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', fa [...] " 9606.ENSP00000451300,NUMB,651,"Protein numb homolog; Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage." 9606.ENSP00000451318,RNASE11,199,Ribonuclease A family member 11. 9606.ENSP00000451369,G3V3Q6_HUMAN,166,UBR-type domain-containing protein. 9606.ENSP00000451406,HSD17B6,317,"17-beta-hydroxysteroid dehydrogenase type 6; NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17- beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to [...] " 9606.ENSP00000451419,DIO2,273,"Type II iodothyronine deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into T3 (3,5,3'-triiodothyronine). Essential for providing the brain with appropriate levels of T3 during the critical period of development." 9606.ENSP00000451506,TCL1A,114,"T-cell leukemia/lymphoma protein 1A; Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival. Belongs to the TCL1 family." 9606.ENSP00000451560,ENSP00000451560,797,G_PROTEIN_RECEP_F1_2 domain-containing protein; Belongs to the tubulin family. 9606.ENSP00000451575,ASB2,635,Ankyrin repeat and SOCS box protein 2; Substrate-recognition component of a SCF-like ECS (Elongin- Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. [Isoform 2]: Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA. 9606.ENSP00000451583,DMAC2L,215,"ATP synthase subunit s, mitochondrial; Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway." 9606.ENSP00000451594,MOAP1,351,"Modulator of apoptosis 1; Required for death receptor-dependent apoptosis. When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation; Belongs to the PNMA family." 9606.ENSP00000451605,MC1R,317,"Melanocyte-stimulating hormone receptor; Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000451712,NDRG2,371,"Protein NDRG2; Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation." 9606.ENSP00000451792,G3V4G9_HUMAN,280,Ig-like domain-containing protein. 9606.ENSP00000451812,LIN52,116,Protein lin-52 homolog; Lin-52 DREAM MuvB core complex component. 9606.ENSP00000451818,SRP54,504,Signal recognition particle 54 kDa protein; Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). 9606.ENSP00000451828,AKT1,480,"RAC-alpha serine/threonine-protein kinase; AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the [...] " 9606.ENSP00000451866,SMIM13,91,Small integral membrane protein 13. 9606.ENSP00000451945,NKX1-2,310,"NK1 transcription factor-related protein 2; May function in cell specification, particularly in the CNS. Belongs to the NK-1 homeobox family." 9606.ENSP00000451962,PRAF2,178,PRA1 family protein 2; May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptotic role in cerulenin-induced neuroblastoma apoptosis. Belongs to the PRA1 family. 9606.ENSP00000451974,XRCC3,346,"DNA repair protein XRCC3; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the f [...] " 9606.ENSP00000451976,GSTZ1,217,"Maleylacetoacetate isomerase; Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3- diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid." 9606.ENSP00000451998,EML5,1977,"Echinoderm microtubule-associated protein-like 5; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic." 9606.ENSP00000452007,ISCA2,154,"Iron-sulfur cluster assembly 2 homolog, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly." 9606.ENSP00000452037,DNAL1,190,"Dynein light chain 1, axonemal; Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-rig [...] " 9606.ENSP00000452086,SLC35F4,485,Solute carrier family 35 member F4; Putative solute transporter. 9606.ENSP00000452120,ITGA7,1141,"Integrin alpha-7 70 kDa form; Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on lamini [...] " 9606.ENSP00000452123,SRSF5,272,Serine/arginine-rich splicing factor 5; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites; Belongs to the splicing factor SR family. 9606.ENSP00000452126,RGMA,458,"Repulsive guidance molecule A; Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA- ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG- PTK2/FAK1 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inacti [...] " 9606.ENSP00000452181,VIPAS39,493,"Spermatogenesis-defective protein 39 homolog; Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity. May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B. May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indir [...] " 9606.ENSP00000452245,RNASE4,147,Ribonuclease 4; This RNase has marked specificity towards the 3' side of uridine nucleotides; Belongs to the pancreatic ribonuclease family. 9606.ENSP00000452277,OR4C13,309,Olfactory receptor 4C13; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000452280,PTGR2,351,"Prostaglandin reductase 2; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation (By similarity); Belongs to the NADP-dependent oxidoreductase L4BD family." 9606.ENSP00000452347,H0YJW9_HUMAN,148,Uncharacterized protein. 9606.ENSP00000452398,DUXA,204,Double homeobox protein A; Putative transcription factor; Belongs to the paired homeobox family. 9606.ENSP00000452401,H0YJX3_HUMAN,145,Uncharacterized protein. 9606.ENSP00000452414,PTPN21,1174,Protein tyrosine phosphatase non-receptor type 21. 9606.ENSP00000452454,GTF2A1,376,Transcription initiation factor IIA alpha chain; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity; Belongs to the TFIIA subunit 1 family. 9606.ENSP00000452479,BCL2L2-PABPN1,333,Polyadenylate-binding protein 2; BCL2L2-PABPN1 readthrough. 9606.ENSP00000452521,NAA30,362,N-alpha-acetyltransferase 30; Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate. Belongs to the acetyltransferase family. MAK3 subfamily. 9606.ENSP00000452522,SOCS4,440,Suppressor of cytokine signaling 4; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. Substrate- recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits EGF signaling by mediating the degradation of the Tyr-phosphorylated EGF receptor/EGFR. 9606.ENSP00000452535,SAMD4A,718,Protein Smaug homolog 1; Acts as a translational repressor of SRE-containing messengers; Belongs to the SMAUG family. 9606.ENSP00000452549,E7ENQ6_HUMAN,273,YjeF N-terminal domain-containing protein. 9606.ENSP00000452552,ZFP37,645,Zinc finger protein 37 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000452634,TNFAIP2,654,Tumor necrosis factor alpha-induced protein 2; May play a role as a mediator of inflammation and angiogenesis. 9606.ENSP00000452662,IGKV2D-28,102,"Immunoglobulin kappa variable 2-28; V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] " 9606.ENSP00000452697,SEC11A,185,"SEC11 homolog A, signal peptidase complex subunit." 9606.ENSP00000452746,PSTPIP1,416,Proline-serine-threonine phosphatase-interacting protein 1; Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T- cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By similarity). [...] 9606.ENSP00000452747,IGKV2D-40,104,"Immunoglobulin kappa variable 2-40; V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] " 9606.ENSP00000452762,ETFA,333,"Electron transfer flavoprotein subunit alpha, mitochondrial; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism." 9606.ENSP00000452763,RPL28,170,60S ribosomal protein L28; Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL28 family. 9606.ENSP00000452773,CCDC32,194,Coiled-coil domain containing 32. 9606.ENSP00000452786,ITGB3,788,"Integrin beta-3; Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha- V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A- G-D-V in fibrinogen gamma chain. Following ac [...] " 9606.ENSP00000452793,GDPGP1,385,GDP-D-glucose phosphorylase 1; Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells. 9606.ENSP00000452796,PEAK1,1746,Inactive tyrosine-protein kinase PEAK1; Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics. Acts as a scaffold for mediating EGFR signaling. 9606.ENSP00000452871,TLE3,772,Transducin-like enhancer protein 3; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full- length TLE family members may be modulated by association with dominant-negative AES (By similarity). 9606.ENSP00000452877,ZNF592,1267,Zinc finger protein 592; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000452885,MINDY2,621,"Ubiquitin carboxyl-terminal hydrolase MINDY-2; Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins. Binds to polyubiquitin chains of different linkage types, including 'Lys-6', 'Lys-11', 'Lys- 29', 'Lys-33', 'Lys-48' and 'Lys-63'. May play a regulatory role at the level of protein turnover." 9606.ENSP00000452948,MAN2A2,1150,Alpha-mannosidase 2x; Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N- glycans; the final hydrolytic step in the N-glycan maturation pathway; Belongs to the glycosyl hydrolase 38 family. 9606.ENSP00000453012,UBE2Q2L,131,Putative ubiquitin-conjugating enzyme E2Q2-like protein; Ubiquitin conjugating enzyme E2 Q2 like; Belongs to the ubiquitin-conjugating enzyme family. 9606.ENSP00000453015,RNF111,1003,"E3 ubiquitin-protein ligase Arkadia; E3 ubiquitin-protein ligase. Required for mesoderm patterning during embryonic development (By similarity). Acts as an enhancer of the transcriptional responses of the SMAD2/SMAD3 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD7, inducing their proteasomal degradation and thereby enhancing the transcriptional activity of TGF-beta and BMP. In addition to enhance transcription of SMAD2/SMAD3 effectors, also regulates their turnover by mediating their ubiquitination and [...] " 9606.ENSP00000453019,TMEM250,139,Transmembrane protein 250; May play a role in cell proliferation by promoting progression into S phase. 9606.ENSP00000453045,ZNF280D-2,747,Zinc finger protein 280D. 9606.ENSP00000453076,GPR176,515,G-protein coupled receptor 176; Orphan receptor involved in normal circadian rhythm behavior. Acts through the G-protein subclass G(z)-alpha and has an agonist- independent basal activity to repress cAMP production. 9606.ENSP00000453089,H0YL77_HUMAN,283,Uncharacterized protein. 9606.ENSP00000453095,MEF2A,505,"Myocyte-specific enhancer factor 2A; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylate [...] " 9606.ENSP00000453129,GALK2,458,N-acetylgalactosamine kinase; Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates; Belongs to the GHMP kinase family. GalK subfamily. 9606.ENSP00000453153,BLID,108,BH3-like motif-containing cell death inducer; Functions as a proapoptotic molecule through the caspase- dependent mitochondrial pathway of cell death. 9606.ENSP00000453170,RGPD1,1748,RANBP2 like and GRIP domain containing 1. 9606.ENSP00000453177,TRIM69,500,E3 ubiquitin-protein ligase TRIM69; May have E3 ubiquitin-protein ligase activity. May play a role in apoptosis. 9606.ENSP00000453273,LRRC49,691,Leucine-rich repeat-containing protein 49; Leucine rich repeat containing 49. 9606.ENSP00000453293,APBA2,749,"Amyloid-beta A4 precursor protein-binding family A member 2; Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta." 9606.ENSP00000453302,ADAM8,824,Disintegrin and metalloproteinase domain-containing protein 8; Possible involvement in extravasation of leukocytes. 9606.ENSP00000453307,MEIS3,421,"Homeobox protein Meis3; Transcriptional regulator which directly modulates PDPK1 expression, thus promoting survival of pancreatic beta-cells. Also regulates expression of NDFIP1, BNIP3, and CCNG1." 9606.ENSP00000453399,TMEM185B,350,Transmembrane protein 185B. 9606.ENSP00000453502,ST20,79,Suppressor of tumorigenicity 20 protein; May act as a tumor suppressor. Promotes apoptosis of cancer cells. 9606.ENSP00000453508,TLN2,2542,"Talin-2; As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion. Recruits PIP5K1C to focal adhesion plaques and strongly activates its kinase activity (By similarity)." 9606.ENSP00000453562,BCL2L10,241,Bcl-2-like protein 10; Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK. 9606.ENSP00000453704,TGIF2LX,241,Homeobox protein TGIF2LX; May have a transcription role in testis. 9606.ENSP00000453750,TGIF2LY,185,Homeobox protein TGIF2LY; May have a transcription role in testis. May act as a competitor/regulator of TGIF2LX; Belongs to the TALE/TGIF homeobox family. 9606.ENSP00000453793,MEIS2,477,"Homeobox protein Meis2; Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in [...] " 9606.ENSP00000453801,WDR61,305,"WD repeat-containing protein 61, N-terminally processed; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for tran [...] " 9606.ENSP00000453854,SECISBP2L,1101,"Selenocysteine insertion sequence-binding protein 2-like; Binds SECIS (Sec insertion sequence) elements present on selenocysteine (Sec) protein mRNAs, but does not promote Sec incorporation into selenoproteins in vitro." 9606.ENSP00000453858,PAK6,681,Serine/threonine-protein kinase PAK 6; Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR- mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD. 9606.ENSP00000453940,CCDC175,793,Coiled-coil domain containing 175. 9606.ENSP00000453962,TMEM253,217,Transmembrane protein 253. 9606.ENSP00000453969,CCDC9B,534,Coiled-coil domain containing 9B. 9606.ENSP00000454012,UBAP1L,381,Ubiquitin-associated protein 1-like; Ubiquitin associated protein 1 like. 9606.ENSP00000454014,SHISA9,424,Protein shisa-9; Regulator of short-term neuronal synaptic plasticity in the dentate gyrus. Associates with AMPA receptors (ionotropic glutamate receptors) in synaptic spines and promotes AMPA receptor desensitization at excitatory synapses (By similarity); Belongs to the shisa family. SHISA9 subfamily. 9606.ENSP00000454021,TGIF2-RAB5IF,155,Respirasome Complex Assembly Factor 1; Acts as an assembly factor for mitochondrial respiratory complexes. 9606.ENSP00000454038,GMPR2,427,"GMP reductase 2; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. Plays a role in modulating cellular differentiation. Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily." 9606.ENSP00000454062,NRL,237,"Neural retina-specific leucine zipper protein; Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B. Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3. Binds in a sequence-specific manner to the rhodopsin promoter." 9606.ENSP00000454071,LDLR,860,"Low-density lipoprotein receptor; Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. (Microbial infection) Acts as a receptor for Vesicular stomatitis virus; Belongs to the LDLR family." 9606.ENSP00000454153,C5orf63,138,Glutaredoxin-like protein C5orf63; Chromosome 5 open reading frame 63. 9606.ENSP00000454229,CLN3,438,"Battenin; Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes." 9606.ENSP00000454264,NUB1,639,"NEDD8 ultimate buster 1; Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2." 9606.ENSP00000454268,MINAR2,190,Major intrinsically disordered NOTCH2-binding receptor 1-like; Membrane integral NOTCH2 associated receptor 2. 9606.ENSP00000454303,AP5B1,878,"AP-5 complex subunit beta-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport." 9606.ENSP00000454322,GOLGA8F,636,Golgin A8 family member F; Belongs to the GOLGA8 family. 9606.ENSP00000454340,MPV17L-2,118,Mpv17-like protein; Belongs to the peroxisomal membrane protein PXMP2/4 family. 9606.ENSP00000454341,ARPP19,131,"cAMP-regulated phosphoprotein 19; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression. Belongs to the endosulfine family." 9606.ENSP00000454370,SMKR1,65,Small lysine rich protein 1. 9606.ENSP00000454380,ANTKMT,235,"Adenine nucleotide translocase lysine N-methyltransferase; Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration. Probably also trimethylates ANT1/SLC25A4." 9606.ENSP00000454386,H3BMH7_HUMAN,237,Uncharacterized protein. 9606.ENSP00000454404,TMEM170A,144,"Transmembrane protein 170A; Acts as a regulator of endoplasmic reticulum (ER) and nuclear envelope (NE) morphogenesis. Affects the ratio between tubular ER and ER sheets by promoting sheet formation at the expense of tubules. Influences NE expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins. Belongs to the TMEM170 family." 9606.ENSP00000454407,GOLGA6L2,909,Golgin subfamily A member 6-like protein 2; Golgin A6 family like 2; Belongs to the GOLGA6 family. 9606.ENSP00000454437,H3BML4_HUMAN,177,Ig-like domain-containing protein. 9606.ENSP00000454468,TMEM249,235,Transmembrane protein 249. 9606.ENSP00000454500,H3BMQ9_HUMAN,156,Uncharacterized protein. 9606.ENSP00000454545,RBM15B,890,"Putative RNA-binding protein 15B; RNA-binding protein that acts as a key regulator of N6- methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA. Associated component of the WMM complex, a complex that mediates N6- methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex. Involved in random X inactiv [...] " 9606.ENSP00000454561,C8orf88,117,Uncharacterized protein C8orf88; Chromosome 8 open reading frame 88. 9606.ENSP00000454562,DNASE1L2,299,Deoxyribonuclease-1-like 2; Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells. 9606.ENSP00000454623,ITGAX,1169,Integrin alpha-X; Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. 9606.ENSP00000454646,SLC38A7,462,"Putative sodium-coupled neutral amino acid transporter 7; Mediates sodium-dependent transport of amino acids, preferentially L-glutamine; Belongs to the amino acid/polyamine transporter 2 family." 9606.ENSP00000454746,H3BN98_HUMAN,237,Uncharacterized protein. 9606.ENSP00000454770,ANKRD66,251,Ankyrin repeat domain 66. 9606.ENSP00000454786,H3BNC9_HUMAN,584,Uncharacterized protein. 9606.ENSP00000454804,ASIP,132,"Agouti-signaling protein; Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes." 9606.ENSP00000454836,TBL3,808,Transducin beta like 3. 9606.ENSP00000454852,SNUPN,360,Snurportin-1; Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. Belongs to the snurportin family. 9606.ENSP00000454903,C3orf84,204,Uncharacterized protein C3orf84; Chromosome 3 open reading frame 84. 9606.ENSP00000454913,ARMH2,230,Armadillo-like helical domain-containing protein 2; Armadillo like helical domain containing 2. 9606.ENSP00000454919,RNF112,631,"RING finger protein 112; E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins. Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-ind [...] " 9606.ENSP00000454926,MOSMO,167,Modulator of smoothened protein; Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation. 9606.ENSP00000454945,TMEM204,226,Transmembrane protein 204; Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens. 9606.ENSP00000454973,SCAPER,1400,S phase cyclin A-associated protein in the endoplasmic reticulum; CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm. 9606.ENSP00000455026,RPUSD1,312,RNA pseudouridine synthase domain containing 1; Belongs to the pseudouridine synthase RluA family. 9606.ENSP00000455041,TMC7,758,Transmembrane channel-like protein 7; Probable ion channel. 9606.ENSP00000455047,H3BNX3_HUMAN,289,Pyr_redox_2 domain-containing protein. 9606.ENSP00000455064,SLC7A6,515,"Y+L amino acid transporter 2; Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in mono [...] " 9606.ENSP00000455068,METRN,293,Meteorin; Involved in both glial cell differentiation and axonal network formation during neurogenesis. Promotes astrocyte differentiation and transforms cerebellar astrocytes into radial glia. Also induces axonal extension in small and intermediate neurons of sensory ganglia by activating nearby satellite glia (By similarity). 9606.ENSP00000455079,C16orf95,239,Uncharacterized protein C16orf95; Chromosome 16 open reading frame 95. 9606.ENSP00000455099,TMEM88B,163,Transmembrane protein 88B. 9606.ENSP00000455106,BOP1,746,"Ribosome biogenesis protein BOP1; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; Belongs to the WD repeat BOP1/ERB1 family." 9606.ENSP00000455114,HEXA,540,"Beta-hexosaminidase subunit alpha; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity; Belongs to the glycosyl hydrolase 20 family." 9606.ENSP00000455132,TP53TG3C,124,TP53 target 3C. 9606.ENSP00000455145,ENSP00000455145,60,Novel protein. 9606.ENSP00000455169,NETO2,525,"Neuropilin and tolloid-like protein 2; Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission (By similarity)." 9606.ENSP00000455215,ADGRG1,693,"Adhesion G-protein coupled receptor G1; Receptor involved in cell adhesion and probably in cell-cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination (By similarity). Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12. Plays a role in the maintenance of hematopoie [...] " 9606.ENSP00000455229,DUS2,493,"tRNA-dihydrouridine(20) synthase [NAD(P)+]-like; Dihydrouridine synthase. Catalyzes the NADPH-dependent synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Negatively regulates the activation of EIF2AK2/PKR." 9606.ENSP00000455265,TAF1C,869,"TATA box-binding protein-associated factor RNA polymerase I subunit C; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via [...] " 9606.ENSP00000455298,GOLGA8S,625,Golgin A8 family member S; Belongs to the GOLGA8 family. 9606.ENSP00000455308,ZNF598,904,"E3 ubiquitin-protein ligase ZNF598; E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation. Required for ribosomes to terminally stall during translation of poly(A) sequences by mediating monoubiquitination of 40S ribosomal protein RPS10/eS10, RPS20/uS10 and RPS3/uS3. Stalling precludes synthesis of a long poly-lysine tail and initiates the RQC pathway to degrade the potentially detrimental aberrant nascent polypeptide. Also acts as a component of the 4EHP-GYF2 complex, a multipr [...] " 9606.ENSP00000455385,MKRN2OS,223,MKRN2 opposite strand. 9606.ENSP00000455426,ZNF423,1284,"Zinc finger protein 423; Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmenta [...] " 9606.ENSP00000455434,RD3L,198,Protein RD3-like; Retinal degeneration 3 like. 9606.ENSP00000455442,NUPR2,97,"Nuclear protein 2; Acts as a transcriptional repressor by inhibiting gene expression at the NUPR1 promoter in a p53/TP53-dependent manner in cancer cells. Involved in the G1 cell cycle arrest, and in a decrease in cell viability and cell proliferation. Plays a role as a negative regulator of the protumoral factor NUPR1." 9606.ENSP00000455444,TCF24,167,Transcription factor 24; Putative transcription factor. 9606.ENSP00000455469,GJE1,205,"Putative gap junction epsilon-1 protein; Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions. Belongs to the connexin family. Beta-type (group I) subfamily." 9606.ENSP00000455507,OBSCN,8923,"Obscurin; Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle. Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate ( [...] " 9606.ENSP00000455547,H3BQ06_HUMAN,376,Rab-GAP TBC domain-containing protein. 9606.ENSP00000455561,AMDHD2-2,152,Uncharacterized protein. 9606.ENSP00000455566,DOK4,365,Docking protein 4; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK4 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway (By similarity). Putative link with downstream effectors of RET in neuronal differentiation. May be involved in the regulation of the immune response induced by T-cells. 9606.ENSP00000455585,ZNF853,659,Zinc finger protein 853. 9606.ENSP00000455596,TP53TG3D,124,TP53 target 3D. 9606.ENSP00000455607,PHKG2,406,"Phosphorylase b kinase gamma catalytic chain, liver/testis isoform; Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family." 9606.ENSP00000455643,ST20-MTHFS,179,5-formyltetrahydrofolate cyclo-ligase; ST20-MTHFS readthrough; Belongs to the 5-formyltetrahydrofolate cyclo-ligase family. 9606.ENSP00000455698,STMND1,276,Stathmin domain containing 1. 9606.ENSP00000455711,SCRT1,348,"Transcriptional repressor scratch 1; Transcriptional repressor that binds E-box motif CAGGTG. Can modulate the action of basic helix-loop-helix (bHLH) transcription factors, critical for neuronal differentiation." 9606.ENSP00000455716,OST4,37,"Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the en [...] " 9606.ENSP00000455771,TMSB15B,45,Thymosin beta 15B. 9606.ENSP00000455785,KCTD13,329,"BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission. The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity). Belongs to the BACURD family." 9606.ENSP00000455791,DYNLRB2,125,Dynein light chain roadblock-type 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. 9606.ENSP00000455811,LY6L,138,Lymphocyte antigen 6 family member L. 9606.ENSP00000455813,DDX19B,484,ATP-dependent RNA helicase DDX19B; DEAD-box helicase 19B. 9606.ENSP00000455826,GOLGA8T,631,Golgin A8 family member T; Belongs to the GOLGA8 family. 9606.ENSP00000455854,TEX38,206,Testis-expressed protein 38; Testis expressed 38. 9606.ENSP00000455897,MRC1,1456,Macrophage mannose receptor 1; Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains. (Microbial infection) Acts as a receptor for Dengue virus envelope protein E. 9606.ENSP00000455906,MUC22,1773,Mucin-22; Mucin 22. 9606.ENSP00000455971,FAM229A,127,Protein FAM229A; Family with sequence similarity 229 member A; Belongs to the FAM229 family. 9606.ENSP00000456019,SQOR,450,"Sulfide:quinone oxidoreductase, mitochondrial; Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro). Belongs to the SQRD family." 9606.ENSP00000456026,SMLR1,107,Small leucine rich protein 1. 9606.ENSP00000456206,TUBB8,444,"Tubulin beta-8 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB8 has a key role in meiotic spindle assembly and oocyte maturation ; Belongs to the tubulin family." 9606.ENSP00000456218,EARS2,534,"Probable glutamate--tRNA ligase, mitochondrial; Catalyzes the attachment of glutamate to tRNA(Glu) in a two- step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu)." 9606.ENSP00000456226,PRRT2,394,"Proline-rich transmembrane protein 2; As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation." 9606.ENSP00000456242,ADAL,355,"Adenosine deaminase-like protein; Catalyzes the hydrolysis of the free cytosolic methylated adenosine nucleotide N(6)-methyl-AMP (N6-mAMP) to produce inositol monophosphate (IMP) and methylamine. Is required for the catabolism of cytosolic N6-mAMP, which is derived from the degradation of mRNA containing N6-methylated adenine (m6A). Catalyzes the removal of different alkyl groups not only from N6-substituted purine or 2-aminopurine nucleoside monophosphates but also from O6-substituted compounds in vitro ; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deami [...] " 9606.ENSP00000456333,TMEM210,147,Transmembrane protein 210. 9606.ENSP00000456336,H3BRN7_HUMAN,92,Uncharacterized protein. 9606.ENSP00000456337,C15orf65,121,Uncharacterized protein C15orf65; Chromosome 15 open reading frame 65. 9606.ENSP00000456340,DET1,561,"DET1 homolog; Component of the E3 ubiquitin ligase DCX DET1-COP1 complex, which is required for ubiquitination and subsequent degradation of target proteins. The complex is involved in JUN ubiquitination and degradation." 9606.ENSP00000456348,PARP6,630,Protein mono-ADP-ribosyltransferase PARP6; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins. 9606.ENSP00000456401,GOLGA8J,632,Golgin A8 family member J; Belongs to the GOLGA8 family. 9606.ENSP00000456436,CNN2,330,"Calponin-2; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity." 9606.ENSP00000456477,C15orf41,287,Protein C15orf41; Plays a role in erythroid cell differentiation. 9606.ENSP00000456480,SNX29,813,Sorting nexin 29. 9606.ENSP00000456500,ZNF469,3953,Zinc finger protein 469; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000456543,CCDC187,965,Coiled-coil domain containing 187. 9606.ENSP00000456548,ELFN1,828,Protein ELFN1; Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. 9606.ENSP00000456566,RNF151,245,RING finger protein 151; May be involved in acrosome formation of spermatids. 9606.ENSP00000456594,TMEM178B,294,Transmembrane protein 178B. 9606.ENSP00000456609,STRA6,706,"Receptor for retinol uptake STRA6; Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1. Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A. Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and it [...] " 9606.ENSP00000456743,KLHL36,616,Kelch-like protein 36; Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000456782,ZDHHC7,345,"Palmitoyltransferase ZDHHC7; Palmitoyltransferase with broad specificity. Palmitoylates JAM3. Palmitoylates SNAP25 and DLG4/PSD95 (By similarity). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane and their function in rapid intracellular signaling upon binding of sex hormones. May play a role in follicle stimulation hormone (FSH) activation of testicular Sertoli cells (By similarity)." 9606.ENSP00000456850,THEGL,465,Testicular haploid expressed gene protein-like; Theg spermatid protein like. 9606.ENSP00000456851,BLOC1S6,177,"Biogenesis of lysosome-related organelles complex 1 subunit 6; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particular [...] " 9606.ENSP00000456861,TBC1D3G,549,TBC1 domain family member 3G; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000456868,LOC100509620,347,Uncharacterized protein; Belongs to the MIP/aquaporin (TC 1.A.8) family. 9606.ENSP00000456894,GOLGA8H,632,Golgin A8 family member H; Belongs to the GOLGA8 family. 9606.ENSP00000456908,CTU2,586,"Cytoplasmic tRNA 2-thiolation protein 2; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position." 9606.ENSP00000456920,WFDC1,220,WAP four-disulfide core domain protein 1; Has growth inhibitory activity. 9606.ENSP00000456927,GOLGA8M,632,Golgin A8 family member M. 9606.ENSP00000456953,POTEB2,544,POTE ankyrin domain family member B2; Belongs to the POTE family. 9606.ENSP00000456974,NPW,165,Neuropeptide W-23; Plays a regulatory role in the organization of neuroendocrine signals accessing the anterior pituitary gland. Stimulates water drinking and food intake. May play a role in the hypothalamic response to stress (By similarity). NPW23 activates GPR7 and GPR8 more efficiently than NPW30. 9606.ENSP00000457016,INO80E,244,"INO80 complex subunit E; Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair." 9606.ENSP00000457044,ZFP1,407,Zinc finger protein 1 homolog; May be involved in transcriptional regulation. 9606.ENSP00000457111,IRS4-2,37,Insulin receptor substrate 4. 9606.ENSP00000457161,TEX46,121,Testis-expressed protein 46; Testis expressed 46. 9606.ENSP00000457168,SZT2,3375,"KICSTOR complex protein SZT2; As part of the KICSTOR complex functions in the amino acid- sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by gluc [...] " 9606.ENSP00000457180,HAPLN3,422,Hyaluronan and proteoglycan link protein 3; May function in hyaluronic acid binding. 9606.ENSP00000457205,INSYN1,293,"Inhibitory synaptic factor 1; Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code." 9606.ENSP00000457206,SPSB3,355,SPRY domain-containing SOCS box protein 3; May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000457230,WWOX,414,"WW domain-containing oxidoreductase; Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm." 9606.ENSP00000457241,TSNAXIP1,712,Translin-associated factor X-interacting protein 1; Possible role in spermatogenesis. 9606.ENSP00000457243,NOL3,270,Nucleolar protein 3; [Isoform 1]: May be involved in RNA splicing. 9606.ENSP00000457258,OGFOD1,542,"Prolyl 3-hydroxylase OGFOD1; Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro- 62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation; Belongs to the TPA1 family." 9606.ENSP00000457274,ZNF747,330,KRAB domain-containing protein ZNF747; Zinc finger protein 747. 9606.ENSP00000457353,EME2,379,Probable crossover junction endonuclease EME2; Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures. 9606.ENSP00000457380,CEMP1,247,Cementoblastoma-derived protein 1; May play a role in development of the periodontium which surrounds and supports the teeth by promoting the differentiation of multi-potent cells from the periodontal ligament into cementoblasts to form the cementum. Binds hydroxyapatite and may promote the biomineralization of the cementum. Also promotes cell proliferation. 9606.ENSP00000457386,SMIM1,78,Small integral membrane protein 1; Regulator of red blood cell formation. Belongs to the SMIM1 family. 9606.ENSP00000457408,KIAA0513,411,Uncharacterized protein KIAA0513; KIAA0513. 9606.ENSP00000457411,USP10,802,"Ubiquitin carboxyl-terminal hydrolase 10; Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN [...] " 9606.ENSP00000457421,PECAM1,738,Platelet endothelial cell adhesion molecule; Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions. Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes. Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions. Heterophilic interaction with CD177 plays a role in transendothelial migration of neutr [...] 9606.ENSP00000457492,TMEM219,240,"Insulin-like growth factor-binding protein 3 receptor; Cell death receptor specific for IGFBP3, may mediate caspase- 8-dependent apoptosis upon ligand binding." 9606.ENSP00000457511,CCDC179,68,Coiled-coil domain containing 179. 9606.ENSP00000457513,COX4I1,169,"Cytochrome c oxidase subunit 4 isoform 1, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives tran [...] " 9606.ENSP00000457539,APOBR,1097,"Apolipoprotein B receptor; Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macr [...] " 9606.ENSP00000457625,DBNDD1,278,Dysbindin domain containing 1. 9606.ENSP00000457654,H3BUI4_HUMAN,141,Uncharacterized protein. 9606.ENSP00000457689,POTEB,544,POTE ankyrin domain family member B. 9606.ENSP00000457701,LOC730098,87,"HCG2040265, isoform CRA_a." 9606.ENSP00000457703,UBL7,380,Ubiquitin-like protein 7; Ubiquitin like 7. 9606.ENSP00000457704,ENSP00000457704,358,Uncharacterized protein. 9606.ENSP00000457715,ZNF865,1059,Zinc finger protein 865; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000457718,H3BUN2_HUMAN,164,Uncharacterized protein. 9606.ENSP00000457723,RNPS1,305,RNA-binding protein with serine-rich domain 1; Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the E [...] 9606.ENSP00000457728,TRAPPC2L,146,Trafficking protein particle complex subunit 2-like protein; Plays a role in vesicular transport from endoplasmic reticulum to Golgi. 9606.ENSP00000457733,SLC25A24,477,"Calcium-binding mitochondrial carrier protein SCaMC-1; Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress-induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mitoc [...] " 9606.ENSP00000457748,RGSL1,1076,Regulator of G protein signaling like 1. 9606.ENSP00000457788,MAN2C1,1057,"Alpha-mannosidase 2C1; Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm; Belongs to the glycosyl hydrolase 38 family." 9606.ENSP00000457807,KCNJ18,433,"Inward rectifier potassium channel 18; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily." 9606.ENSP00000457810,CENPT,561,"Centromere protein T; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome-associated complex that binds specifically to histone H3- containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and [...] " 9606.ENSP00000457870,MLST8,326,"Target of rapamycin complex subunit LST8; Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-r [...] " 9606.ENSP00000457904,GOLGA8Q,632,Golgin A8 family member Q; Belongs to the GOLGA8 family. 9606.ENSP00000457962,TGFBR3L,316,Transforming growth factor-beta receptor type 3-like protein; Transforming growth factor beta receptor 3 like. 9606.ENSP00000457991,PHLPP2,1323,"PH domain leucine-rich repeat-containing protein phosphatase 2; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apopto [...] " 9606.ENSP00000458018,HSPB9,159,Heat shock protein family B member 9. 9606.ENSP00000458021,PMF1-BGLAP,142,PMF1-BGLAP readthrough. 9606.ENSP00000458065,DUX4,424,Double homeobox protein 4-like protein 2; May be involved in transcriptional regulation. 9606.ENSP00000458075,BOLA2-SMG1P6,249,BOLA2-SMG1P6 readthrough. 9606.ENSP00000458130,GOLGA8G,648,Golgin A8 family member G. 9606.ENSP00000458162,ACTG1,375,"Actin, cytoplasmic 2, N-terminally processed; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells." 9606.ENSP00000458290,METTL4,472,"N(6)-adenine-specific DNA methyltransferase METTL4; N(6)-adenine-specific DNA methyltransferase that mediates methylation of DNA on the 6th position of adenine (N(6)- methyladenosine) and is required to regulate Polycomb silencing. N(6)- methyladenosine deposition by METTL4 triggers ubiquitination and degradation of sensor proteins ASXL1 and MPND, leading to inactivation of the PR-DUB complex and subsequent preservation of Polycomb silencing; Belongs to the MT-A70-like family." 9606.ENSP00000458316,INCA1,236,"Protein INCA1; Binds to CDK2-bound cyclins and inhibits the kinase activity of CDK2; binding to cyclins is critical for its function as CDK inhibitor. Inhibits cell growth and cell proliferation and may play a role in cell cycle control (By similarity). Required for ING5-mediated regulation of S-phase progression, enhancement of Fas-induced apoptosis and inhibition of cell growth (By similarity); Belongs to the INCA family." 9606.ENSP00000458355,DNAH2,4427,"Dynein heavy chain 2, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity)." 9606.ENSP00000458537,CTRL,264,Chymotrypsin-like protease CTRL-1; Chymotrypsin like; Belongs to the peptidase S1 family. 9606.ENSP00000458570,PCDHGA4,962,Protocadherin gamma-A4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000458585,MMP12,470,"Macrophage metalloelastase; May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3; Belongs to the peptidase M10A family." 9606.ENSP00000458663,CIC,1608,"Protein capicua homolog; Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development." 9606.ENSP00000458762,NMRAL1,299,"NmrA-like family domain-containing protein 1; Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsecuently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer b [...] " 9606.ENSP00000458770,NDUFAB1,156,"Acyl carrier protein, mitochondrial; Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain." 9606.ENSP00000458772,C19orf84,186,Uncharacterized protein C19orf84; Chromosome 19 open reading frame 84. 9606.ENSP00000458791,GPR139,353,Probable G-protein coupled receptor 139; Orphan receptor. Seems to act through a G(q/11)-mediated pathway. 9606.ENSP00000458879,ZSCAN10,780,"Zinc finger and SCAN domain-containing protein 10; Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4." 9606.ENSP00000458954,NUP88,741,Nuclear pore complex protein Nup88; Component of nuclear pore complex. 9606.ENSP00000458977,DPEP2,486,Dipeptidase 2; Probable metalloprotease which hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4). 9606.ENSP00000458986,CLUH,1309,"Clustered mitochondria protein homolog; mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear- encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis; Belongs to the CLU family." 9606.ENSP00000459019,PLSCR3,295,"Phospholipid scramblase 3; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. Seems to play a role in apoptosis, through translocation of cardiolipin from the inner to the outer mitochondrial membrane which promotes BID recruitment and enhances tBid-induced mit [...] " 9606.ENSP00000459028,OR1D5,312,Olfactory receptor 1D5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000459043,BICDL2,508,BICD family like cargo adaptor 2. 9606.ENSP00000459216,ZNF578,590,Zinc finger protein 578; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000459439,GFY,518,Golgi-associated olfactory signaling regulator; Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity). 9606.ENSP00000459451,ACSM2A,577,"Acyl-coenzyme A synthetase ACSM2A, mitochondrial; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000459533,LITAF,161,"Lipopolysaccharide-induced tumor necrosis factor-alpha factor; Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation. Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps downregulate downstream signaling cascades. Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes. Probably plays a role in regulating protein degradation via its interaction with NEDD4. May also contribute to the regulation of gene expression in the nucleus. Binds DNA (in vitro) and may play a s [...] " 9606.ENSP00000459551,LRRC37A2,1700,Leucine-rich repeat-containing protein 37A2; Leucine rich repeat containing 37 member A2. 9606.ENSP00000459566,ZNF75A,296,Zinc finger protein 75A; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000459580,SPATA22,363,Spermatogenesis-associated protein 22; Meiosis-specific protein required for homologous recombination in meiosis I. 9606.ENSP00000459615,SRGAP2,1071,"SLIT-ROBO Rho GTPase-activating protein 2; RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral c [...] " 9606.ENSP00000459626,MRTFB,1099,Myocardin-related transcription factor B; Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation. 9606.ENSP00000459799,TNK1,666,Non-receptor tyrosine-protein kinase TNK1; Involved in negative regulation of cell growth. Has tumor suppressor properties. Plays a negative regulatory role in the Ras-MAPK pathway. May function in signaling pathways utilized broadly during fetal development and more selectively in adult tissues and in cells of the lymphohematopoietic system. Could specifically be involved in phospholipid signal transduction; Belongs to the protein kinase superfamily. Tyr protein kinase family. 9606.ENSP00000459943,ANKFY1,1211,Rabankyrin-5; Proposed effector of Rab5. Binds to phosphatidylinositol 3- phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosyn [...] 9606.ENSP00000459962,TRPV1,839,"Transient receptor potential cation channel subfamily V member 1; Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibits [...] " 9606.ENSP00000460070,GTF2I,998,"General transcription factor II-I; Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for [...] " 9606.ENSP00000460236,SPON1,807,Spondin-1; Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell. 9606.ENSP00000460274,PCDHGA9,932,Protocadherin gamma-A9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000460348,PRPF8,2335,"Pre-mRNA-processing-splicing factor 8; Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both t [...] " 9606.ENSP00000460371,OCLM,44,Oculomedin. 9606.ENSP00000460380,USP6,1406,"Ubiquitin carboxyl-terminal hydrolase 6; Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation." 9606.ENSP00000460437,PCTP,219,Phosphatidylcholine transfer protein; Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule. 9606.ENSP00000460475,NLRP1,1473,"NACHT, LRR and PYD domains-containing protein 1; As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulat [...] " 9606.ENSP00000460539,ARL17B,181,ADP-ribosylation factor-like protein 17; ADP ribosylation factor like GTPase 17B. 9606.ENSP00000460547,ZFP90,636,"Zinc finger protein 90 homolog; Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes." 9606.ENSP00000460602,ERVMER34-1,563,"Endogenous retroviral envelope protein HEMO, secreted form; Endogenous envelope proteins originate from retroviral envelope proteins, which mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution." 9606.ENSP00000460665,CCER2,266,Coiled-coil glutamate rich protein 2. 9606.ENSP00000460683,CTDNEP1,244,CTD nuclear envelope phosphatase 1; Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and [...] 9606.ENSP00000460823,TOM1L1,476,"TOM1-like protein 1; Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions (By similarity). Belongs to the TOM1 family." 9606.ENSP00000460825,WSCD1,575,WSC domain containing 1. 9606.ENSP00000460871,RSL1D1,490,Ribosomal L1 domain-containing protein 1; Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage; Belongs to the universal ribosomal protein uL1 family. Highly divergent. 9606.ENSP00000460885,CORO7-PAM16,1048,Coronin; CORO7-PAM16 readthrough; Belongs to the WD repeat coronin family. 9606.ENSP00000460964,ATPAF1,351,ATP synthase mitochondrial F1 complex assembly factor 1; May play an essential role for the assembly of the mitochondrial F1-F0 complex. 9606.ENSP00000460971,ZP2,745,"Processed zona pellucida sperm-binding protein 2; Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor." 9606.ENSP00000461032,ZNF594,807,Zinc finger protein 594; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000461269,SCIMP,145,"SLP adapter and CSK-interacting membrane protein; Lipid tetraspanin-associated transmembrane adapter/mediator that acts as a scaffold for Src-family kinases and other signaling proteins in immune cells. It is involved in major histocompatibility complex class II (MHC-II) signaling transduction in B cells, where it is required in generating the calcium response and enhancing ERK activity upon MHC-II stimulation. In dendritic cells, it is involved in sustaining CLEC7A/DECTIN1 signaling after CLEC7A activation by fungal beta-glucans (By similarity). It also acts as an agonist-inducible si [...] " 9606.ENSP00000461295,I3L4J1_HUMAN,428,Uncharacterized protein; Belongs to the AAA ATPase family. 9606.ENSP00000461324,SLC25A10-2,442,"Mitochondrial dicarboxylate carrier; Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane." 9606.ENSP00000461382,SLC43A2,573,"Large neutral amino acids transporter small subunit 4; Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids." 9606.ENSP00000461388,OVCA2,227,OVCA2 serine hydrolase domain containing; Belongs to the LovG family. 9606.ENSP00000461425,ZNF66,573,Putative zinc finger protein 66; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000461433,MCRIP1,118,"Mapk-regulated corepressor-interacting protein 1; The phosphorylation status of MCRIP1 functions as a molecular switch to regulate epithelial-mesenchymal transition. Unphosphorylated MCRIP1 binds to and inhibits the transcriptional corepressor CTBP(s). When phosphorylated by MAPK/ERK, MCRIP1 releases CTBP(s) resulting in transcriptional silencing of the E-cadherin gene and induction of epithelial-mesenchymal transition." 9606.ENSP00000461784,GOSR2,257,Golgi SNAP receptor complex member 2; Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network; Belongs to the GOSR2 family. 9606.ENSP00000461785,RAB40B,278,Ras-related protein Rab-40B; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000461830,FOPNL,198,LisH domain-containing protein FOPNL; Involved in the biogenesis of cilia. Required for the recruitment of PLK1 to centrosomes and S phase progression. 9606.ENSP00000461862,PCDHGB3,929,Protocadherin gamma-B3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000461865,ENSP00000461865,44,Novel protein. 9606.ENSP00000461879,POLR2A,566,DNA-directed RNA polymerase II subunit RPB1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cl [...] 9606.ENSP00000461930,MRPS21,87,Mitochondrial ribosomal protein S21; Belongs to the bacterial ribosomal protein bS21 family. 9606.ENSP00000461945,RAB31,195,"Ras-related protein Rab-31; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Pl [...] " 9606.ENSP00000461947,CD226,336,"CD226 antigen; Involved in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T- lymphocyte (CTL) and NK cell. Cell surface receptor for NECTIN2. Upon ligand binding, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Competes with PVRIG for NECTIN2-binding." 9606.ENSP00000462046,PIRT,137,"Phosphoinositide-interacting protein; Regulatory subunit of TRPV1, a molecular sensor of noxious heat and capsaicin. Positively regulates TRPV1 channel activity via phosphatidylinositol 4,5-bisphosphate (PIP2). Binds various phosphoinositide, including phosphatidylinositol 4,5-bisphosphate (PIP2), but not phosphatidylinositol (PI) (By similarity)." 9606.ENSP00000462054,ZFP92,416,Zinc finger protein 92 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000462099,RASSF5,418,"Ras association domain-containing protein 5; Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T-cell receptor or chemokine stimulation to integrin activation. Isoform 2 stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras [...] " 9606.ENSP00000462106,SMIM21,101,Small integral membrane protein 21. 9606.ENSP00000462116,SAP30BP,308,SAP30-binding protein; Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes; Belongs to the HCNGP family. 9606.ENSP00000462154,BAHCC1,2639,BAH domain and coiled-coil containing 1. 9606.ENSP00000462172,KIAA0040,99,Uncharacterized protein KIAA0040; KIAA0040. 9606.ENSP00000462259,AKAIN1,76,A-kinase anchor protein inhibitor 1; Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A- kinase anchoring protein (AKAP)-mediated subcellular localization of PKA. 9606.ENSP00000462269,ZNF488,340,"Zinc finger protein 488; Transcriptional repressor. Plays a role in oligodendrocyte differentiation, together with OLIG2. Mediates Notch signaling- activated formation of oligodendrocyte precursors. Promotes differentiation of adult neural stem progenitor cells (NSPCs) into mature oligodendrocytes and contributes to remyelination following nerve injury." 9606.ENSP00000462298,NOTCH2NLC,236,Notch 2 N-terminal like C. 9606.ENSP00000462309,CD300LF,305,"CMRF35-like molecule 1; Acts as an inhibitory receptor for myeloid cells and mast cells. Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis (By similarity). Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to cer [...] " 9606.ENSP00000462333,ENGASE,743,"Cytosolic endo-beta-N-acetylglucosaminidase; Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol." 9606.ENSP00000462337,VEZF1,521,Vascular endothelial zinc finger 1; Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000462349,STARD6,220,StAR-related lipid transfer protein 6; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity). 9606.ENSP00000462355,H4C15,103,H4 clustered histone 15. 9606.ENSP00000462419,FAM222B,562,Protein FAM222B; Family with sequence similarity 222 member B; Belongs to the FAM222 family. 9606.ENSP00000462435,TPPP3,176,Tubulin polymerization-promoting protein family member 3; Regulator of microtubule dynamic that has microtubule bundling activity. Required for embryo implantation; possibly by regulating beta-catenin (By similarity). Also required for decidualization via regulation of beta- catenin. 9606.ENSP00000462468,YES1,543,"Tyrosine-protein kinase Yes; Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGRF, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components su [...] " 9606.ENSP00000462521,TXNIP,391,"Thioredoxin-interacting protein; May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability. Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm. Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest. Required for the maturation of natural killer cells. Acts as a suppressor of tumor c [...] " 9606.ENSP00000462600,NBPF15,670,Neuroblastoma breakpoint family member 15; NBPF member 15. 9606.ENSP00000462647,ADCYAP1,176,"Pituitary adenylate cyclase-activating polypeptide 27; Binding to its receptor activates G proteins and stimulates adenylate cyclase in pituitary cells. Promotes neuron projection development through the RAPGEF2/Rap1/B-Raf/ERK pathway. In chromaffin cells, induces long-lasting increase of intracellular calcium concentrations and neuroendocrine secretion (By similarity). Involved in the control of glucose homeostasis, induces insulin secretion by pancreatic beta cells (By similarity). ECO:0000250|UniProtKB:P13589, ; Belongs to the glucagon family." 9606.ENSP00000462664,POLI,740,"DNA polymerase iota; Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but [...] " 9606.ENSP00000462667,H4C14,103,H4 clustered histone 14. 9606.ENSP00000462701,CDH8,799,Cadherin-8; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. 9606.ENSP00000462717,CUEDC1,386,CUE domain containing 1. 9606.ENSP00000462729,OTUD7B,843,"OTU domain-containing protein 7B; Negative regulator of the non-canonical NF-kappa-B pathway that acts by mediating deubiquitination of TRAF3, an inhibitor of the NF-kappa-B pathway, thereby acting as a negative regulator of B-cell responses. In response to non-canonical NF-kappa-B stimuli, deubiquitinates 'Lys-48'-linked polyubiquitin chains of TRAF3, preventing TRAF3 proteolysis and over-activation of non-canonical NF- kappa-B. Negatively regulates mucosal immunity against infections (By similarity). Deubiquitinates ZAP70, and thereby regulates T cell receptor (TCR) signaling that le [...] " 9606.ENSP00000462745,DCAF8L2,631,DDB1- and CUL4-associated factor 8-like protein 2; DDB1 and CUL4 associated factor 8 like 2; Belongs to the WD repeat DCAF8 family. 9606.ENSP00000462835,NAT9,212,N-acetyltransferase 9; Belongs to the acetyltransferase family. GNAT subfamily. 9606.ENSP00000462879,J3KTA2_HUMAN,159,Uncharacterized protein; Belongs to the complex I LYR family. 9606.ENSP00000462945,MSL1,351,"Male-specific lethal 1 homolog; Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at 'Lys-16' (H4K16ac) which is implicated in the formation of higher-order chromatin structure. Greatly enhances MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at 'Lys-34' (H2BK34Ub). This modification in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1. In the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together fo [...] " 9606.ENSP00000462963,TEFM,360,"Transcription elongation factor, mitochondrial; Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery; Belongs to the TEFM family." 9606.ENSP00000462980,TAF4B,867,"Transcription initiation factor TFIID subunit 4B; Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. TAF4B is a transcriptional coactivator of the p65/RELA NF- kappa-B subunit. Involved in the activation of a subset of antiapoptotic genes including TNFAIP3. May be involved in regulating folliculogenesis. Through interaction with OCBA/POU2AF1, acts as a coactivator of B- [...] " 9606.ENSP00000462996,SPATA33,140,Spermatogenesis-associated protein 33; Spermatogenesis associated 33. 9606.ENSP00000462998,MIEN1,116,"Migration and invasion enhancer 1; Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process; Belongs to the SelWTH family." 9606.ENSP00000463013,OAZ2,189,"Ornithine decarboxylase antizyme 2; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (By similarity)." 9606.ENSP00000463027,NCOA4,650,Nuclear receptor coactivator 4; Enhances the androgen receptor transcriptional activity in prostate cancer cells. Ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma. 9606.ENSP00000463032,FAM72C,149,Protein FAM72C; Family with sequence similarity 72 member C; Belongs to the FAM72 family. 9606.ENSP00000463051,GDF2,429,Growth/differentiation factor 2; Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. 9606.ENSP00000463057,PPIAL4C,164,Peptidyl-prolyl cis-trans isomerase A-like 4C; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. 9606.ENSP00000463058,RBM8A,174,RNA-binding protein 8A; Required for pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced [...] 9606.ENSP00000463069,RNF43,783,"E3 ubiquitin-protein ligase RNF43; E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway. Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity)." 9606.ENSP00000463080,MARCHF10,846,Probable E3 ubiquitin-protein ligase MARCHF10; E3 ubiquitin-protein ligase (Probable). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. 9606.ENSP00000463092,MSMB,114,Beta-microseminoprotein; Microseminoprotein beta. 9606.ENSP00000463151,RBP3,1247,Retinol-binding protein 3; IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina. 9606.ENSP00000463154,ANP32E,268,"Acidic leucine-rich nuclear phosphoprotein 32 family member E; Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AZ1 from the nucleosome: removes H2A.Z/H2AZ1 from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AZ1 in the nucleosome. May stabilize the evicted H2A.Z/H2AZ1-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state. Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar [...] " 9606.ENSP00000463159,C19orf47,422,Uncharacterized protein C19orf47; Chromosome 19 open reading frame 47. 9606.ENSP00000463201,SNURF,71,SNRPN upstream reading frame. 9606.ENSP00000463233,PABPC4L,370,Polyadenylate-binding protein 4-like; May bind RNA. 9606.ENSP00000463245,TMEM98,226,Transmembrane protein 98; Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of T helper 1 cells (Th1). 9606.ENSP00000463254,CCDC178,891,Coiled-coil domain containing 178. 9606.ENSP00000463287,KLF14,323,Kruppel like factor 14. 9606.ENSP00000463325,PTPRM,1465,Receptor-type tyrosine-protein phosphatase mu; Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control. 9606.ENSP00000463334,MIF4GD,263,MIF4G domain-containing protein; Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation. Belongs to the MIF4GD family. 9606.ENSP00000463361,SMIM6,62,Small integral membrane protein 6. 9606.ENSP00000463375,TMEM200C,621,Transmembrane protein 200C. 9606.ENSP00000463379,RPL17-C18orf32,228,RPL17-C18orf32 readthrough; Belongs to the universal ribosomal protein uL22 family. 9606.ENSP00000463393,SEC22B,215,Vesicle-trafficking protein SEC22b; SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER. Belongs to the synaptobrevin family. 9606.ENSP00000463419,PPIAL4E,164,Peptidyl-prolyl cis-trans isomerase A-like 4E; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. 9606.ENSP00000463533,KCNH6,994,"Potassium voltage-gated channel subfamily H member 6; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily." 9606.ENSP00000463559,MYL12B,172,"Myosin regulatory light chain 12B; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion." 9606.ENSP00000463574,ACP6,428,"Lysophosphatidic acid phosphatase type 6; Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (C16:0), and lower activity with C18:0 and C6:0 lysophosphatidic acid. Belongs to the histidine acid phosphatase family." 9606.ENSP00000463650,RNF115,304,"E3 ubiquitin-protein ligase RNF115; E3 ubiquitin-protein ligase that mediates E2-dependent, 'Lys- 48'- and/or 'Lys-63'-linked polyubiquitination of substrates and may play a role in diverse biological processes. Through their polyubiquitination, may play a role in the endosomal trafficking and degradation of membrane receptors including EGFR, FLT3, MET and CXCR4." 9606.ENSP00000463653,RBFOX3,312,RNA binding protein fox-1 homolog 3; Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD). 9606.ENSP00000463752,GJD3,294,"Gap junction delta-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Delta-type subfamily." 9606.ENSP00000463762,TERB1,727,"Telomere repeats-binding bouquet formation protein 1; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1- TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures an [...] " 9606.ENSP00000463778,KCNJ12,433,"ATP-sensitive inward rectifier potassium channel 12; Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potas [...] " 9606.ENSP00000463784,RPL26,145,60S ribosomal protein L26; Component of the large ribosomal subunit. 9606.ENSP00000463842,RPL17,184,60S ribosomal protein L17; Component of the large ribosomal subunit. Belongs to the universal ribosomal protein uL22 family. 9606.ENSP00000463939,ARHGDIA,235,"Rho GDP-dissociation inhibitor 1; Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. T [...] " 9606.ENSP00000463957,NBPF10,3795,Neuroblastoma breakpoint family member 10; NBPF member 10. 9606.ENSP00000463978,SLC16A3,465,"Monocarboxylate transporter 4; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family." 9606.ENSP00000463981,J3QR06_HUMAN,171,Uncharacterized protein. 9606.ENSP00000463982,YTHDC1,735,"YTH domain-containing protein 1; Regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs. M6A is a modification present at internal sites of mRNAs and some non- coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Acts as a key regulator of exon-inclusion or exon-skipping during alternative splicing via interaction with mRNA splicing factors SRSF3 and SRSF10. Specifically binds m6A-containing mRNAs and promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading [...] " 9606.ENSP00000464006,PITPNC1,332,Cytoplasmic phosphatidylinositol transfer protein 1; Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro. 9606.ENSP00000464030,IKBKE,716,"Inhibitor of nuclear factor kappa-B kinase subunit epsilon; Serine/threonine kinase that plays an essential role in regulating inflammatory responses to viral infection, through the activation of the type I IFN, NF-kappa-B and STAT signaling. Also involved in TNFA and inflammatory cytokines, like Interleukin-1, signaling. Following activation of viral RNA sensors, such as RIG-I- like receptors, associates with DDX3X and phosphorylates interferon regulatory factors (IRFs), IRF3 and IRF7, as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the [...] " 9606.ENSP00000464036,CDK11B,795,"Cyclin-dependent kinase 11B; Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity- dependent manner. Isoform 7 may act as a negative regulator of normal cell cycle progression." 9606.ENSP00000464050,DDX42,938,"ATP-dependent RNA helicase DDX42; ATP-dependent RNA helicase. Binds to partially double- stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Involved in the survival of cells by interacting with TP53BP2 and thereby c [...] " 9606.ENSP00000464087,RNF213,5207,"E3 ubiquitin-protein ligase RNF213; E3 ubiquitin-protein ligase involved in angiogenesis. Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression. Also has ATPase activity." 9606.ENSP00000464121,ADAP2,387,"Arf-GAP with dual PH domain-containing protein 2; GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity." 9606.ENSP00000464145,GDF10,478,Growth/differentiation factor 10; Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis; Belongs to the TGF-beta family. 9606.ENSP00000464162,GREB1L,1923,GREB1-like protein; Plays a major role in early metanephros and genital development. 9606.ENSP00000464167,J3QRE1_HUMAN,110,Uncharacterized protein. 9606.ENSP00000464215,CYB561,258,Cytochrome b561; Secretory vesicle-specific electron transport protein. 9606.ENSP00000464218,ZNF286A,521,Zinc finger protein 286A; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000464231,SLC25A35,300,Solute carrier family 25 member 35; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000464258,VHLL,139,Von Hippel-Lindau-like protein; Functions as a dominant-negative VHL to serve as a protector of HIFalpha. 9606.ENSP00000464275,C17orf75,396,Protein Njmu-R1; As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1. May have a role in spermatogenesis. 9606.ENSP00000464317,MYH3,1940,Myosin-3; Muscle contraction. 9606.ENSP00000464330,C18orf63,685,Uncharacterized protein C18orf63; Chromosome 18 open reading frame 63. 9606.ENSP00000464342,RPL36,105,60S ribosomal protein L36; Component of the large ribosomal subunit. 9606.ENSP00000464357,CENPX,131,"Centromere protein X; DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked rep [...] " 9606.ENSP00000464359,MYL12A,177,"Myosin regulatory light chain 12A; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity)." 9606.ENSP00000464383,L7N2F9_HUMAN,121,V-SNARE coiled-coil homology domain-containing protein. 9606.ENSP00000464391,TSHZ1,1077,Teashirt homolog 1; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). Belongs to the teashirt C2H2-type zinc-finger protein family. 9606.ENSP00000464443,IFT20,158,"Intraflagellar transport protein 20 homolog; Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium. Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling. Essential for male fertility. Plays an important role in spermatogenesis, particularly sperm [...] " 9606.ENSP00000464512,HELZ,1943,Probable helicase with zinc finger domain; May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo; Belongs to the DNA2/NAM7 helicase family. 9606.ENSP00000464522,TIMM23,209,"Mitochondrial import inner membrane translocase subunit Tim23; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane; Belongs to the Tim17/Tim22/Tim23 family." 9606.ENSP00000464535,LRRC37A3,1634,Leucine-rich repeat-containing protein 37A3; Leucine rich repeat containing 37 member A3. 9606.ENSP00000464577,OTOP3,596,Proton channel OTOP3; Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes. Belongs to the otopetrin family. 9606.ENSP00000464619,PPIAL4H,164,Peptidyl-prolyl cis-trans isomerase A-like 4H; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the cyclophilin-type PPIase family. PPIase A subfamily. 9606.ENSP00000464635,AMZ2,360,Archaemetzincin-2; Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2. Belongs to the peptidase M54 family. 9606.ENSP00000464780,TPGS2,304,Tubulin polyglutamylase complex subunit 2. 9606.ENSP00000464788,ZNF285,597,Zinc finger protein 285; May be involved in transcriptional regulation. 9606.ENSP00000464813,RPL27,136,60S ribosomal protein L27; Component of the large ribosomal subunit. Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs. 9606.ENSP00000464814,COASY,593,"Phosphopantetheine adenylyltransferase; Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation." 9606.ENSP00000464849,CAPNS1,268,Calpain small subunit 1; Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. 9606.ENSP00000464872,ZNF519,540,Zinc finger protein 519; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000464893,UNK,810,RING finger protein unkempt homolog; Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes. Belongs to the unkempt family. 9606.ENSP00000464932,MFSD11,449,UNC93-like protein MFSD11; Major facilitator superfamily domain containing 11; Belongs to the unc-93 family. 9606.ENSP00000464955,PLEKHJ1,277,Pleckstrin homology domain containing J1. 9606.ENSP00000464976,ZNF850,1090,Zinc finger protein 850; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000465039,MAP4K1,833,"Mitogen-activated protein kinase kinase kinase kinase 1; Serine/threonine-protein kinase, which may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation. Able to autophosphorylate. Together with CLNK, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity)." 9606.ENSP00000465075,SPC24,197,"Kinetochore protein Spc24; Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules." 9606.ENSP00000465099,CD3EAP,512,"DNA-directed RNA polymerase I subunit RPA34; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation." 9606.ENSP00000465103,MXRA7,213,Matrix-remodeling-associated protein 7; Matrix remodeling associated 7. 9606.ENSP00000465121,ZNF226,803,Zinc finger protein 226; May be involved in transcriptional regulation. 9606.ENSP00000465157,MISP3,219,Uncharacterized protein MISP3; MISP family member 3; Belongs to the MISP family. 9606.ENSP00000465204,CNTD1,330,Cyclin N-terminal domain containing 1. 9606.ENSP00000465212,K7EJK4_HUMAN,120,KRAB domain-containing protein. 9606.ENSP00000465213,POP4,220,"Ribonuclease P protein subunit p29; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends." 9606.ENSP00000465231,GCOM1,765,GRINL1A combined protein 15; GRINL1A complex locus 1. 9606.ENSP00000465260,CBARP,453,"Voltage-dependent calcium channel beta subunit-associated regulatory protein; Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis." 9606.ENSP00000465261,TMC6,805,Transmembrane channel-like protein 6; Probable ion channel; Belongs to the TMC family. 9606.ENSP00000465295,KCNJ16,453,"Inward rectifier potassium channel 16; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolater [...] " 9606.ENSP00000465356,APOC1,83,"Truncated apolipoprotein C-I; Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the in [...] " 9606.ENSP00000465419,TJP3,928,"Tight junction protein ZO-3; TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton. The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions. Promote [...] " 9606.ENSP00000465432,C19orf53,99,Leydig cell tumor 10 kDa protein homolog; May have a potential role in hypercalcemia of malignancy. 9606.ENSP00000465500,TNFRSF11A,616,Tumor necrosis factor receptor superfamily member 11A; Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL- mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells. 9606.ENSP00000465517,C18orf21,220,UPF0711 protein C18orf21; Chromosome 18 open reading frame 21. 9606.ENSP00000465578,ZNF529,563,Zinc finger protein 529; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000465589,ACSBG2,666,"Long-chain-fatty-acid--CoA ligase ACSBG2; Catalyzes the conversion of fatty acids such as long chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis." 9606.ENSP00000465617,IER2,223,"Immediate early response gene 2 protein; DNA-binding protein that seems to act as a transcription factor. Involved in the regulation of neuronal differentiation, acts upon JNK-signaling pathway activation and plays a role in neurite outgrowth in hippocampal cells (By similarity). May mediate with FIBP FGF-signaling in the establishment of laterality in the embryo (By similarity). Promotes cell motility, seems to stimulate tumor metastasis. ECO:0000250|UniProtKB:Q6P7D3, ; Belongs to the IER family." 9606.ENSP00000465630,EVPL,2055,Envoplakin; Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. 9606.ENSP00000465638,TMEM100,134,"Transmembrane protein 100; Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor- dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open [...] " 9606.ENSP00000465676,PIAS2,621,"E3 SUMO-protein ligase PIAS2; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumo [...] " 9606.ENSP00000465685,AP1M2,425,AP-1 complex subunit mu-2; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. 9606.ENSP00000465712,C10orf82,234,Uncharacterized protein C10orf82; Chromosome 10 open reading frame 82. 9606.ENSP00000465734,SLC16A2,539,"Monocarboxylate transporter 8; Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr; Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family." 9606.ENSP00000465757,CCDC106,280,Coiled-coil domain-containing protein 106; Promotes the degradation of p53/TP53 protein and inhibits its transactivity. 9606.ENSP00000465759,POLRMT,1230,"DNA-directed RNA polymerase, mitochondrial; DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA. In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand." 9606.ENSP00000465765,ELOF1,104,Transcription elongation factor 1 homolog; Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions. 9606.ENSP00000465776,CCDC130,396,Coiled-coil domain containing 130; Belongs to the CWC16 family. 9606.ENSP00000465894,MPPE1,396,"Metallophosphoesterase 1; Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI- anchor proteins; Belongs to the metallophosphoesterase superfamily. MPPE1 family." 9606.ENSP00000465978,GSG1L2,293,Germ cell-specific gene 1-like protein 2; GSG1 like 2. 9606.ENSP00000465992,KIF18B,852,"Kinesin-like protein KIF18B; In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family." 9606.ENSP00000466009,PPY,95,Pancreatic icosapeptide; Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions. 9606.ENSP00000466010,RPS15,152,Ribosomal protein S15. 9606.ENSP00000466022,CEBPG,150,"CCAAT/enhancer-binding protein gamma; Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene. Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter. Belongs to the bZIP family. C/EBP subfamily." 9606.ENSP00000466025,CIRBP,297,"Cold-inducible RNA-binding protein; Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'- UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed." 9606.ENSP00000466047,ZNF581,197,Zinc finger protein 581; May be involved in transcriptional regulation. 9606.ENSP00000466051,ZNF404,552,Zinc finger protein 404; May be involved in transcriptional regulation. 9606.ENSP00000466070,LYPD8,237,"Ly6/PLAUR domain-containing protein 8; Secreted protein specifically required to prevent invasion of Gram-negative bacteria in the inner mucus layer of the colon epithelium, a portion of the large intestine which is free of commensal microbiota. Prevents invasion of flagellated microbiota by binding to the flagellum of bacteria, such as P.mirabilis, thereby inhibiting bacterial motility in the intestinal lumen. Segregation of intestinal bacteria and epithelial cells in the colon is required to preserve intestinal homeostasis." 9606.ENSP00000466072,ZSCAN5B,495,Zinc finger and SCAN domain-containing protein 5B; May be involved in transcriptional regulation. 9606.ENSP00000466090,ELANE,267,"Neutrophil elastase; Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis. Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae ; Belongs to the peptidase S1 family. Elastase subfamily." 9606.ENSP00000466111,RNMT,504,mRNA cap guanine-N7 methyltransferase; Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Binds RNA containing 5'-terminal GpppC. 9606.ENSP00000466121,FAAP24,215,"Fanconi anemia core complex-associated protein 24; Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA." 9606.ENSP00000466134,PRKCSH,535,"Glucosidase 2 subunit beta; Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity)." 9606.ENSP00000466140,ENSP00000466140,129,Novel protein. 9606.ENSP00000466174,ATF7-NPFF,463,"Cyclic AMP-dependent transcription factor ATF-7; Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters." 9606.ENSP00000466214,PDCD5,125,Programmed cell death protein 5; May function in the process of apoptosis. 9606.ENSP00000466259,ACLY,1101,"ATP-citrate synthase; Catalyzes the cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate for de novo cholesterol and fatty acid synthesis. In the N-terminal section; belongs to the succinate/malate CoA ligase beta subunit family." 9606.ENSP00000466285,NLRP11,1033,"NACHT, LRR and PYD domains-containing protein 11; Involved in inflammation; Belongs to the NLRP family." 9606.ENSP00000466298,STX10,249,Syntaxin-10; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network; Belongs to the syntaxin family. 9606.ENSP00000466363,PIP5K1C,707,"Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma; Catalyzes the phosphorylation of phosphatidylinositol 4- phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5- trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4- phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as vesicle mediated transpo [...] " 9606.ENSP00000466379,GET3,348,"ATPase ASNA1; ATPase required for the post-translational delivery of tail- anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. [...] " 9606.ENSP00000466399,RAD51D,348,"DNA repair protein RAD51 homolog 4; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication fo [...] " 9606.ENSP00000466477,TSSK6,273,Testis-specific serine/threonine-protein kinase 6; Required for sperm production and function. Plays a role in DNA condensation during postmeiotic chromatin remodeling (By similarity). 9606.ENSP00000466500,ZNF396,335,Zinc finger protein 396; Isoform 1 and isoform 2 act as DNA-dependent transcriptional repressors. 9606.ENSP00000466514,K7EMI3_HUMAN,77,Uncharacterized protein. 9606.ENSP00000466542,TLE2,744,Transducin-like enhancer protein 2; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full- length TLE family members may be modulated by association with dominant-negative AES (By similarity); Belongs to the WD repeat Groucho/TLE family. 9606.ENSP00000466561,CEACAM16,425,"Carcinoembryonic antigen-related cell adhesion molecule 16; Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane." 9606.ENSP00000466639,K7EMT4_HUMAN,169,Uncharacterized protein. 9606.ENSP00000466664,SLC44A2,711,"Choline transporter-like protein 2; Isoform 1, but not isoform 3, exhibits some choline transporter activity; Belongs to the CTL (choline transporter-like) family." 9606.ENSP00000466680,RND2,227,Rho-related GTP-binding protein RhoN; May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity). 9606.ENSP00000466690,CCDC68,335,"Coiled-coil domain-containing protein 68; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells. Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly." 9606.ENSP00000466718,LSM12,195,LSM12 homolog. 9606.ENSP00000466775,APOC2,101,"Proapolipoprotein C-II; Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL." 9606.ENSP00000466818,COX6B1,86,"Cytochrome c oxidase subunit 6B1; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and [...] " 9606.ENSP00000466829,K7EN84_HUMAN,100,Uncharacterized protein. 9606.ENSP00000466834,RAD51D-2,272,"HCG2039718, isoform CRA_g." 9606.ENSP00000466845,GCDH,438,"Glutaryl-CoA dehydrogenase, mitochondrial; Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L- hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. Belongs to the acyl-CoA dehydrogenase family." 9606.ENSP00000466880,FUT5,374,"Alpha-(1,3)-fucosyltransferase 5; May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens." 9606.ENSP00000466898,PLPPR2,427,Phospholipid phosphatase-related protein type 2; Phospholipid phosphatase related 2. 9606.ENSP00000466907,ZNF524,264,Zinc finger protein 524; May be involved in transcriptional regulation. 9606.ENSP00000466937,FHOD3,1622,FH1/FH2 domain-containing protein 3; Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes. 9606.ENSP00000466953,WTIP,430,"Wilms tumor protein 1-interacting protein; Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates Hippo signaling pathway and antagonizes phosphorylation of YAP1. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadheri [...] " 9606.ENSP00000466967,TRMT1,659,tRNA (guanine(26)-N(2))-dimethyltransferase; Dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl-L-methionine as donor of the methyl groups. 9606.ENSP00000467024,RAD23A,363,UV excision repair protein RAD23 homolog A; Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to 'Lys-48'-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to 'Lys-63'- linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome. (Microbial infection) Involved in Vpr-dependent replication of HIV-1 in non-proliferating cells and primary macrophages. Required for the association of HIV-1 Vpr [...] 9606.ENSP00000467041,INO80C-2,123,Uncharacterized protein. 9606.ENSP00000467107,RINL,566,Ras and Rab interactor-like protein; Guanine nucleotide exchange factor (GEF) for RAB5A and RAB22A that activates RAB5A and RAB22A by exchanging bound GDP for free GTP. Plays a role in endocytosis via its role in activating Rab family members (By similarity). 9606.ENSP00000467123,NLRP7,1037,"NACHT, LRR and PYD domains-containing protein 7; Inhibits CASP1/caspase-1-dependent IL1B secretion. Belongs to the NLRP family." 9606.ENSP00000467141,TTN,32000,"Titin; Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase; Belongs to the protein kinase su [...] " 9606.ENSP00000467176,TNNT1,278,"Troponin T, slow skeletal muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity." 9606.ENSP00000467201,GJC1,396,"Gap junction gamma-1 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000467218,ZNF570,592,Zinc finger protein 570; May be involved in transcriptional regulation. 9606.ENSP00000467262,UQCR11,56,"Cytochrome b-c1 complex subunit 10; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the in [...] " 9606.ENSP00000467266,COX6B2,88,"Cytochrome c oxidase subunit 6B2; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and [...] " 9606.ENSP00000467271,ABCA8,1621,ATP-binding cassette sub-family A member 8; ATP-dependent lipophilic drug transporter. 9606.ENSP00000467286,ZNF69-2,414,Zinc finger protein 69; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000467290,SEMA6B,888,Semaphorin-6B; May play a role in both peripheral and central nervous system development. 9606.ENSP00000467301,OR4F17,305,Olfactory receptor 4F17; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000467423,SAFB,917,"Scaffold attachment factor B1; Binds to scaffold/matrix attachment region (S/MAR) DNA and forms a molecular assembly point to allow the formation of a 'transcriptosomal' complex (consisting of SR proteins and RNA polymerase II) coupling transcription and RNA processing (By similarity). Can function as an estrogen receptor corepressor and can also bind to the HSP27 promoter and decrease its transcription. When associated with RBMX, binds to and stimulates transcription from the SREBF1 promoter (By similarity). Can inhibit cell proliferation." 9606.ENSP00000467494,GIPR,466,Gastric inhibitory polypeptide receptor; This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 2 family. 9606.ENSP00000467537,PTPRS,1948,"Receptor-type tyrosine-protein phosphatase S; Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan. Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain developm [...] " 9606.ENSP00000467556,GPATCH8,1502,G-patch domain containing 8. 9606.ENSP00000467579,WBP2,261,"WW domain-binding protein 2; Acts as transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation. In presence of estrogen, binds to ESR1-responsive promoters. Required for YAP1 coactivation function on PGR activity. Synergizes with WBP2 in enhancing PGR activity. Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR (By similarity)." 9606.ENSP00000467600,SYNGR2,275,"Synaptogyrin-2; May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane; Belongs to the synaptogyrin family." 9606.ENSP00000467661,PRCD,54,Photoreceptor disk component PRCD; Involved in vision; Belongs to the PRCD family. 9606.ENSP00000467723,ZNF699,642,Zinc finger protein 699; May be involved in transcriptional regulation. 9606.ENSP00000467740,ANKRD62,917,Ankyrin repeat domain 62. 9606.ENSP00000467753,LINGO3,592,Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3; Leucine rich repeat and Ig domain containing 3. 9606.ENSP00000467843,BOD1L2,172,Biorientation of chromosomes in cell division protein 1-like 2; May play a role in proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles; Belongs to the BOD1 family. 9606.ENSP00000467931,ZNF461,563,Zinc finger protein 461; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000467958,K7EQS6_HUMAN,105,Uncharacterized protein. 9606.ENSP00000468002,KANK2,859,"KN motif and ankyrin repeat domain-containing protein 2; Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3. Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria. Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis. Involved in the negative control of vitamin D receptor signaling pathway. Involved in actin stress fibers formation through its interaction with ARHGDI [...] " 9606.ENSP00000468007,LUZP6,58,Leucine zipper protein 6. 9606.ENSP00000468025,TMEM101,257,Transmembrane protein 101; May activate NF-kappa-B signaling pathways. 9606.ENSP00000468032,SARM1,724,"NAD(+) hydrolase SARM1; NAD(+) hydrolase, which plays a key role in axonal degeneration following injury by regulating NAD(+) metabolism. Acts as a negative regulator of MYD88- and TRIF-dependent toll-like receptor signaling pathway by promoting Wallerian degeneration, an injury-induced form of programmed subcellular death which involves degeneration of an axon distal to the injury site. Wallerian degeneration is triggered by NAD(+) depletion: in response to injury, SARM1 is activated and catalyzes cleavage of NAD(+) into ADP-D-ribose (ADPR), cyclic ADPR (cADPR) and nicotinamide; NAD(+ [...] " 9606.ENSP00000468040,K7EQZ3_HUMAN,153,BPTI/Kunitz inhibitor domain-containing protein. 9606.ENSP00000468049,ZNF101,436,Zinc finger protein 101; May be involved in transcriptional regulation. 9606.ENSP00000468086,MC5R,325,"Melanocortin receptor 5; Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000468153,ZNF559,602,Zinc finger protein 559; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000468232,CCDC159,297,Coiled-coil domain containing 159. 9606.ENSP00000468236,APOC4,127,Apolipoprotein C-IV; May participate in lipoprotein metabolism. 9606.ENSP00000468253,CFD,260,"Complement factor D; Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway; Belongs to the peptidase S1 family." 9606.ENSP00000468271,K7ERI5_HUMAN,159,KRAB domain-containing protein. 9606.ENSP00000468280,K7ERJ3_HUMAN,54,Uncharacterized protein. 9606.ENSP00000468304,MBTD1,628,"MBT domain-containing protein 1; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated 'Lys-20' on histone H4." 9606.ENSP00000468308,FAM20A,541,Pseudokinase FAM20A; Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals. 9606.ENSP00000468312,EML2,850,"Echinoderm microtubule-associated protein-like 2; Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules." 9606.ENSP00000468348,MAP2K6,334,"Dual specificity mitogen-activated protein kinase kinase 6; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. With MAP3K3/MKK3, catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinases p38 MAPK11, MAPK12, MAPK13 and MAPK14 and plays an important role in the regulation of cellular responses to cytokines and all kinds of stresses. Especially, MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 and MAPK13 induced by environmental stress, whereas MAP2K6/MKK6 i [...] " 9606.ENSP00000468354,ANKRD29,301,Ankyrin repeat domain 29. 9606.ENSP00000468367,K7ERQ8_HUMAN,282,PCAF_N domain-containing protein. 9606.ENSP00000468376,PLK5,336,Inactive serine/threonine-protein kinase PLK5; Inactive serine/threonine-protein kinase that plays a role in cell cycle progression and neuronal differentiation. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. 9606.ENSP00000468411,PSENEN,101,"Gamma-secretase subunit PEN-2; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity. Belongs to the PEN-2 family." 9606.ENSP00000468424,NMT1,496,Glycylpeptide N-tetradecanoyltransferase 1; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. Belongs to the NMT family. 9606.ENSP00000468425,TK1,267,"Thymidine kinase, cytosolic; Thymidine kinase 1; Belongs to the thymidine kinase family." 9606.ENSP00000468592,BCAS3,950,Breast carcinoma-amplified sequence 3; Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor- responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin; Belongs to the BCAS3 family. 9606.ENSP00000468633,SEC11C,192,Signal peptidase complex catalytic subunit SEC11C; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum. 9606.ENSP00000468643,ZNF121,390,Zinc finger protein 121; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000468678,PLEKHH3,793,"Pleckstrin homology, MyTH4 and FERM domain containing H3." 9606.ENSP00000468690,K7ESF4_HUMAN,209,Uncharacterized protein. 9606.ENSP00000468720,ZNF253,499,Zinc finger protein 253; May function as a transcription factor. Seem to have a transcriptional repression activity; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000468723,MICOS13,140,"MICOS complex subunit MIC13; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MICOS10/MIC10 into the MICOS complex." 9606.ENSP00000468782,ZBTB7C,619,Zinc finger and BTB domain-containing protein 7C; May be a tumor suppressor gene. 9606.ENSP00000468785,MBD1,655,"Methyl-CpG-binding domain protein 1; Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylat [...] " 9606.ENSP00000468837,M0QX08_HUMAN,132,Protein kinase domain-containing protein. 9606.ENSP00000468897,FPR2,351,"N-formyl peptide receptor 2; Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophil chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The activation of LXA4R could result in an anti- inflammatory outcome counteracting the actions of proinflammatory signals such as LTB4 (leukotriene B4). Receptor for the chemokine-like protein FAM19A5, mediating FAM19A5-stimulated macrophage chemotaxis and the inhibitory effec [...] " 9606.ENSP00000468927,STAP2,449,Signal-transducing adaptor protein 2; Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity. 9606.ENSP00000468956,JOSD2,188,"Josephin-2; Cleaves 'Lys-63'-linked poly-ubiquitin chains, and with lesser efficiency 'Lys-48'-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme." 9606.ENSP00000468969,WDR83OS,106,Protein Asterix; WD repeat domain 83 opposite strand. 9606.ENSP00000468980,SLC25A53,307,Solute carrier family 25 member 53. 9606.ENSP00000468991,MTRNR2L12,24,MT-RNR2 like 12. 9606.ENSP00000469011,SSX4,188,Protein SSX4; Could act as a modulator of transcription. 9606.ENSP00000469035,COPE,331,"Coatomer subunit epsilon; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex [...] " 9606.ENSP00000469049,TNFSF14,240,"Tumor necrosis factor ligand superfamily member 14, membrane form; Cytokine that binds to TNFRSF3/LTBR. Binding to the decoy receptor TNFRSF6B modulates its effects. Acts as a ligand for TNFRSF14/HVEM. Upon binding to TNFRSF14/HVEM, delivers costimulatory signals to T cells, leading to T cell proliferation and IFNG production." 9606.ENSP00000469142,NPAS1,590,Neuronal PAS domain-containing protein 1; May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity). Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (By similarity). 9606.ENSP00000469158,SPHK2,654,"Sphingosine kinase 2; Catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D- erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides. In contrast to prosurvival SPHK1, has a positive effect on intracellular ceramide levels, inhibits cells growth and enhances apoptosis. In mitochondria, is important for cytochrome-c oxidase assembly and mitochondrial respiration. The SPP produced in mitochondria binds PHB2 and modulates the regulat [...] " 9606.ENSP00000469194,EMP3,163,Epithelial membrane protein 3; Probably involved in cell proliferation and cell-cell interactions. 9606.ENSP00000469223,HSFX2,423,"Heat shock transcription factor family, X-linked 2." 9606.ENSP00000469240,CHMP2A,222,"Charged multivesicular body protein 2a; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] " 9606.ENSP00000469242,SPTBN4,2564,"Spectrin beta chain, non-erythrocytic 4." 9606.ENSP00000469248,FAM156B,213,Protein FAM156A/FAM156B; Family with sequence similarity 156 member B. 9606.ENSP00000469315,KLK15,256,Kallikrein-15; Protease whose physiological substrate is not yet known; Belongs to the peptidase S1 family. Kallikrein subfamily. 9606.ENSP00000469332,GABRQ,632,"Gamma-aminobutyric acid receptor subunit theta; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000469337,LRRC63,587,Leucine-rich repeat-containing protein 63; Leucine rich repeat containing 63. 9606.ENSP00000469391,ZNF677,584,Zinc finger protein 677; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000469394,SSX4B,188,SSX family member 4B. 9606.ENSP00000469413,PAK4,591,"Serine/threonine-protein kinase PAK 4; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, growth, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates and inactivates the protein phosphatase SSH1, leading to increased inhibitory phosphorylation of the actin binding/depolymerizing factor cofilin [...] " 9606.ENSP00000469417,KLK9,250,Kallikrein-9; Kallikrein related peptidase 9. 9606.ENSP00000469441,CTAG1A,180,Cancer/testis antigen 1A. 9606.ENSP00000469445,PNMA3,463,Paraneoplastic antigen Ma3; PNMA family member 3; Belongs to the PNMA family. 9606.ENSP00000469455,NTF4,210,Neurotrophin-4; Target-derived survival factor for peripheral sensory sympathetic neurons. 9606.ENSP00000469468,LSM4,139,"U6 snRNA-associated Sm-like protein LSm4; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA." 9606.ENSP00000469474,CCDC177,707,Coiled-coil domain containing 177. 9606.ENSP00000469534,WIZ,835,Protein Wiz; May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity). 9606.ENSP00000469582,ZNF729,1252,Zinc finger protein 729; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000469588,M0QY47_HUMAN,47,Uncharacterized protein. 9606.ENSP00000469591,ZNF628,1059,Zinc finger protein 628; Transcription activator. Binds DNA on GT-box consensus sequence 5'-TTGGTT-3' (By similarity). 9606.ENSP00000469613,FLT3LG,235,Fms-related tyrosine kinase 3 ligand; Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins. 9606.ENSP00000469686,EGLN2,407,"Egl nine homolog 2; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is [...] " 9606.ENSP00000469696,PDE4C,712,Phosphodiesterase 4C. 9606.ENSP00000469759,LRIT3,679,"Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3; Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells (By similarity). Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina. Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). Seems to play a specific role in synaptic contacts made by ON-bipolar cel [...] " 9606.ENSP00000469811,M0QYG6_HUMAN,137,Uncharacterized protein. 9606.ENSP00000469836,MPV17L2,206,Mpv17-like protein 2; Required for the assembly and stability of the mitochondrial ribosome. Is a positive regulator of mitochondrial protein synthesis ; Belongs to the peroxisomal membrane protein PXMP2/4 family. 9606.ENSP00000469863,DYRK1B,629,"Dual specificity tyrosine-phosphorylation-regulated kinase 1B; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase (G6PC); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily." 9606.ENSP00000469876,SCGB2B2,96,Secretoglobin family 2B member 2. 9606.ENSP00000469880,VRK3,474,Inactive serine/threonine-protein kinase VRK3; Inactive kinase that suppresses ERK activity by promoting phosphatase activity of DUSP3 which specifically dephosphorylates and inactivates ERK in the nucleus. 9606.ENSP00000469888,TRAPPC2B,140,Trafficking protein particle complex 2B. 9606.ENSP00000469926,M0QYM2_HUMAN,67,Uncharacterized protein. 9606.ENSP00000469958,ZNF626,528,Zinc finger protein 626; May be involved in transcriptional regulation. 9606.ENSP00000469970,OPN1MW3,364,"Opsin 1, medium wave sensitive 3." 9606.ENSP00000469981,TAZ,292,Tafazzin; Some isoforms may be involved in cardiolipin (CL) metabolism. Belongs to the taffazin family. 9606.ENSP00000469998,ZNF114,417,Zinc finger protein 114; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000470059,M0QYT0_HUMAN,321,RRM domain-containing protein. 9606.ENSP00000470086,M0QYU9_HUMAN,62,Uncharacterized protein. 9606.ENSP00000470087,M0QYV0_HUMAN,167,Protein kinase domain-containing protein; Belongs to the protein kinase superfamily. 9606.ENSP00000470123,ZSCAN18,566,Zinc finger and SCAN domain-containing protein 18; May be involved in transcriptional regulation. 9606.ENSP00000470129,MIA,131,"Melanoma-derived growth regulatory protein; Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas; Belongs to the MIA/OTOR family." 9606.ENSP00000470142,UPF1,1129,"Regulator of nonsense transcripts 1; RNA-dependent helicase and ATPase required for nonsense- mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more n [...] " 9606.ENSP00000470152,DTNA,724,Dystrobrevin alpha; May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors. 9606.ENSP00000470176,AP2S1,158,"AP-2 complex subunit sigma; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold bu [...] " 9606.ENSP00000470185,CT45A1,189,Cancer/testis antigen family 45 member A1. 9606.ENSP00000470209,ZNF257,563,Zinc finger protein 257; May be involved in transcriptional regulation. 9606.ENSP00000470239,ZNF836,936,Zinc finger protein 836; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000470246,RAB4B,213,Ras-related protein Rab-4B; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family. 9606.ENSP00000470248,PRICKLE3,615,"Prickle planar cell polarity protein 3; Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the orga [...] " 9606.ENSP00000470252,SUPT5H,1087,"Transcription elongation factor SPT5; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote paus [...] " 9606.ENSP00000470259,SIGLEC5-2,551,"Sialic acid-binding Ig-like lectin 5; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds equally to alpha-2,3-linked and alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface." 9606.ENSP00000470262,TRAPPC5,188,Trafficking protein particle complex subunit 5; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. BET3 subfamily. 9606.ENSP00000470323,ZNF329,541,Zinc finger protein 329; May be involved in transcriptional regulation. 9606.ENSP00000470381,ZNF468,522,Zinc finger protein 468; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000470383,M0QZ92_HUMAN,97,SEC7 domain-containing protein. 9606.ENSP00000470441,RNF225,329,Ring finger protein 225. 9606.ENSP00000470478,LOC400499,3266,Putative uncharacterized protein LOC400499. 9606.ENSP00000470538,KLK7,253,"Kallikrein-7; May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6-Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|-Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines." 9606.ENSP00000470539,PET100,73,"Protein PET100 homolog, mitochondrial; PET100 cytochrome c oxidase chaperone; Belongs to the PET100 family." 9606.ENSP00000470555,KLK13,277,Kallikrein-13; Kallikrein related peptidase 13. 9606.ENSP00000470560,EMG1,244,"Ribosomal RNA small subunit methyltransferase NEP1; S-adenosyl-L-methionine-dependent pseudouridine N(1)- methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position. Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-riboso [...] " 9606.ENSP00000470584,SPANXN2,180,Sperm protein associated with the nucleus on the X chromosome N2; SPANX family member N2. 9606.ENSP00000470615,ENSP00000470615,103,Novel protein. 9606.ENSP00000470652,SLC35E1,410,Solute carrier family 35 member E1; Putative transporter. 9606.ENSP00000470746,ZNF841,924,Zinc finger protein 841; May be involved in transcriptional regulation. 9606.ENSP00000470788,IL12RB1,662,"Interleukin-12 receptor subunit beta-1; Functions as an interleukin receptor which binds interleukin- 12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade." 9606.ENSP00000470801,SLC6A14,642,Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+); Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner. 9606.ENSP00000470813,CGB7,165,"Choriogonadotropin subunit beta 7; Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role for pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy." 9606.ENSP00000470879,TMEM59L,342,Transmembrane protein 59-like; Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of APP. Inhibits APP transport to the cell surface and further shedding. 9606.ENSP00000470969,M0R036_HUMAN,132,KRAB domain-containing protein. 9606.ENSP00000470972,RPS19,145,40S ribosomal protein S19; Required for pre-rRNA processing and maturation of 40S ribosomal subunits; Belongs to the eukaryotic ribosomal protein eS19 family. 9606.ENSP00000471000,ZNF616,781,Zinc finger protein 616; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000471017,MAGEA9B,315,MAGE family member A9B. 9606.ENSP00000471041,ZNF615,742,Zinc finger protein 615; May be involved in transcriptional regulation. 9606.ENSP00000471077,M0R082_HUMAN,166,Uncharacterized protein. 9606.ENSP00000471126,SMIM17,118,Small integral membrane protein 17. 9606.ENSP00000471191,NUP62,522,"Nuclear pore glycoprotein p62; Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex. Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation. It might be involved in protein recruitment to the centrosome after nuclear breakdown." 9606.ENSP00000471224,DMRTC1,192,DMRT like family C1. 9606.ENSP00000471239,ZFP36,332,"mRNA decay activator protein ZFP36; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as an 3'- untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery. Recruits deadenylase CNOT7 (and probably the CCR4-NOT complex) via association with CNOT1, and hence promotes ARE-mediated mRNA deadenylation. Functions also by recruiting compon [...] " 9606.ENSP00000471252,ANKRD24,1146,Ankyrin repeat domain 24. 9606.ENSP00000471277,ZNF558,402,Zinc finger protein 558; May be involved in transcriptional regulation. 9606.ENSP00000471299,MAGIX,334,"PDZ domain-containing protein MAGIX; MAGI family member, X-linked." 9606.ENSP00000471417,ANKDD1B,528,Ankyrin repeat and death domain containing 1B. 9606.ENSP00000471418,CT45A3,189,Cancer/testis antigen family 45 member A3; Belongs to the CT45 family. 9606.ENSP00000471454,CCDC61,512,Coiled-coil domain containing 61. 9606.ENSP00000471455,CCDC124,223,Coiled-coil domain-containing protein 124; Required for proper progression of late cytokinetic stages. Belongs to the CCDC124 family. 9606.ENSP00000471457,MYO9B,2022,"Unconventional myosin-IXb; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions. Also acts as a GTPase activator for RHOA. Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereb [...] " 9606.ENSP00000471477,FGF21,209,Fibroblast growth factor 21; Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. Belongs to the heparin-binding growth factors family. 9606.ENSP00000471493,FPR1,350,"fMet-Leu-Phe receptor; High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors. Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release. This response is mediated via a G- protein that activates a phosphatidylinositol-calcium second messenger system. Receptor for TAFA4, mediates its effects on chemoattracting macrophages, promoting phagocytosis and increasing ROS release." 9606.ENSP00000471512,DEDD2,326,DNA-binding death effector domain-containing protein 2; May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. 9606.ENSP00000471516,ZNF726,616,Zinc finger protein 726; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000471536,MARCHF2,246,"E3 ubiquitin-protein ligase MARCHF2; E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6." 9606.ENSP00000471575,MBD3L1,194,Methyl-CpG-binding domain protein 3-like 1; Transcriptional repressor. 9606.ENSP00000471593,ZNF728,622,Zinc finger protein 728. 9606.ENSP00000471604,TEX13A,409,Testis-expressed protein 13A; Testis expressed 13A; Belongs to the TEX13 family. 9606.ENSP00000471613,ENSP00000471613,149,Novel zinc finger protein. 9606.ENSP00000471646,SCGB1C2,95,Secretoglobin family 1C member 2. 9606.ENSP00000471683,SLC38A5,472,"Sodium-coupled neutral amino acid transporter 5; Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH-sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium." 9606.ENSP00000471700,FKBP8,413,"Peptidyl-prolyl cis-trans isomerase FKBP8; Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis." 9606.ENSP00000471735,MPND,501,"MPN domain-containing protein; Probable protease (By similarity). Acts as a sensor of N(6)- methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its degradation. Belongs to the peptidase M67 family." 9606.ENSP00000471754,ZNF480,535,Zinc finger protein 480; Involved in transcriptional regulation as an activator. 9606.ENSP00000471851,ADAMTS10,1103,A disintegrin and metalloproteinase with thrombospondin motifs 10; Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues. 9606.ENSP00000471894,HAMP,84,"Hepcidin-20; Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes. Belongs to the hepcidin family." 9606.ENSP00000471896,IRF3,452,Interferon regulatory factor 3; Key transcriptional regulator of type I interferon (IFN)- dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction. Found in an inactive [...] 9606.ENSP00000471921,SPIB,262,"Transcription factor Spi-B; Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC precursors (pre-DC2) or natural interferon (IFN)-producing cells. These cells have the capacity to produce large amounts of interferon and block viral replication. May be required for B-cell receptor (BCR) signaling, which is necessary for normal B-cell development and antigenic stimulation." 9606.ENSP00000471932,TMEM185A,350,Transmembrane protein 185A; Belongs to the TMEM185 family. 9606.ENSP00000472109,TEAD2,451,"Transcriptional enhancer factor TEF-4; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] " 9606.ENSP00000472118,MAGED4,757,MAGE family member D4. 9606.ENSP00000472124,NOTCH2NLB,249,"Notch homolog 2 N-terminal-like protein B; Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway. Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production. Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect. Enhances Notch signal [...] " 9606.ENSP00000472152,M0R1W7_HUMAN,72,Uncharacterized protein. 9606.ENSP00000472160,M0R1X1_HUMAN,148,KRAB domain-containing protein. 9606.ENSP00000472249,GMFG,142,Glia maturation factor gamma. 9606.ENSP00000472277,M0R233_HUMAN,179,KRAB domain-containing protein. 9606.ENSP00000472305,ZNF358,568,Zinc finger protein 358; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000472308,TEX101,267,Testis-expressed protein 101; Plays a role in fertilization by controlling binding of sperm to zona pellucida and migration of spermatozoa into the oviduct (By similarity). May play a role in signal transduction and promote protein tyrosine phosphorylation (By similarity). 9606.ENSP00000472316,OPN1MW,364,"Opsin 1, medium wave sensitive." 9606.ENSP00000472409,ARL14EPL,152,ARL14 effector protein-like; ADP ribosylation factor like GTPase 14 effector protein like. 9606.ENSP00000472415,M0R296_HUMAN,226,Uncharacterized protein. 9606.ENSP00000472421,FAM71E1,247,Protein FAM71E1; Family with sequence similarity 71 member E1. 9606.ENSP00000472445,POLD1,1133,"DNA polymerase delta catalytic subunit; As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities. Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proo [...] " 9606.ENSP00000472465,SARS2-2,588,Uncharacterized protein. 9606.ENSP00000472467,CXCL17,119,"C-X-C motif chemokine 17; Chemokine that acts as chemoattractant for monocytes, macrophages and dendritic cells. Plays a role in angiogenesis and possibly in the development of tumors. Acts as an anti-inflammatory in the stomach. May play a role in the innate defense against infections. Activates the C-X-C chemokine receptor GPR35 to induce a rapid and transient rise in the level of intracellular calcium ions. Belongs to the intercrine alpha (chemokine CxC) family." 9606.ENSP00000472469,RPS28,69,Ribosomal protein S28; Belongs to the eukaryotic ribosomal protein eS28 family. 9606.ENSP00000472474,IL4I1,589,L-amino-acid oxidase; Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity). 9606.ENSP00000472530,NXF2B,626,Nuclear RNA export factor 2; Involved in the export of mRNA from the nucleus to the cytoplasm; Belongs to the NXF family. 9606.ENSP00000472546,PLA2G4C,551,Cytosolic phospholipase A2 gamma; Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid. 9606.ENSP00000472619,ZNF83,516,Zinc finger protein 83; May be involved in transcriptional regulation. 9606.ENSP00000472620,C5AR2,337,"C5a anaphylatoxin chemotactic receptor 2; Receptor for the chemotactic and inflammatory C3a, C4a and C5a anaphylatoxin peptides and also for their dearginated forms ASP/C3adesArg, C4adesArg and C5adesArg respectively. Couples weakly to G(i)-mediated signaling pathways; Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000472681,ASCL5,206,Achaete-scute homolog 5; Achaete-scute family bHLH transcription factor 5. 9606.ENSP00000472698,M0R2N6_HUMAN,131,XRCC1_N domain-containing protein. 9606.ENSP00000472710,M0R2P5_HUMAN,195,Glyco_hydro_38N domain-containing protein. 9606.ENSP00000472749,TMSB15B-2,45,Thymosin beta 15B. 9606.ENSP00000472802,ZNF446,450,Zinc finger protein 446; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000472808,ZNF473,871,"Zinc finger protein 473; Involved in histone 3'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases." 9606.ENSP00000472836,KXD1,176,"KxDL motif-containing protein 1; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. May be involved in the biogenesis of lysosome- related organelles such as melanosomes (By similarity). Belongs to the KXD1 family." 9606.ENSP00000472847,SARS2,520,"Serine--tRNA ligase, mitochondrial; Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec)." 9606.ENSP00000472867,ZIK1,487,Zinc finger protein interacting with ribonucleoprotein K; May be a transcriptional repressor. 9606.ENSP00000472894,M0R2Z0_HUMAN,102,KRAB domain-containing protein. 9606.ENSP00000472914,SUGP2,1096,SURP and G-patch domain-containing protein 2; May play a role in mRNA splicing. 9606.ENSP00000472919,ERVV-2,535,"Endogenous retrovirus group V member 2, envelope; Belongs to the gamma type-C retroviral envelope protein family." 9606.ENSP00000472929,VAV1,845,"Proto-oncogene vav; Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation." 9606.ENSP00000472959,ZNF730,503,Putative zinc finger protein 730; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000472969,ZNF99,864,Zinc finger protein 99; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000472985,RPS5,204,"40S ribosomal protein S5, N-terminally processed; Ribosomal protein S5; Belongs to the universal ribosomal protein uS7 family." 9606.ENSP00000472998,SNRNP70,437,"U1 small nuclear ribonucleoprotein 70 kDa; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRNP70 binds to the loop I region of U1-snRNA. [Isoform 4]: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA." 9606.ENSP00000473001,FCHO1,891,F-BAR domain only protein 1; Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors. 9606.ENSP00000473036,PNMA8B,635,Paraneoplastic antigen-like protein 8B; PNMA family member 8B. 9606.ENSP00000473047,KLK11,282,"Kallikrein-11 inactive chain 1; Possible multifunctional protease. Efficiently cleaves 'bz- Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Cleaves synthetic peptides after arginine but not lysine residues." 9606.ENSP00000473056,ENSP00000473056,46,Novel protein. 9606.ENSP00000473091,ZNF320,509,Zinc finger protein 320; May be involved in transcriptional regulation. 9606.ENSP00000473093,MAGEA3,314,Melanoma-associated antigen 3; Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. 9606.ENSP00000473153,ERVV-1,477,"Endogenous retrovirus group V member 1, envelope; Belongs to the gamma type-C retroviral envelope protein family." 9606.ENSP00000473159,FFAR2,330,"Free fatty acid receptor 2; G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin- sensitive, G(i/o)-alpha f [...] " 9606.ENSP00000473163,F231L_HUMAN,169,FAM231A/C-like protein LOC102723383; Belongs to the FAM231 family. 9606.ENSP00000473172,RUVBL2,463,RuvB-like 2; Possesses single-stranded DNA-stimulated ATPase and ATP- dependent DNA helicase (5' to 3') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring- like structure contribute to the ATPase activity. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively re [...] 9606.ENSP00000473185,SELENOW,87,Selenoprotein W; Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity); Belongs to the SelWTH family. Selenoprotein W subfamily. 9606.ENSP00000473194,ZNF334,703,Zinc finger protein 334; May be involved in transcriptional regulation. 9606.ENSP00000473200,M0R3G1_HUMAN,203,Prp18 domain-containing protein. 9606.ENSP00000473212,GPR42,346,"G-protein coupled receptor 42; Probable G protein-coupled receptor that may be activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity." 9606.ENSP00000473233,M0R3H8_HUMAN,397,ETS domain-containing protein. 9606.ENSP00000473238,SIGLEC5,551,Sialic acid binding Ig like lectin 5. 9606.ENSP00000473290,NELFCD,599,"Negative elongation factor C/D; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. Belongs to the NELF-D family." 9606.ENSP00000473348,H6PD,802,"GDH/6PGL endoplasmic bifunctional protein; Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate pathway. In addition, acts as a 6-phosphogluconola [...] " 9606.ENSP00000473361,FXYD4,89,FXYD domain containing ion transport regulator 4. 9606.ENSP00000473370,MEI4,385,"Meiosis-specific protein MEI4; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis." 9606.ENSP00000473381,OAZ1,228,"Ornithine decarboxylase antizyme 1; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin- independent proteolytic destruction by the 26S proteasome. Triggers ODC degradation by inducing the exposure of a cryptic proteasome- interacting surface of ODC. Stabilizes AZIN2 by interfering with its ubiquitination. Also inhibits cellular [...] " 9606.ENSP00000473383,FBLL1,334,rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1; S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Also acts as a protein methyltransferase by mediating methylation of glutamine residues (By similarity). 9606.ENSP00000473391,COMMD3-BMI1,469,COMMD3-BMI1 readthrough. 9606.ENSP00000473444,MFSD14C,150,Hippocampus abundant transcript-like protein 2; Major facilitator superfamily domain containing 14C. 9606.ENSP00000473469,DENND4C,1958,"DENN domain-containing protein 4C; Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin." 9606.ENSP00000473474,SDR42E2,422,"Short chain dehydrogenase/reductase family 42E, member 2; Belongs to the 3-beta-HSD family." 9606.ENSP00000473493,MAGEB5,275,Melanoma-associated antigen B5; MAGE family member B5. 9606.ENSP00000473553,CSNK2A3,391,"Casein kinase II subunit alpha 3; Probable catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Amplification-dependent oncogene; promotes cell proliferation and tumorigenesis by down-regulating expression of the tumor suppressor protein, PML. May play a role in the pathogenesis of the lung cancer development and progression." 9606.ENSP00000473623,UBE2E3,207,"Ubiquitin-conjugating enzyme E2 E3; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest." 9606.ENSP00000473631,DNAJC3,504,"DnaJ homolog subfamily C member 3; Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF- 2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF [...] " 9606.ENSP00000473665,SBNO1,1393,Strawberry notch homolog 1. 9606.ENSP00000473686,MTRNR2L6,24,Humanin-like 6; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000473842,EBLN1,366,Endogenous Bornavirus-like nucleoprotein 1; May act as an RNA-binding protein. Highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes (By similarity). 9606.ENSP00000473853,MMP28,520,Matrix metalloproteinase-28; Can degrade casein. Could play a role in tissues homeostasis and repair. 9606.ENSP00000473871,URGCP-MRPS24,110,URGCP-MRPS24 readthrough. 9606.ENSP00000473929,FXYD3,144,"FXYD domain-containing ion transport regulator 3; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. [Isoform 2]: Decreases the apparent K+ affinity of the sodium/potassium-transporting ATPase only at slightly negative and positive membrane potentials and increases the app [...] " 9606.ENSP00000473941,HEATR9,570,Protein HEATR9; HEAT repeat containing 9. 9606.ENSP00000473980,MRPL37,483,Mitochondrial ribosomal protein L37; Belongs to the mitochondrion-specific ribosomal protein mL37 family. 9606.ENSP00000473990,ALDH3B1,468,"Aldehyde dehydrogenase family 3 member B1; Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. Can use both NADP(+) and NAD(+) as electron acceptor. May have a protective role against the cytotoxicity induced by lipid peroxidation." 9606.ENSP00000474003,TRIM77,450,Tripartite motif containing 77; Belongs to the TRIM/RBCC family. 9606.ENSP00000474032,DYNC2LI1,352,"Cytoplasmic dynein 2 light intermediate chain 1; Required for correct intraflagellar transport (IFT), the bi- directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length." 9606.ENSP00000474071,CCDC120,696,"Coiled-coil domain-containing protein 120; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells. Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly. Recruits NIN and CEP170 to centrosomes. Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth." 9606.ENSP00000474090,UPP2,374,"Uridine phosphorylase 2; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5- fluoro-2(')-deoxyuridine as substrates." 9606.ENSP00000474096,TAF15,592,TATA-binding protein-associated factor 2N; RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Can enter the preinitiation complex together with the RNA polymerase II (Pol II). 9606.ENSP00000474135,IGHV3-11,116,"Immunoglobulin heavy variable 3-11; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] " 9606.ENSP00000474182,LEKR1,132,"Leucine-, glutamate- and lysine-rich protein 1; Leucine, glutamate and lysine rich 1." 9606.ENSP00000474204,CTAGE15,777,CTAGE family member 15. 9606.ENSP00000474230,RASL10B,203,Ras-like protein family member 10B; May facilitate the release of atrial natriuretic peptide by cardiomyocytes and hence play a role in the regulation of arterial pressure; Belongs to the small GTPase superfamily. Ras family. 9606.ENSP00000474246,IZUMO3,233,Izumo sperm-egg fusion protein 3; IZUMO family member 3. 9606.ENSP00000474253,SETD1B,1966,"Histone-lysine N-methyltransferase SETD1B; Histone methyltransferase that specifically methylates 'Lys- 4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro; Belongs t [...] " 9606.ENSP00000474279,S4R3F8_HUMAN,94,Uncharacterized protein. 9606.ENSP00000474385,ADAM21,722,Disintegrin and metalloproteinase domain-containing protein 21; May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients. 9606.ENSP00000474388,CTAGE6,777,CTAGE family member 6. 9606.ENSP00000474412,CCL5,91,"C-C motif chemokine 5; Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1-infection. The second [...] " 9606.ENSP00000474456,NBPF1,1139,Neuroblastoma breakpoint family member 1; NBPF member 1; Belongs to the NBPF family. 9606.ENSP00000474487,LIX1L,337,LIX1-like protein; Limb and CNS expressed 1 like; Belongs to the LIX1 family. 9606.ENSP00000474529,GAS2L2,880,"GAS2-like protein 2; Involved in the cross-linking of microtubules and microfilaments. Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers. Enhances ADORA2- mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway." 9606.ENSP00000474534,HSPE1-MOB4,261,HSPE1-MOB4 readthrough; Belongs to the GroES chaperonin family. 9606.ENSP00000474560,HADH,331,"Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3- hydroxybutyryl-CoA; Belongs to the 3-hydroxyacyl-CoA dehydrogenase family." 9606.ENSP00000474570,MTRNR2L13,24,Humanin-like 13; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000474621,SLC22A31,338,Putative solute carrier family 22 member 31; Organic anion transporter that mediates the uptake of ions. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 9606.ENSP00000474720,ARMCX5,558,Armadillo repeat containing X-linked 5. 9606.ENSP00000474725,FBXW7,707,"F-box/WD repeat-containing protein 7; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination. Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1. Acts as a negative regulator of JNK signaling by bindi [...] " 9606.ENSP00000474823,RNF103-CHMP3,251,RNF103-CHMP3 readthrough. 9606.ENSP00000474850,TRIM49D1,452,Tripartite motif containing 49D1; Belongs to the TRIM/RBCC family. 9606.ENSP00000474861,MTRNR2L11,24,Humanin-like 11; Plays a role as a neuroprotective and antiapoptotic factor. Belongs to the humanin family. 9606.ENSP00000474988,TPBGL,382,Trophoblast glycoprotein like. 9606.ENSP00000475025,TLCD4-RWDD3,201,TLCD4-RWDD3 readthrough. 9606.ENSP00000475028,UGT2A2,536,UDP-glucuronosyltransferase 2A1; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium; Belongs to the UDP-glycosyltransferase family. 9606.ENSP00000475068,SMAGP,97,Small cell adhesion glycoprotein; May play a role in epithelial cell-cell contacts. May play a role in tumor invasiveness and metastasis formation. 9606.ENSP00000475107,IGHV3OR16-9,96,Immunoglobulin heavy variable 3/OR16-9. 9606.ENSP00000475146,C17orf50,174,Uncharacterized protein C17orf50; Chromosome 17 open reading frame 50. 9606.ENSP00000475168,RER1,196,Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment; Belongs to the RER1 family. 9606.ENSP00000475189,ANKRD34A,496,Ankyrin repeat domain 34A. 9606.ENSP00000475216,KPRP,579,Keratinocyte proline rich protein. 9606.ENSP00000475224,ASDURF,96,ASNSD1 upstream reading frame. 9606.ENSP00000475261,A3GALT2,340,"Alpha-1,3-galactosyltransferase 2; Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures. Belongs to the glycosyltransferase 6 family." 9606.ENSP00000475270,LCE1C,118,Late cornified envelope protein 1C; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family. 9606.ENSP00000475344,APLNR,380,"Apelin receptor; Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity. Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coro [...] " 9606.ENSP00000475384,U3KPZ7_HUMAN,1027,Uncharacterized protein. 9606.ENSP00000475473,CHURC1,140,Protein Churchill; Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself; Belongs to the Churchill family. 9606.ENSP00000475489,MPHOSPH9,1183,M-phase phosphoprotein 9. 9606.ENSP00000475615,CWC15,229,Spliceosome-associated protein CWC15 homolog; Involved in pre-mRNA splicing as component of the spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. 9606.ENSP00000475626,DUSP13,334,"Dual specificity protein phosphatase 13 isoform B; Dual specificity phosphatase that dephosphorylates MAPK8/JNK and MAPK14/p38, but not MAPK1/ERK2, in vitro. Exhibits intrinsic phosphatase activity towards both phospho-seryl/threonyl and -tyrosyl residues, with similar specific activities in vitro." 9606.ENSP00000475641,U3KQ87_HUMAN,197,Uncharacterized protein. 9606.ENSP00000475700,TM2D1,207,TM2 domain-containing protein 1; May participate in amyloid-beta-induced apoptosis via its interaction with beta-APP42. 9606.ENSP00000475724,CSNK1G1,475,Casein kinase I isoform gamma-1; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. 9606.ENSP00000475727,TBC1D7,293,"TBC1 domain family member 7; Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is un [...] " 9606.ENSP00000475750,HEBP2,205,Heme-binding protein 2; Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions. 9606.ENSP00000475814,H2AC19,130,H2A clustered histone 19. 9606.ENSP00000475845,CDC42SE1,79,"CDC42 small effector protein 1; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T- cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages; Belongs to the CDC42SE/SPEC family." 9606.ENSP00000475915,CNKSR3,555,Connector enhancer of kinase suppressor of ras 3; Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC- regulatory complex (ERC). 9606.ENSP00000475924,POLDIP2,368,"Polymerase delta-interacting protein 2; Involved in DNA damage tolerance by regulating translesion synthesis (TLS) of templates carrying DNA damage lesions such as 8oxoG and abasic sites. May act by stimulating activity of DNA polymerases involved in TLS, such as PRIMPOL and polymerase delta (POLD1)." 9606.ENSP00000475939,DNAH11,4516,"Dynein heavy chain 11, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP." 9606.ENSP00000475957,U3KQK5_HUMAN,164,Uncharacterized protein. 9606.ENSP00000475986,ACYP2,172,Acylphosphatase-2; Its physiological role is not yet clear. 9606.ENSP00000476091,U3KQP1_HUMAN,246,Uncharacterized protein. 9606.ENSP00000476100,GTF2H5,71,"General transcription factor IIH subunit 5; Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFII [...] " 9606.ENSP00000476117,WDR18,432,"WD repeat-containing protein 18; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit ; Belongs to the WD repeat IPI3/WDR18 family." 9606.ENSP00000476119,NUDT3,172,"Diphosphoinositol polyphosphate phosphohydrolase 1; Cleaves a beta-phosphate from the diphosphate groups in PP- InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. InsP6 (inositol hexakisphosphate) is not a substrate. Acts as a negative regulator of the ERK1/2 pathway. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able t [...] " 9606.ENSP00000476136,H2BC11,126,"Histone H2B type 1-J; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000476140,UQCC2,126,Ubiquinol-cytochrome-c reductase complex assembly factor 2; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability. 9606.ENSP00000476141,MT1HL1,61,Metallothionein 1H-like protein 1; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family. 9606.ENSP00000476145,FRK,505,"Tyrosine-protein kinase FRK; Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor." 9606.ENSP00000476176,SLC37A4,451,"Glucose-6-phosphate exchanger SLC37A4; Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels; Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family." 9606.ENSP00000476225,U3KQU4_HUMAN,50,Uncharacterized protein. 9606.ENSP00000476228,SIRT5,310,"NAD-dependent protein deacylase sirtuin-5, mitochondrial; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Activates SHMT2 by mediating its desuccinyla [...] " 9606.ENSP00000476252,U3KQV3_HUMAN,271,PPM-type phosphatase domain-containing protein. 9606.ENSP00000476253,SRRM5,715,Serine/arginine repetitive matrix 5. 9606.ENSP00000476295,CDYL2,506,Chromodomain Y like 2. 9606.ENSP00000476312,BHLHA15,189,"Class A basic helix-loop-helix protein 15; Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expressio [...] " 9606.ENSP00000476369,FBXW2,454,F-box/WD repeat-containing protein 2; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. 9606.ENSP00000476384,SCX,201,"Basic helix-loop-helix transcription factor scleraxis; Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages." 9606.ENSP00000476386,DCP1A,582,"mRNA-decapping enzyme 1A; Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP. Contributes to the transactivation of target genes after stimulation by TGFB1; Belongs to the DCP1 family." 9606.ENSP00000476412,CHMP4A,265,"Charged multivesicular body protein 4a; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] " 9606.ENSP00000476480,NT5C3A,331,Cytosolic 5'-nucleotidase 3A; Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP). CMP seems to be the preferred substrate ; Belongs to the pyrimidine 5'-nucleotidase family. 9606.ENSP00000476499,ZBTB8B,495,Zinc finger and BTB domain-containing protein 8B; May be involved in transcriptional regulation. 9606.ENSP00000476510,LYPD4,246,LY6/PLAUR domain containing 4. 9606.ENSP00000476519,KCNN1,543,Small conductance calcium-activated potassium channel protein 1; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity); Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily. 9606.ENSP00000476603,GPRIN3,776,G protein-regulated inducer of neurite outgrowth 3; May be involved in neurite outgrowth. 9606.ENSP00000476672,RPEL1,228,Ribulose-phosphate 3-epimerase-like protein 1; Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate; Belongs to the ribulose-phosphate 3-epimerase family. 9606.ENSP00000476742,V9GYH0_HUMAN,126,Homeobox domain-containing protein. 9606.ENSP00000476746,ZBTB25,435,Zinc finger and BTB domain-containing protein 25; May be involved in transcriptional regulation. 9606.ENSP00000476792,RTL5,569,Retrotransposon Gag like 5. 9606.ENSP00000476815,SLC25A16,332,Graves disease carrier protein; Required for the accumulation of coenzyme A in the mitochondrial matrix; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000476820,TRABD2B,517,"Metalloprotease TIKI2; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation; Belongs to the TIKI family." 9606.ENSP00000476821,KRTAP10-7,370,"Keratin-associated protein 10-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family." 9606.ENSP00000476948,RPAP2,612,"Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated 'Ser-7' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD, thereby promoting transcription of snRNA genes; Belongs to the RPAP2 family." 9606.ENSP00000477006,V9GYQ6_HUMAN,96,Uncharacterized protein. 9606.ENSP00000477014,OR8G5,346,Olfactory receptor 8G5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000477017,SMIM5,77,Small integral membrane protein 5. 9606.ENSP00000477037,V9GYS4_HUMAN,31,Uncharacterized protein. 9606.ENSP00000477043,V9GYS6_HUMAN,101,KRAB domain-containing protein. 9606.ENSP00000477059,XKR7,579,XK-related protein 7; XK related 7. 9606.ENSP00000477118,V9GYV3_HUMAN,84,Uncharacterized protein. 9606.ENSP00000477141,FRRS1L,344,DOMON domain-containing protein FRRS1L; Important modulator of glutamate signaling pathway. 9606.ENSP00000477213,APBB1,710,"Amyloid-beta A4 precursor protein-binding family B member 1; Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1 [...] " 9606.ENSP00000477259,OR8J1,316,Olfactory receptor 8J1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000477297,V9GZ13_HUMAN,50,Uncharacterized protein. 9606.ENSP00000477310,DYNLL2,89,"Dynein light chain 2, cytoplasmic; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity); Belongs to the dynein light chain family." 9606.ENSP00000477314,PCDHB16,776,Protocadherin beta-16; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000477341,PPM1K,372,"Protein phosphatase 1K, mitochondrial; Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development." 9606.ENSP00000477344,SYT6,425,Synaptotagmin-6; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)-regulation of exocytosis in acrosomal reaction in sperm (By similarity). 9606.ENSP00000477352,SCOC,159,Short coiled-coil protein; Positive regulator of amino acid starvation-induced autophagy; Belongs to the SCOC family. 9606.ENSP00000477381,V9GZ38_HUMAN,251,Uncharacterized protein. 9606.ENSP00000477392,ZNF595,648,Zinc finger protein 595; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000477437,KCNJ6,423,"G protein-activated inward rectifier potassium channel 2; This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G- protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due t [...] " 9606.ENSP00000477445,OR10G6,332,Olfactory receptor 10G6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000477455,GRIN2B,1484,"Glutamate receptor ionotropic, NMDA 2B; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. [...] " 9606.ENSP00000477502,NOMO2,1267,"Nodal modulator 2; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN." 9606.ENSP00000477507,RIOX1,641,"Ribosomal oxygenase 1; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys- 4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His- 216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OS [...] " 9606.ENSP00000477509,NBPF11,865,Neuroblastoma breakpoint family member 11; NBPF member 11; Belongs to the NBPF family. 9606.ENSP00000477515,DGKK,1271,Diacylglycerol kinase kappa; Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). 9606.ENSP00000477527,H2BC17,126,"Histone H2B type 1-O; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000477530,F8A3,371,Coagulation factor VIII associated 3. 9606.ENSP00000477538,NAP1L1,391,Nucleosome assembly protein 1-like 1; Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity). 9606.ENSP00000477548,HCRTR2,444,"Orexin receptor type 2; Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides. Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding." 9606.ENSP00000477563,MR1,341,Major histocompatibility complex class I-related gene protein; Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T- cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent. 9606.ENSP00000477567,CYP4F8,520,"Cytochrome P450 4F8; A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs) and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes the hydroxylation of carbon hydrogen bonds, with preference for omega-1 and omega-2 positions. Hydroxylates (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) predomi [...] " 9606.ENSP00000477572,HMOX2,370,"Heme oxygenase 2; Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter." 9606.ENSP00000477587,SRD5A2,254,3-oxo-5-alpha-steroid 4-dehydrogenase 2; Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5- alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. 9606.ENSP00000477590,CPNE3,537,Copine-3; Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation. Belongs to the copine family. 9606.ENSP00000477597,MROH2A,1688,Maestro heat like repeat family member 2A. 9606.ENSP00000477602,ELOVL1,279,"Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain leng [...] " 9606.ENSP00000477613,BIRC2,618,"Baculoviral IAP repeat-containing protein 2; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non- canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target protein [...] " 9606.ENSP00000477627,TMC4,712,Transmembrane channel-like protein 4; Probable ion channel. 9606.ENSP00000477639,NAGK,390,"N-acetyl-D-glucosamine kinase; Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N- glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity." 9606.ENSP00000477648,LYNX1,116,"Ly-6/neurotoxin-like protein 1; Acts in different tissues through interaction to nicotinic acetylcholine receptors (nAChRs). The proposed role as modulator of nAChR activity seems to be dependent on the nAChR subtype and stoichiometry, and to involve an effect on nAChR trafficking and its cell surface expression, and on single channel properties of the nAChR inserted in the plasma membrane. Modulates functional properties of nicotinic acetylcholine receptors (nAChRs) to prevent excessive excitation, and hence neurodegeneration. Enhances desensitization by increasing both the rate and e [...] " 9606.ENSP00000477653,DUSP14,198,"Dual specificity protein phosphatase 14; Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily." 9606.ENSP00000477654,C18orf54,533,Chromosome 18 open reading frame 54. 9606.ENSP00000477679,TBC1D3F,495,TBC1 domain family member 3F. 9606.ENSP00000477695,ANKRD20A1,823,Ankyrin repeat domain-containing protein 20A1; Ankyrin repeat domain 20 family member A1. 9606.ENSP00000477706,ZNF316,1004,Zinc finger protein 316; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000477707,NR1H3,453,"Oxysterols receptor LXR-alpha; Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity. Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (By similarity). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol up [...] " 9606.ENSP00000477713,LCK,509,"Tyrosine-protein kinase Lck; Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T- cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors. Association of the TCR with a peptide antigen- bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein [...] " 9606.ENSP00000477715,CPEB1,561,"Cytoplasmic polyadenylation element-binding protein 1; Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'- UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism. In absence of phosphorylation and in association with TACC3 is also involved as a repressor of tra [...] " 9606.ENSP00000477716,ZNF8,575,"Zinc finger protein 8; Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins. Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000477725,KANK1,1352,KN motif and ankyrin repeat domain-containing protein 1; Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronecti [...] 9606.ENSP00000477760,ANAPC16,110,"Anaphase-promoting complex subunit 16; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC16 family." 9606.ENSP00000477781,TPT1,197,Translationally-controlled tumor protein; Involved in calcium binding and microtubule stabilization. 9606.ENSP00000477792,LRRC41,812,Leucine-rich repeat-containing protein 41; Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000477796,GCH1,250,"GTP cyclohydrolase 1; Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. Belongs to the GTP cyclohydrolase I family." 9606.ENSP00000477802,C1orf158,194,Uncharacterized protein C1orf158; Chromosome 1 open reading frame 158. 9606.ENSP00000477815,PTCRA,296,"Pre T-cell antigen receptor alpha; The pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) regulates early T-cell development." 9606.ENSP00000477817,PTPDC1,808,Protein tyrosine phosphatase domain-containing protein 1; May play roles in cilia formation and/or maintenance. Belongs to the protein-tyrosine phosphatase family. Non- receptor class PTPDC1 subfamily. 9606.ENSP00000477829,LHX1,406,LIM/homeobox protein Lhx1; Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis. 9606.ENSP00000477841,ZNF282,671,Zinc finger protein 282; Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5'- TCCACCCC-3' sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000477846,CLEC18C,446,"C-type lectin domain family 18 member C; Binds polysaccharidesin a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans." 9606.ENSP00000477848,AATF,560,"Protein AATF; May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been desc [...] " 9606.ENSP00000477856,GGTLC3,225,Gamma-glutamyltransferase light chain family member 3. 9606.ENSP00000477868,TOX4,621,"TOX high mobility group box family member 4; Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase." 9606.ENSP00000477870,H4C7,98,"Histone H4-like protein type G; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity)." 9606.ENSP00000477871,TMEM265,108,Transmembrane protein 265. 9606.ENSP00000477875,KCNE1B,132,Potassium voltage-gated channel subfamily E regulatory subunit 1B. 9606.ENSP00000477878,ARID3B,561,AT-rich interactive domain-containing protein 3B; Transcription factor which may be involved in neuroblastoma growth and malignant transformation. Favors nuclear targeting of ARID3A. 9606.ENSP00000477907,H2BC14,126,"Histone H2B type 1-M; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000477908,CCL3,92,"C-C motif chemokine 3; Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose- dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV); Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000477920,GIMAP1-GIMAP5,511,GIMAP1-GIMAP5 readthrough. 9606.ENSP00000477922,SSX2B,223,SSX family member 2B. 9606.ENSP00000477973,STAG3,1226,"Cohesin subunit SA-3; Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I." 9606.ENSP00000477979,NBPF9,1111,Neuroblastoma breakpoint family member 9; NBPF member 9; Belongs to the NBPF family. 9606.ENSP00000477981,SLC25A14,353,Brain mitochondrial carrier protein 1; Participates in the mitochondrial proton leak measured in brain mitochondria; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000477999,NOS1,1468,"Nitric oxide synthase, brain; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR; Belongs to the NOS family." 9606.ENSP00000478017,HNRNPCL3,293,Heterogeneous nuclear ribonucleoprotein C like 3. 9606.ENSP00000478024,CCL16,120,"C-C motif chemokine 16; Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES." 9606.ENSP00000478026,ANXA8,365,Annexin A8. 9606.ENSP00000478035,LOC107987373,153,"39S ribosomal protein L23, mitochondrial." 9606.ENSP00000478059,STIM1,791,"Stromal interaction molecule 1; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release- activated Ca(2+) (CRAC) channel subunit ORAI1. Involved in enamel formation. Activated following interaction with STIMATE, leading to promote STIM1 conformational switch." 9606.ENSP00000478061,MARCKS,332,"Myristoylated alanine-rich C-kinase substrate; MARCKS is the most prominent cellular substrate for protein kinase C. This protein binds calmodulin, actin, and synapsin. MARCKS is a filamentous (F) actin cross-linking protein." 9606.ENSP00000478070,CWC25,425,Pre-mRNA-splicing factor CWC25 homolog; Involved in pre-mRNA splicing as component of the spliceosome; Belongs to the CWC25 family. 9606.ENSP00000478104,VPS13D,4388,"Vacuolar protein sorting-associated protein 13D; Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission. Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis." 9606.ENSP00000478121,ELOC,112,"Elongin-C; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important featur [...] " 9606.ENSP00000478179,CASP8AP2,1972,"CASP8-associated protein 2; Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase." 9606.ENSP00000478187,CRY2,614,"Cryptochrome-2; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal [...] " 9606.ENSP00000478212,AKAP1,903,"A-kinase anchor protein 1, mitochondrial; Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane." 9606.ENSP00000478220,GGNBP2,697,Gametogenetin-binding protein 2; May be involved in spermatogenesis. 9606.ENSP00000478249,ENSP00000478249,61,Uncharacterized protein. 9606.ENSP00000478253,MTHFD1L,979,"Monofunctional C1-tetrahydrofolate synthase, mitochondrial; May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2; In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family." 9606.ENSP00000478255,ABCB1,1280,"ATP-dependent translocase ABCB1; Translocates drugs and phospholipids across the membrane. Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins. Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells." 9606.ENSP00000478257,CCNI2,385,Cyclin-I2; Cyclin I family member 2. 9606.ENSP00000478258,PCDHGB5,923,Protocadherin gamma-B5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000478289,LOC102723407,117,"Immunoglobulin heavy variable 4-38-2; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, wh [...] " 9606.ENSP00000478290,SRGAP2C,459,"SLIT-ROBO Rho GTPase-activating protein 2C; Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory." 9606.ENSP00000478298,SPPL2B,592,"Signal peptide peptidase-like 2B; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. May play a role in the regulation of innate and adaptive immunity. Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependen [...] " 9606.ENSP00000478303,POLR2E,210,"DNA-directed RNA polymerases I, II, and III subunit RPABC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the [...] " 9606.ENSP00000478305,SMOX,585,"Spermine oxidase; Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal; Belongs to the flavin monoamine oxidase family." 9606.ENSP00000478345,ZNF714,555,Zinc finger protein 714; May be involved in transcriptional regulation. 9606.ENSP00000478352,GRIP2,1043,Glutamate receptor-interacting protein 2; May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons. 9606.ENSP00000478384,FOXI3,420,Forkhead box protein I3; Possible transcriptional factor. 9606.ENSP00000478388,NATD1,113,Protein NATD1; N-acetyltransferase domain containing 1. 9606.ENSP00000478396,TTI2,508,"TELO2-interacting protein 2; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs." 9606.ENSP00000478417,PPP6R2,959,Serine/threonine-protein phosphatase 6 regulatory subunit 2; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha; Belongs to the SAPS family. 9606.ENSP00000478426,TBC1D3D,549,TBC1 domain family member 3D; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000478458,PLCL2,1127,"Inactive phospholipase C-like protein 2; May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum." 9606.ENSP00000478473,TBC1D3B,549,TBC1 domain family member 3B; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000478474,UBE2F,185,"NEDD8-conjugating enzyme UBE2F; Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5." 9606.ENSP00000478478,GOLGA6L1,668,Golgin subfamily A member 6-like protein 1; Golgin A6 family like 1; Belongs to the GOLGA6 family. 9606.ENSP00000478479,RAB18,235,Ras-related protein Rab-18; Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration. 9606.ENSP00000478490,YTHDF3,588,"YTH domain-containing family protein 3; Specifically recognizes and binds N6-methyladenosine (m6A)- containing RNAs and promotes RNA translation efficiency. M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Shares m6A-containing mRNAs targets with YTHDF1 and YTHDF2, and regulates different processes depending on the context. Facilitates the translation of targeted mRNAs in cooperation with YTHDF1 by binding to m6A-containing mRNAs and interacting with 40S and 60S ribosome subu [...] " 9606.ENSP00000478501,ANAPC10,185,"Anaphase-promoting complex subunit 10; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains." 9606.ENSP00000478557,ZNF787,382,Zinc finger protein 787; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000478561,CYP1B1,543,"Cytochrome P450 1B1; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity towar [...] " 9606.ENSP00000478568,GAGE2E,110,G antigen 2E. 9606.ENSP00000478589,TTC25,672,"Tetratricopeptide repeat protein 25; Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility." 9606.ENSP00000478591,NEURL3,262,"E3 ubiquitin-protein ligase NEURL3; E3 ubiquitin-protein ligase. Seems to utilize UBE2E1. In vitro, generates polyubiquitin chains via non-canonical lysine residues suggesting that it is not involved in tagging substrates for proteasomal degradation." 9606.ENSP00000478600,P3H3,736,"Prolyl 3-hydroxylase 3; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it function [...] " 9606.ENSP00000478606,PCDHB9,797,Protocadherin beta-9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. 9606.ENSP00000478609,NBPF12,1457,Neuroblastoma breakpoint family member 12; NBPF member 12. 9606.ENSP00000478637,SYT16,645,Synaptotagmin-16; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent. 9606.ENSP00000478639,SLC1A7,619,Excitatory amino acid transporter 5; Transports L-glutamate; the L-glutamate uptake is sodium- and voltage-dependent and chloride-independent. Its associated chloride conductance may participate in visual processing. 9606.ENSP00000478645,ICA1L,482,Islet cell autoantigen 1 like. 9606.ENSP00000478671,CNTNAP3B,1288,Contactin-associated protein-like 3B; Contactin associated protein family member 3B; Belongs to the neurexin family. 9606.ENSP00000478672,RAG2,527,"V(D)J recombination-activating protein 2; Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T- cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the pho [...] " 9606.ENSP00000478683,TBC1D3,549,TBC1 domain family member 3; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11. 9606.ENSP00000478699,TNFRSF9,255,Tumor necrosis factor receptor superfamily member 9; Receptor for TNFSF9/4-1BBL. Possibly active during T cell activation. 9606.ENSP00000478721,RYK,610,"Tyrosine-protein kinase RYK; May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C-terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development; Belongs to the protein kinase superfamily. Tyr protein kinase family." 9606.ENSP00000478725,IGHV3-16,96,"Probable non-functional immunoglobulin heavy variable 3-16; Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin heavy chains. Non-functional ORF generally cannot participate to the synthesis of a productive immunoglobulin chain due to altered V- (D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bou [...] " 9606.ENSP00000478752,NBPF19-2,3843,Neuroblastoma breakpoint family member 19; Belongs to the NBPF family. 9606.ENSP00000478754,DDX6,483,"Probable ATP-dependent RNA helicase DDX6; In the process of mRNA degradation, plays a role in mRNA decapping. Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts. Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily." 9606.ENSP00000478755,SEC14L2,403,"SEC14-like protein 2; Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha- tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell." 9606.ENSP00000478763,SIRPA,508,"Tyrosine-protein phosphatase non-receptor type substrate 1; Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. May play a key role in intracellular signaling during synaptogenesis and in synaptic function (By similarity). Involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. Medi [...] " 9606.ENSP00000478766,NDUFC2-KCTD14,134,"NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2; NDUFC2-KCTD14 readthrough." 9606.ENSP00000478767,PPP1R9B,817,"Neurabin-2; Seems to act as a scaffold protein in multiple signaling pathways. Modulates excitatory synaptic transmission and dendritic spine morphology. Binds to actin filaments (F-actin) and shows cross- linking activity. Binds along the sides of the F-actin. May play an important role in linking the actin cytoskeleton to the plasma membrane at the synaptic junction. Believed to target protein phosphatase 1/PP1 to dendritic spines, which are rich in F-actin, and regulates its specificity toward ion channels and other substrates, such as AMPA-type and NMDA-type glutamate receptors. Pl [...] " 9606.ENSP00000478771,UBB,229,"Polyubiquitin-B; [Ubiquitin]: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair [...] " 9606.ENSP00000478783,LTN1,1812,"E3 ubiquitin-protein ligase listerin; E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. Ubiquitination leads to VCP/p97 recruitment for extraction and degradation of the incomplete translation product (By similarity)." 9606.ENSP00000478796,LOC102723502,581,POTE ankyrin domain family member B3. 9606.ENSP00000478830,TMPRSS7,717,Transmembrane protease serine 7; Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position; Belongs to the peptidase S1 family. 9606.ENSP00000478834,TEX28,410,Testis-specific protein TEX28; Testis expressed 28. 9606.ENSP00000478874,CAMK1D,385,"Calcium/calmodulin-dependent protein kinase type 1D; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium- mediated granulocyte function and respiratory burst and promotes basal dendritic growth of hippocampal neurons. In neutrophil cells, required for cytokine-induced proliferative responses and activation of the respiratory burst. Activates the transcription factor CREB1 in hippocampal neuron nuclei. May play a role in apoptosis of eryth [...] " 9606.ENSP00000478877,ADRM1,407,"Proteasomal ubiquitin receptor ADRM1; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engag [...] " 9606.ENSP00000478878,CPNE4,575,Copine-4; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes. Belongs to the copine family. 9606.ENSP00000478882,ENSP00000478882,176,annotation not available 9606.ENSP00000478886,C17orf78,275,Uncharacterized protein C17orf78; Chromosome 17 open reading frame 78. 9606.ENSP00000478887,MYC,454,"Myc proto-oncogene protein; Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis. Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity)." 9606.ENSP00000478892,GNAZ,355,Guanine nucleotide-binding protein G(z) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. 9606.ENSP00000478893,IGHD,384,"Immunoglobulin heavy constant delta; Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens. The antigen [...] " 9606.ENSP00000478910,MAFIP,129,MAFF interacting protein. 9606.ENSP00000478927,YAP1,508,"Transcriptional coactivator YAP1; Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncopro [...] " 9606.ENSP00000478931,AIFM2,373,"Ferroptosis suppressor protein 1; A NAD(P)H-dependent oxidoreductase involved in cellular oxidative stress response. At the plasma membrane, catalyzes reduction of coenzyme Q/ubiquinone-10 to ubiquinol-10, a lipophilic radical- trapping antioxidant that prevents lipid oxidative damage and consequently ferroptosis. Cooperates with GPX4 to suppress phospholipid peroxidation and ferroptosis. This anti-ferroptotic function is independent of cellular glutathione levels. May play a role in mitochondrial stress signaling. Upon oxidative stress, associates with the lipid peroxidation end produ [...] " 9606.ENSP00000478933,LOC102724488,444,Uncharacterized protein. 9606.ENSP00000478939,ZNF724-2,490,Zinc finger protein 724. 9606.ENSP00000478941,ENSP00000478941,522,Uncharacterized protein. 9606.ENSP00000478942,UPK1A,273,"Uroplakin-1a; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity); Belongs to the tetraspanin (TM4SF) family." 9606.ENSP00000478962,CBY1,169,Protein chibby homolog 1; Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta- catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation. Belongs to the chibby family. 9606.ENSP00000478982,RPP38,283,"Ribonuclease P protein subunit p38; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre- rRNA sequences. Belongs to the eukaryotic ribosomal protein eL8 family." 9606.ENSP00000478993,GPHB5,130,"Glycoprotein hormone beta-5; Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism; Belongs to the glycoprotein hormones subunit beta family." 9606.ENSP00000479032,IGKV1-33,108,"Immunoglobulin kappa variable 1-33; V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] " 9606.ENSP00000479060,CCDC28A,274,Coiled-coil domain containing 28A. 9606.ENSP00000479064,ENSP00000479064,110,Uncharacterized protein. 9606.ENSP00000479069,ELOA3B,546,"Elongin-A3 member B; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex)." 9606.ENSP00000479071,ZFAND6,208,AN1-type zinc finger protein 6; Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity). 9606.ENSP00000479089,OSCAR,286,Osteoclast-associated immunoglobulin-like receptor; Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation; Belongs to the leukocyte receptor complex/polymeric immunogobulin receptor (PIR/LRC) family. 9606.ENSP00000479097,CCL14,109,"C-C motif chemokine 14; Has weak activities on human monocytes and acts via receptors that also recognize MIP-1 alpha. It induces intracellular Ca(2+) changes and enzyme release, but no chemotaxis, at concentrations of 100-1,000 nM, and is inactive on T-lymphocytes, neutrophils, and eosinophil leukocytes. Enhances the proliferation of CD34 myeloid progenitor cells. The processed form HCC-1(9-74) is a chemotactic factor that attracts monocytes, eosinophils, and T-cells and is a ligand for CCR1, CCR3 and CCR5; Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000479104,SVOP,548,Synaptic vesicle 2-related protein; SV2 related protein. 9606.ENSP00000479106,H4C1,103,H4 clustered histone 1. 9606.ENSP00000479113,GABRG3,467,"Gamma-aminobutyric acid receptor subunit gamma-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub- subfamily." 9606.ENSP00000479119,IGHV1-3,95,"Immunoglobulin heavy variable 1-3; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which [...] " 9606.ENSP00000479130,ACSF3,576,"Malonate--CoA ligase ACSF3, mitochondrial; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates ; Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000479134,FMN1,1419,Formin-1; Plays a role in the formation of adherens junction and the polymerization of linear actin cables; Belongs to the formin homology family. Cappuccino subfamily. 9606.ENSP00000479139,LOC100288966,584,POTE ankyrin domain family member D-like. 9606.ENSP00000479153,EHD1,548,"EH domain-containing protein 1; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating [...] " 9606.ENSP00000479166,HOXA4,320,Homeobox protein Hox-A4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5'-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5'-TAATGA[CG]-3' and 5'-CTAATTTT-3'. 9606.ENSP00000479168,PRH1,187,Proline rich protein HaeIII subfamily 1. 9606.ENSP00000479169,H2BC9,126,"Histone H2B type 1-H; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000479202,ARL8B,186,"ADP-ribosylation factor-like protein 8B; Plays a role in lysosome motility. In neurons, mediates the anterograde axonal long- range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). May play a role in chromosome segregation." 9606.ENSP00000479203,HNRNPCL2,293,Heterogeneous nuclear ribonucleoprotein C-like 2; May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs. 9606.ENSP00000479207,GALNTL5,443,Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5; Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region. 9606.ENSP00000479216,UBXN8,270,"UBX domain-containing protein 8; Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction." 9606.ENSP00000479240,PINLYP,228,Phospholipase A2 inhibitor and LY6/PLAUR domain containing; Belongs to the CNF-like-inhibitor family. 9606.ENSP00000479243,ECSCR,205,Endothelial cell-specific chemotaxis regulator; Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2. Belongs to the ECSCR family. 9606.ENSP00000479248,JAKMIP2,820,Janus kinase and microtubule interacting protein 2; Belongs to the JAKMIP family. 9606.ENSP00000479256,TRIL,811,TLR4 interactor with leucine rich repeats; Component of the TLR4 signaling complex. Mediates the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion. 9606.ENSP00000479258,PANO1,215,Proapoptotic nucleolar protein 1; Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF. Enhances the stability of CDKN2A/p14ARF protein by protecting it from degradation. May act as a tumor suppressor. 9606.ENSP00000479261,UNC13B,1610,"Protein unc-13 homolog B; Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP) (By similarity). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). In collaboration with UNC13A, facilitates neuronal dense core vesicles fusion as well as controls t [...] " 9606.ENSP00000479266,BORA,634,Protein aurora borealis; Required for the activation of AURKA at the onset of mitosis. 9606.ENSP00000479284,H2BU1,126,"Histone H2B type 3-B; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000479291,NBPF20,5207,Neuroblastoma breakpoint family member 20; NBPF member 20; Belongs to the NBPF family. 9606.ENSP00000479319,CKLF-CMTM1,168,CKLF-CMTM1 readthrough. 9606.ENSP00000479322,CLIP1,1438,CAP-Gly domain-containing linker protein 1; Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking. 9606.ENSP00000479326,RIMBP3B,1639,"RIMS-binding protein 3B; Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development." 9606.ENSP00000479346,C1orf61,156,Protein CROC-4; May play a role in FOS signaling pathways involved in development and remodeling of neurons. Promotes transcription of the FOS promoter. 9606.ENSP00000479355,LENG9,478,Leukocyte receptor cluster member 9. 9606.ENSP00000479362,GOLGA6L10,522,Golgin subfamily A member 6-like protein 10; Golgin A6 family like 10; Belongs to the GOLGA6 family. 9606.ENSP00000479370,GUCD1,296,Protein GUCD1; Guanylyl cyclase domain containing 1. 9606.ENSP00000479373,ENSP00000479373,104,Uncharacterized protein. 9606.ENSP00000479378,LOC102723655,102,TP53-target gene 3 protein. 9606.ENSP00000479396,C17orf98,154,Uncharacterized protein C17orf98; Chromosome 17 open reading frame 98. 9606.ENSP00000479444,C10orf142,130,Uncharacterized protein C10orf142. 9606.ENSP00000479449,ZNF700,745,Zinc finger protein 700; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000479461,H4C4,103,H4 clustered histone 4. 9606.ENSP00000479488,PHB,272,Prohibitin; Prohibitin inhibits DNA synthesis. It has a role in regulating proliferation. As yet it is unclear if the protein or the mRNA exhibits this effect. May play a role in regulating mitochondrial respiration activity and in aging. 9606.ENSP00000479494,PCID2,453,"PCI domain-containing protein 2; Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation (By similarity). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (Probable). Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and transcription-associated genomic instability. R-loop accumulation does not increase in PCID2-depleted cells." 9606.ENSP00000479504,DDX52,599,Probable ATP-dependent RNA helicase DDX52; DExD-box helicase 52; Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily. 9606.ENSP00000479518,MYO19,970,Unconventional myosin-XIX; Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane. Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis. May be involved in mitochondrial transport or positioning. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. 9606.ENSP00000479526,DPF3,412,"Zinc finger protein DPF3; Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchange [...] " 9606.ENSP00000479536,CD177,437,"CD177 antigen; In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production. In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration. Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro. However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo. Acts as a receptor for the mature form of protea [...] " 9606.ENSP00000479542,KIZ,673,Centrosomal protein kizuna; Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole. Belongs to the kizuna family. 9606.ENSP00000479580,GIMAP6,362,"GTPase, IMAP family member 6." 9606.ENSP00000479586,LYNX1-SLURP2,131,LYNX1-SLURP2 readthrough. 9606.ENSP00000479598,RHNO1,238,"RAD9, HUS1, RAD1-interacting nuclear orphan protein 1; Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation." 9606.ENSP00000479606,CLTC,1679,Clathrin heavy chain 1; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans- Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. Plays a role in early autophagosome formation. 9606.ENSP00000479608,CT45A6,189,Cancer/testis antigen family 45 member A6. 9606.ENSP00000479617,UHRF1,806,"E3 ubiquitin-protein ligase UHRF1; Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylate [...] " 9606.ENSP00000479624,F8A1,371,Coagulation factor VIII associated 1. 9606.ENSP00000479636,PLCD3,789,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3; Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Essential for trophoblast and placental development. May participate in cytokinesis by hydrolyzing PIP2 at the cleavage furrow." 9606.ENSP00000479656,KRTAP7-1,87,"Keratin-associated protein 7-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 7 family." 9606.ENSP00000479664,AOAH,688,"Acyloxyacyl hydrolase large subunit; Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides. By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity)." 9606.ENSP00000479667,RPS6KA5,802,"Ribosomal protein S6 kinase alpha-5; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional act [...] " 9606.ENSP00000479669,CAB39L,337,"Calcium-binding protein 39-like; Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity)." 9606.ENSP00000479675,IGHV3-15,112,"Immunoglobulin heavy variable 3-15; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] " 9606.ENSP00000479679,KCP,1628,"Kielin/chordin-like protein; Enhances bone morphogenetic protein (BMP) signaling in a paracrine manner. In contrast, it inhibits both the activin-A and TGFB1-mediated signaling pathways (By similarity)." 9606.ENSP00000479693,NBPF14,2988,Neuroblastoma breakpoint family member 14; NBPF member 14. 9606.ENSP00000479708,MAL2,176,Protein MAL2; Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway. 9606.ENSP00000479716,DNAJC28,388,DnaJ homolog subfamily C member 28; May have a role in protein folding or as a chaperone. 9606.ENSP00000479719,CYFIP2,1278,"Cytoplasmic FMR1-interacting protein 2; Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity)." 9606.ENSP00000479730,LRCOL1,159,Leucine-rich colipase-like protein 1; Leucine rich colipase like 1. 9606.ENSP00000479735,RAPGEFL1,662,Rap guanine nucleotide exchange factor-like 1; Probable guanine nucleotide exchange factor (GEF). 9606.ENSP00000479745,PRSS56,603,Serine protease 56; Serine protease required during eye development. 9606.ENSP00000479757,GCSAML-AS1,320,Olfactory receptor 2C3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000479762,RAB7B,199,"Ras-related protein Rab-7b; Controls vesicular trafficking from endosomes to the trans- Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation [...] " 9606.ENSP00000479773,CFAP57,1283,Cilia and flagella associated protein 57. 9606.ENSP00000479794,H4C12,103,H4 clustered histone 12. 9606.ENSP00000479811,CNTNAP4,1308,"Contactin-associated protein-like 4; Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity)." 9606.ENSP00000479816,DENND1B,775,"DENN domain-containing protein 1B; Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells. Acts by promoting the exchange of GDP to GTP, converting inactive GDP- bound RAB35 into its active GTP-bound form. Plays a role in clathrin-mediated endocytosis. Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity. Dysregul [...] " 9606.ENSP00000479844,RASGRP4,673,RAS guanyl-releasing protein 4; Functions as a cation- and diacylglycerol (DAG)-regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. May function in mast cells differentiation. Belongs to the RASGRP family. 9606.ENSP00000479850,ALG1L2,215,Putative glycosyltransferase ALG1L2; Putative glycosyltransferase. 9606.ENSP00000479860,CIB1,231,"Calcium and integrin-binding protein 1; Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin- mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulat [...] " 9606.ENSP00000479861,SEPTIN2,396,"Septin-2; Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar- shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffo [...] " 9606.ENSP00000479870,ALOX5AP,218,"Arachidonate 5-lipoxygenase-activating protein; Required for leukotriene biosynthesis by ALOX5 (5- lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes; Belongs to the MAPEG family." 9606.ENSP00000479884,ZNF229,825,Zinc finger protein 229; May be involved in transcriptional regulation. 9606.ENSP00000479889,IRAK4,460,"Interleukin-1 receptor-associated kinase 4; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor- signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquit [...] " 9606.ENSP00000479904,ZMYM2,1377,Zinc finger MYM-type protein 2; May function as a transcription factor. 9606.ENSP00000479910,MLLT6,1093,"Protein AF-17; MLLT6, PHD finger containing." 9606.ENSP00000479919,SH3GLB1,394,Endophilin-B1; May be required for normal outer mitochondrial membrane dynamics. Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion. Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation. Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase- independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by [...] 9606.ENSP00000479921,ENSP00000479921,123,annotation not available 9606.ENSP00000479953,LRRC8E,796,"Volume-regulated anion channel subunit LRRC8E; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Mediates efflux of amino acids, such as aspartate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depen [...] " 9606.ENSP00000479955,CCL18,89,"C-C motif chemokine 18; Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B- cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses." 9606.ENSP00000479964,SLC4A1AP,796,Kanadaptin; Solute carrier family 4 member 1 adaptor protein. 9606.ENSP00000479969,ANGPTL8,198,Angiopoietin-like protein 8; Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels. May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity). Belongs to the ANGPTL8 family. 9606.ENSP00000479976,C11orf96,122,Uncharacterized protein C11orf96; Chromosome 11 open reading frame 96. 9606.ENSP00000480004,EPHX1,455,Epoxide hydrolase 1; Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids ; Belongs to the peptidase S33 family. 9606.ENSP00000480012,ADORA2A,412,Adenosine receptor A2a; Receptor for adenosine (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity); Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000480027,PRAMEF11,478,PRAME family member 11; Belongs to the PRAME family. 9606.ENSP00000480035,IGHV3-72,101,"Immunoglobulin heavy variable 3-72; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] " 9606.ENSP00000480043,VEGFC,419,"Vascular endothelial growth factor C; Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors." 9606.ENSP00000480050,SYN2,582,"Synapsin-2; Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons (By similarity); Belongs to the synapsin family." 9606.ENSP00000480053,GPIHBP1,184,"Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1; Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding. Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis. Binds chylomicrons and phospholipid particles that contain [...] " 9606.ENSP00000480056,METTL8,407,mRNA N(3)-methylcytidine methyltransferase METTL8; S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of mRNAs. 9606.ENSP00000480059,P3R3URF,95,PIK3R3 upstream reading frame. 9606.ENSP00000480079,ENSP00000480079,635,annotation not available 9606.ENSP00000480090,PKD1L3,1732,"Polycystic kidney disease protein 1-like 3; Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect." 9606.ENSP00000480091,NMRK2,235,"Nicotinamide riboside kinase 2; Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis; Belongs to the uridine kinase family. NRK subfamily." 9606.ENSP00000480106,ENSP00000480106,243,annotation not available 9606.ENSP00000480122,PRAMEF5,476,PRAME family member 5; Belongs to the PRAME family. 9606.ENSP00000480132,NCAM1,884,"Neural cell adhesion molecule 1; This protein is a cell adhesion molecule involved in neuron- neuron adhesion, neurite fasciculation, outgrowth of neurites, etc." 9606.ENSP00000480140,SRSF8,282,Serine/arginine-rich splicing factor 8; Involved in pre-mRNA alternative splicing. 9606.ENSP00000480150,HYOU1,999,Hypoxia up-regulated protein 1; Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. May play a role as a molecular chaperone and participate in protein folding. Belongs to the heat shock protein 70 family. 9606.ENSP00000480157,PIK3R6,754,Phosphoinositide 3-kinase regulatory subunit 6; Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS. 9606.ENSP00000480186,POLD2,504,"DNA polymerase delta subunit 2; Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Pol-delta3 and Pol- delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4. Although both Pol-delta3 and P [...] " 9606.ENSP00000480221,ANXA8L1,327,Annexin A8 like 1; Belongs to the annexin family. 9606.ENSP00000480240,LRMDA,226,Leucine-rich melanocyte differentiation-associated protein; Required for melanocyte differentiation. 9606.ENSP00000480270,PPP1R18,613,Phostensin; [Isoform 1]: May target protein phosphatase 1 to F-actin cytoskeleton. 9606.ENSP00000480279,USH1G,461,"Usher syndrome type-1G protein; Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing." 9606.ENSP00000480291,HNF1B,557,"Hepatocyte nuclear factor 1-beta; Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'." 9606.ENSP00000480301,IQSEC1,1114,"IQ motif and SEC7 domain-containing protein 1; Guanine nucleotide exchange factor for ARF1 and ARF6. Guanine nucleotide exchange factor activity is enhanced by lipid binding. Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin." 9606.ENSP00000480313,GATD3B,268,"Glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial; Glutamine amidotransferase like class 1 domain containing 3B; Belongs to the GATD3 family." 9606.ENSP00000480314,ZSWIM9,920,Uncharacterized protein ZSWIM9; Zinc finger SWIM-type containing 9. 9606.ENSP00000480316,TUBGCP5,1024,Gamma-tubulin complex component 5; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. 9606.ENSP00000480318,LOC102723532,316,Olfactory receptor. 9606.ENSP00000480322,CD99L2,272,"CD99 antigen-like protein 2; Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity); Belongs to the CD99 family." 9606.ENSP00000480332,TRAPPC3,188,Trafficking protein particle complex subunit 3; May play a role in vesicular transport from endoplasmic reticulum to Golgi. 9606.ENSP00000480336,SLC22A24,552,Steroid transmembrane transporter SLC22A24; Steroid transmembrane transporter that functions in the reabsorption of conjugated steroids in the kidney and is involved in steroid homeostasis. [Isoform 3]: Lack of transporter activity. 9606.ENSP00000480355,CXorf49,514,Uncharacterized protein CXorf49; Chromosome X open reading frame 49. 9606.ENSP00000480359,PDLIM5,625,PDZ and LIM domain 5. 9606.ENSP00000480364,RCC1L,464,"RCC1-like G exchanging factor-like protein; Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion. Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphoryl [...] " 9606.ENSP00000480376,GOLGA6L6,724,Golgin subfamily A member 6-like protein 6; Golgin A6 family like 6; Belongs to the GOLGA6 family. 9606.ENSP00000480378,MTERF4,381,"Transcription termination factor 4, mitochondrial; Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S); Belongs to the mTERF family." 9606.ENSP00000480401,ZNF205,554,Zinc finger protein 205; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000480405,GPR1,355,"G-protein coupled receptor 1; Receptor for the inflammation-associated leukocyte chemoattractant chemerin/RARRES2 suggesting a role for this receptor in the regulation of inflammation. Receptor for TAFA1, mediates its effects on neuronal stem-cell proliferation and differentiation via the activation of ROCK/ERK and ROCK/STAT3 signaling pathway (By similarity)." 9606.ENSP00000480421,SRRT,876,"Serrate RNA effector molecule homolog; Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. [...] " 9606.ENSP00000480428,B4GALT3,393,"Beta-1,4-galactosyltransferase 3; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids." 9606.ENSP00000480439,DHRS3,302,Short-chain dehydrogenase/reductase 3; Catalyzes the reduction of all-trans-retinal to all-trans- retinol in the presence of NADPH. 9606.ENSP00000480443,HSD11B1L,333,Hydroxysteroid 11-beta-dehydrogenase 1-like protein; Hydroxysteroid 11-beta dehydrogenase 1 like; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000480445,MSANTD3,275,Myb/SANT-like DNA-binding domain-containing protein 3; Myb/SANT DNA binding domain containing 3; Belongs to the MSANTD3 family. 9606.ENSP00000480467,IFNA13,190,Interferon alpha 13. 9606.ENSP00000480474,COL19A1,1142,Collagen alpha-1(XIX) chain; May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. 9606.ENSP00000480476,OPLAH,1288,5-oxoprolinase; Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate; Belongs to the oxoprolinase family. 9606.ENSP00000480483,NRN1,168,Neuritin; Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells. 9606.ENSP00000480484,TCHH,1943,"Trichohyalin; Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation." 9606.ENSP00000480489,PDZD7,1033,"PDZ domain-containing protein 7; In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1." 9606.ENSP00000480492,TSPAN10,393,Tetraspanin-10; Regulates maturation of the transmembrane metalloprotease ADAM10; Belongs to the tetraspanin (TM4SF) family. 9606.ENSP00000480507,ENSP00000480507,41,"Novel protein similar to cancer/testis antigen family 47, member A12 (CT47A12)." 9606.ENSP00000480514,TMCO1,239,"Calcium load-activated calcium channel; Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store." 9606.ENSP00000480524,GTF2IRD2B,949,General transcription factor II-I repeat domain-containing protein 2B; GTF2I repeat domain containing 2B; Belongs to the TFII-I family. 9606.ENSP00000480527,ENSP00000480527,80,Uncharacterized protein. 9606.ENSP00000480535,REXO2,237,"Oligoribonuclease, mitochondrial; 3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. [...] " 9606.ENSP00000480583,OR52E5,327,Olfactory receptor 52E5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000480601,CFAP99,646,Cilia and flagella associated protein 99. 9606.ENSP00000480615,ANTXRL,631,Anthrax toxin receptor-like; ANTXR like. 9606.ENSP00000480626,PRDM11,1177,PR domain-containing protein 11; May be involved in transcription regulation. Belongs to the class V-like SAM-binding methyltransferase superfamily. 9606.ENSP00000480627,C7orf77,90,Uncharacterized protein C7orf77; Chromosome 7 open reading frame 77. 9606.ENSP00000480637,MAGEA6,314,Melanoma-associated antigen 6; Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. 9606.ENSP00000480680,SEMA3B,754,Semaphorin-3B; Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons; Belongs to the semaphorin family. 9606.ENSP00000480703,SLC46A1,459,Proton-coupled folate transporter; Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme. Belongs to the major facilitator superfamily. SLC46A family. 9606.ENSP00000480707,COPZ2,210,"Coatomer subunit zeta-2; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properti [...] " 9606.ENSP00000480715,IQCE,702,IQ domain-containing protein E; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis. 9606.ENSP00000480722,NUDT18,323,"8-oxo-dGDP phosphatase NUDT18; Mediates the hydrolysis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8-oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolysis activity against 8-oxo-dGTP, 8-oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools; Belongs to the Nudix hydrolase family." 9606.ENSP00000480740,LRRC39,339,Leucine-rich repeat-containing protein 39; Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart. 9606.ENSP00000480744,ZNF385C,424,Zinc finger protein 385C. 9606.ENSP00000480750,ZAN,2812,Zonadhesin; Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling. 9606.ENSP00000480763,EPHA5,1038,"Ephrin type-A receptor 5; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in [...] " 9606.ENSP00000480768,ENSP00000480768,33,Uncharacterized protein. 9606.ENSP00000480791,FGF1,155,"Fibroblast growth factor 1; Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with int [...] " 9606.ENSP00000480798,NDFIP2,336,"NEDD4 family-interacting protein 2; Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation. May modulate EGFR signal [...] " 9606.ENSP00000480818,LOC102724250,791,Neuroblastoma breakpoint family member 26. 9606.ENSP00000480821,LSR,649,"Lipolysis-stimulated lipoprotein receptor; Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity); Belongs to the immunoglobulin superfamily. LISCH7 family." 9606.ENSP00000480824,PKIB,85,"cAMP-dependent protein kinase inhibitor beta; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains; Belongs to the PKI family." 9606.ENSP00000480826,H3C1,136,H3 clustered histone 1. 9606.ENSP00000480836,BCL2L13,509,Bcl-2-like protein 13; May promote the activation of caspase-3 and apoptosis. 9606.ENSP00000480851,SRRM3,653,Serine/arginine repetitive matrix protein 3; May play a role in regulating breast cancer cell invasiveness. May be involved in RYBP-mediated breast cancer progression ; Belongs to the CWC21 family. 9606.ENSP00000480853,VPS29,214,Vacuolar protein sorting-associated protein 29; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans- Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for carg [...] 9606.ENSP00000480884,ST3GAL6,384,"Type 2 lactosamine alpha-2,3-sialyltransferase; Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3- sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1; Belongs to the glycosyltransferase 29 family." 9606.ENSP00000480914,FNDC11,318,Fibronectin type III domain containing 11. 9606.ENSP00000480916,SLC9A7,726,Sodium/hydrogen exchanger 7; Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to the regulation of Golgi apparatus volume and pH. 9606.ENSP00000480941,C18orf32,76,UPF0729 protein C18orf32; May activate the NF-kappa-B signaling pathway. 9606.ENSP00000480946,SETSIP,302,Protein SETSIP; Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene promoter. 9606.ENSP00000480960,H4C13,103,H4 clustered histone 13. 9606.ENSP00000480966,P2RY6,328,P2Y purinoceptor 6; Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. 9606.ENSP00000480971,SSTR3,418,Somatostatin receptor type 3; Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. 9606.ENSP00000480986,ZCCHC17,263,Nucleolar protein of 40 kDa; Zinc finger CCHC-type containing 17. 9606.ENSP00000480987,MCM3,853,"DNA replication licensing factor MCM3; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] " 9606.ENSP00000480991,CHST9,443,"Carbohydrate sulfotransferase 9; Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Participates in biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Has a higher activity toward carbonic anhydrase VI than toward lutropin. Only active against terminal GalNAcbeta1,GalNAcbeta. Isoform 2, but not isoform 1, is active toward chondroitin." 9606.ENSP00000480998,BHLHE23,241,Class E basic helix-loop-helix protein 23; May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity). 9606.ENSP00000481006,PLP1,277,Myelin proteolipid protein; This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin; Belongs to the myelin proteolipid protein family. 9606.ENSP00000481012,GAS2L1,681,"GAS2-like protein 1; Involved in the cross-linking of microtubules and microfilaments. Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers. Belongs to the GAS2 family." 9606.ENSP00000481021,SEM1,118,"Putative protein SEM1, isoform 2; SEM1 26S proteasome complex subunit." 9606.ENSP00000481022,SCAMP1,338,Secretory carrier-associated membrane protein 1; Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface. 9606.ENSP00000481029,PSMC3,439,"26S proteasome regulatory subunit 6A; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated wit [...] " 9606.ENSP00000481038,CYFIP1,1253,Cytoplasmic FMR1-interacting protein 1; Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E- FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with th [...] 9606.ENSP00000481046,PHOSPHO2,241,"Pyridoxal phosphate phosphatase PHOSPHO2; Phosphatase that has high activity toward pyridoxal 5'- phosphate (PLP). Also active at much lower level toward pyrophosphate, phosphoethanolamine (PEA), phosphocholine (PCho), phospho-l-tyrosine, fructose-6-phosphate, p-nitrophenyl phosphate, and h-glycerophosphate." 9606.ENSP00000481054,RAB44,1021,"Ras-related protein Rab-44; RAB44, member RAS oncogene family." 9606.ENSP00000481056,FCGBP,4204,IgGFc-binding protein; May be involved in the maintenance of the mucosal structure as a gel-like component of the mucosa. 9606.ENSP00000481078,GOLGA6L9,432,Golgin subfamily A member 6-like protein 9; Golgin A6 family like 9. 9606.ENSP00000481091,TADA2A,443,"Transcriptional adapter 2-alpha; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double- stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote XRCC6 acetylation thus facilitating cell apoptosis in [...] " 9606.ENSP00000481096,MGAT4C,478,"Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C; Glycosyltransferase that participates in the transfer of N- acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity)." 9606.ENSP00000481109,PRAG1,1406,"Inactive tyrosine-protein kinase PRAG1; Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity)." 9606.ENSP00000481114,FOLR3,245,Folate receptor gamma; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate. 9606.ENSP00000481126,VPS11,941,"Vacuolar protein sorting-associated protein 11 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] " 9606.ENSP00000481127,LOC102724788,600,"Proline dehydrogenase 1, mitochondrial; Converts proline to delta-1-pyrroline-5-carboxylate. Belongs to the proline oxidase family." 9606.ENSP00000481142,ENSP00000481142,84,Uncharacterized protein. 9606.ENSP00000481149,ANKRD36B,1353,Ankyrin repeat domain 36B; Belongs to the ANKRD36 family. 9606.ENSP00000481152,IGHV3-43D,98,"Immunoglobulin heavy variable 3-43D; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whi [...] " 9606.ENSP00000481184,CT45A8,189,Cancer/testis antigen family 45 member A8. 9606.ENSP00000481185,GRIFIN,144,Grifin; Galectin-related inter-fiber protein. 9606.ENSP00000481203,SHISA8,397,Protein shisa-8; May regulate trafficking and current kinetics of AMPA-type glutamate receptor (AMPAR) at synapses; Belongs to the shisa family. 9606.ENSP00000481244,FXYD1,92,"Phospholemman; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone." 9606.ENSP00000481249,SOCS2,198,Suppressor of cytokine signaling 2; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS2 appears to be a negative regulator in the growth hormone/IGF1 signaling pathway. Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000481258,TBC1D3I,549,TBC1 domain family member 3I; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000481271,ZNF761,70,Zinc finger protein 761. 9606.ENSP00000481301,SLC38A3,504,"Sodium-coupled neutral amino acid transporter 3; Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission; Belongs to the amino acid/polyamine transporter 2 family." 9606.ENSP00000481309,SPINK6,80,"Serine protease inhibitor Kazal-type 6; Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8." 9606.ENSP00000481313,SMR3B,79,Submaxillary gland androgen regulated protein 3B; Belongs to the PROL1/PROL3 family. 9606.ENSP00000481314,SNX12,162,Sorting nexin-12; May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family. 9606.ENSP00000481316,ENSP00000481316,54,KRAB domain-containing protein. 9606.ENSP00000481321,GABRR3,467,"Gamma-aminobutyric acid receptor subunit rho-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel." 9606.ENSP00000481357,CCL23,137,"C-C motif chemokine 23; Shows chemotactic activity for monocytes, resting T- lymphocytes, and neutrophils, but not for activated lymphocytes. Inhibits proliferation of myeloid progenitor cells in colony formation assays. This protein can bind heparin. Binds CCR1. CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99) are more potent chemoattractants than the small-inducible cytokine A23. Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000481358,TMEM191B,346,Transmembrane protein 191B. 9606.ENSP00000481372,ZNF365-2,216,Talanin; May play a role in uric acid excretion. 9606.ENSP00000481380,CCNA2,432,Cyclin-A2; Cyclin which controls both the G1/S and the G2/M transition phases of the cell cycle. Functions through the formation of specific serine/threonine protein kinase holoenzyme complexes with the cyclin- dependent protein kinases CDK1 or CDK2. The cyclin subunit confers the substrate specificity of these complexes and differentially interacts with and activates CDK1 and CDK2 throughout the cell cycle. 9606.ENSP00000481450,AMY2A,511,Pancreatic alpha-amylase; Amylase alpha 2A. 9606.ENSP00000481457,TRIM49B,452,Putative tripartite motif-containing protein 49B; Tripartite motif containing 49B; Belongs to the TRIM/RBCC family. 9606.ENSP00000481465,FAM83D,585,"Protein FAM83D; Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC. May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade. May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22." 9606.ENSP00000481486,H4C9,103,H4 clustered histone 9. 9606.ENSP00000481495,DDX24,859,ATP-dependent RNA helicase DDX24; ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DDX24/MAK5 subfamily. 9606.ENSP00000481508,TBC1D3L,549,TBC1 domain family member 3L; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000481542,NBPF26,1448,Neuroblastoma breakpoint family member 26; NBPF member 26. 9606.ENSP00000481554,GRIA3,894,"Glutamate receptor 3; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of [...] " 9606.ENSP00000481559,MRM1,353,"rRNA methyltransferase 1, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA." 9606.ENSP00000481570,TNFAIP3,790,"Tumor necrosis factor alpha-induced protein 3; Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in [...] " 9606.ENSP00000481571,ENSP00000481571,122,Uncharacterized protein. 9606.ENSP00000481575,POM121C,987,Nuclear envelope pore membrane protein POM 121C; Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). Belongs to the POM121 family. 9606.ENSP00000481581,FOXD1,465,"Forkhead box protein D1; Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes." 9606.ENSP00000481592,SMIM22,88,Small integral membrane protein 22; May modulate lipid droplet formation throught interaction with SQLE. 9606.ENSP00000481593,HTD2,168,"Hydroxyacyl-thioester dehydratase type 2, mitochondrial; Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis; Belongs to the HTD2 family." 9606.ENSP00000481594,OR56A5,313,Olfactory receptor 56A5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000481613,POM121L1P,429,Putative POM121-like protein 1. 9606.ENSP00000481622,H2BS1,126,"Histone H2B type F-S; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000481625,SLC6A6,721,Sodium- and chloride-dependent taurine transporter; Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake. 9606.ENSP00000481626,C18orf25,404,Uncharacterized protein C18orf25; Chromosome 18 open reading frame 25. 9606.ENSP00000481633,IFNL3,200,"Interferon lambda-3; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-sel [...] " 9606.ENSP00000481644,CH507-154B10.1,120,Uncharacterized LOC107987290. 9606.ENSP00000481646,RPS10,165,40S ribosomal protein S10; Component of the 40S ribosomal subunit; Belongs to the eukaryotic ribosomal protein eS10 family. 9606.ENSP00000481675,SPRY1,319,Protein sprouty homolog 1; May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis. 9606.ENSP00000481683,PRAMEF25,478,PRAME family member 25; Belongs to the PRAME family. 9606.ENSP00000481684,FADS6,368,Fatty acid desaturase 6. 9606.ENSP00000481694,SLC35E2B,405,Solute carrier family 35 member E2B; Putative transporter; Belongs to the TPT transporter family. SLC35E subfamily. 9606.ENSP00000481697,RSRC1,334,Serine/Arginine-related protein 53; Has a role in alternative splicing and transcription regulation. Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing. 9606.ENSP00000481699,SERPINI2,415,Serpin family I member 2. 9606.ENSP00000481721,TBC1D2,928,"TBC1 domain family member 2A; Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion." 9606.ENSP00000481728,ABCG4,646,ATP-binding cassette sub-family G member 4; May be involved in macrophage lipid homeostasis. 9606.ENSP00000481733,MED29,221,"Mediator of RNA polymerase II transcription subunit 29; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000481750,AP5S1,200,"AP-5 complex subunit sigma-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to it is required for efficient homologous recombination DNA double-strand break repair." 9606.ENSP00000481762,CSDE1,844,Cold shock domain-containing protein E1; RNA-binding protein. Required for internal initiation of translation of human rhinovirus RNA. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. 9606.ENSP00000481773,SAP25,297,Histone deacetylase complex subunit SAP25; Involved in the transcriptional repression mediated by the mSIN3A but not the N-CoR corepressor complex. 9606.ENSP00000481780,MAPK8IP3,1337,"C-Jun-amino-terminal kinase-interacting protein 3; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. It [...] " 9606.ENSP00000481815,TRIM64C,450,Tripartite motif containing 64C; Belongs to the TRIM/RBCC family. 9606.ENSP00000481824,MFRP,579,Membrane frizzled-related protein; May play a role in eye development. 9606.ENSP00000481834,HPCAL4,191,Hippocalcin-like protein 4; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. 9606.ENSP00000481841,CD24,129,"Signal transducer CD24; May have a pivotal role in cell differentiation of different cell types. Signaling could be triggered by the binding of a lectin- like ligand to the CD24 carbohydrates, and transduced by the release of second messengers derived from the GPI-anchor. Modulates B-cell activation responses. Promotes AG-dependent proliferation of B-cells, and prevents their terminal differentiation into antibody-forming cells. In association with SIGLEC10 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, [...] " 9606.ENSP00000481842,SAP18,172,"Histone deacetylase complex subunit SAP18; Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or durin [...] " 9606.ENSP00000481848,KCNN3,746,Small conductance calcium-activated potassium channel protein 3; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin; Belongs to the potassium channel KCNN family. KCa2.3/KCNN3 subfamily. 9606.ENSP00000481850,JADE3,823,"Protein Jade-3; Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo." 9606.ENSP00000481854,FAM13C,585,Protein FAM13C; Family with sequence similarity 13 member C; Belongs to the FAM13 family. 9606.ENSP00000481859,PAN2,1202,"PAN2-PAN3 deadenylation complex catalytic subunit PAN2; Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent [...] " 9606.ENSP00000481862,ARHGAP23,1491,Rho GTPase-activating protein 23; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. 9606.ENSP00000481886,PGRMC2,247,Membrane-associated progesterone receptor component 2; Receptor for steroids. 9606.ENSP00000481893,CNOT6,557,"CCR4-NOT transcription complex subunit 6; Poly(A) nuclease with 3'-5' RNase activity. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in mRNA decay mediated by the major-protein-coding determinant of instability (mCRD) of the FOS gene in the cytopl [...] " 9606.ENSP00000481912,CHST12,414,"Carbohydrate sulfotransferase 12; Catalyzes the transfer of sulfate to position 4 of the N- acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O- sulfated GalNAc when chondroitin sulfate C is used as an acceptor; Belongs to the sulfotransferase 2 family." 9606.ENSP00000481917,SEZ6L2,923,Seizure 6-like protein 2; May contribute to specialized endoplasmic reticulum functions in neurons; Belongs to the SEZ6 family. 9606.ENSP00000481920,MED6,257,"Mediator of RNA polymerase II transcription subunit 6; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000481934,ARHGAP11B-2,267,Rho GTPase activating protein 11B. 9606.ENSP00000481937,CEACAM20,596,"Carcinoembryonic antigen-related cell adhesion molecule 20; Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response." 9606.ENSP00000481956,CREB3L1,519,"Processed cyclic AMP-responsive element-binding protein 3-like protein 1; Transcription factor involved in unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3'. In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated [...] " 9606.ENSP00000481994,EPHB6,1022,"Ephrin type-B receptor 6; Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2." 9606.ENSP00000482027,NR4A3,637,"Nuclear receptor subfamily 4 group A member 3; Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes (By similarity). Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vasc [...] " 9606.ENSP00000482030,ZNF2,438,Zinc finger protein 2; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000482032,IP6K1,441,"Inositol hexakisphosphate kinase 1; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4; Belongs to the inositol phosphokinase (IPK) family." 9606.ENSP00000482038,LOC102723713,124,TP53-target gene 3 protein. 9606.ENSP00000482063,PCGF2,344,"Polycomb group RING finger protein 2; Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to main [...] " 9606.ENSP00000482075,PTGES3,164,"Prostaglandin E synthase 3; Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes. Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway." 9606.ENSP00000482093,PER3,1210,"Period circadian protein homolog 3; Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and [...] " 9606.ENSP00000482107,LOC102724159,919,Uncharacterized protein. 9606.ENSP00000482119,IQCA1L,818,IQ and AAA domain-containing protein 1-like; IQ motif containing with AAA domain 1 like; Belongs to the AAA ATPase family. 9606.ENSP00000482133,SYNJ2BP-COX16,182,SYNJ2BP-COX16 readthrough. 9606.ENSP00000482142,FAM156A,213,Family with sequence similarity 156 member A. 9606.ENSP00000482169,NEFL,543,"Neurofilament light polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber." 9606.ENSP00000482180,C11orf95,678,Uncharacterized protein C11orf95; Chromosome 11 open reading frame 95. 9606.ENSP00000482195,ZCCHC18,403,Zinc finger CCHC-type containing 18; Belongs to the ZCCHC12 family. 9606.ENSP00000482202,PIGW,504,"Phosphatidylinositol-glycan biosynthesis class W protein; Required for the transport of GPI-anchored proteins to the plasma membrane. Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity). Belongs to the PIGW family." 9606.ENSP00000482218,BCL2L12,334,Bcl-2-like protein 12; BCL2 like 12; Belongs to the Bcl-2 family. 9606.ENSP00000482228,PLEKHA2,425,"Pleckstrin homology domain-containing family A member 2; Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity)." 9606.ENSP00000482232,CGA,147,"Glycoprotein hormones alpha chain; Shared alpha chain of the active heterodimeric glycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH, lutropin/luteinizing hormone/LH, follitropin/follicle stimulating hormone/FSH and choriogonadotropin/CG. These hormones bind specific receptors on target cells that in turn activate downstream signaling pathways." 9606.ENSP00000482241,CT45A7,189,Cancer/testis antigen family 45 member A7. 9606.ENSP00000482245,DACH1,706,"Dachshund homolog 1; Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction wi [...] " 9606.ENSP00000482259,CCL4,92,"C-C motif chemokine 4; Monokine with inflammatory and chemokinetic properties. Binds to CCR5. One of the major HIV-suppressive factors produced by CD8+ T- cells. Recombinant MIP-1-beta induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form MIP-1-beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor CCR5 and to inhibit the CCR5-mediated entry of HIV-1 in T-cells. MIP-1- beta(3-69) is also a ligand for CCR1 and CCR2 isoform B. Belongs to the intercrine beta [...] " 9606.ENSP00000482263,ENSP00000482263,199,annotation not available 9606.ENSP00000482264,DGAT1,488,"Diacylglycerol O-acyltransferase 1; Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders. Belongs to the membrane-bound acyltransf [...] " 9606.ENSP00000482270,CXorf49B,514,Chromosome X open reading frame 49B. 9606.ENSP00000482285,IFFO1,571,Intermediate filament family orphan 1. 9606.ENSP00000482304,ZP4,540,"Processed zona pellucida sperm-binding protein 4; Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP4 may act as a sperm receptor." 9606.ENSP00000482306,TTC8,531,"Tetratricopeptide repeat protein 8; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl [...] " 9606.ENSP00000482313,RECQL4,1208,ATP-dependent DNA helicase Q4; DNA-dependent ATPase. May modulate chromosome segregation. Belongs to the helicase family. RecQ subfamily. 9606.ENSP00000482325,ANKRD20A3,823,Ankyrin repeat domain-containing protein 20A3. 9606.ENSP00000482335,MAP7,779,Ensconsin; Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments. Belongs to the MAP7 family. 9606.ENSP00000482345,TBC1D3C,549,TBC1 domain family member 3C. 9606.ENSP00000482358,PRSS57,283,Serine protease 57; Serine protease that cleaves preferentially after Arg residues. Can also cleave after citrulline (deimidated arginine) and methylarginine residues ; Belongs to the peptidase S1 family. 9606.ENSP00000482374,PRR36,1346,Proline-rich protein 36; Proline rich 36. 9606.ENSP00000482378,LRP5L,252,Low-density lipoprotein receptor-related protein 5-like protein; LDL receptor related protein 5 like. 9606.ENSP00000482393,IRX4,545,Iroquois-class homeodomain protein IRX-4; Likely to be an important mediator of ventricular differentiation during cardiac development. 9606.ENSP00000482396,ALG9-2,844,"Alpha-1,2-mannosyltransferase ALG9; Catalyzes the transfer of mannose from Dol-P-Man to lipid- linked oligosaccharides; Belongs to the glycosyltransferase 22 family." 9606.ENSP00000482410,JRK,568,Jerky protein homolog; May bind DNA. 9606.ENSP00000482431,H2AC15,130,H2A clustered histone 15. 9606.ENSP00000482437,ALG9,618,"ALG9 alpha-1,2-mannosyltransferase." 9606.ENSP00000482438,MED22,200,"Mediator of RNA polymerase II transcription subunit 22; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000482442,FXYD6-FXYD2,144,FXYD domain-containing ion transport regulator; FXYD6-FXYD2 readthrough; Belongs to the FXYD family. 9606.ENSP00000482445,PRXL2A,229,"Peroxiredoxin-like 2A; Involved in redox regulation of the cell. Acts as an antioxidant. Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation. May affect bone resorption and help to maintain bone mass. Acts as a negative regulator of macrophage-mediated inflammation by inhibiting macrophage production of inflammatory cytokines, probably through suppression of the MAPK signaling pathway. Belongs to the peroxiredoxin-like PRXL2 family. PRXL2A subfamily." 9606.ENSP00000482457,PLCG2,1265,"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling." 9606.ENSP00000482482,FAM228B,324,Protein FAM228B; Family with sequence similarity 228 member B; Belongs to the FAM228 family. 9606.ENSP00000482486,RAVER1,756,Ribonucleoprotein PTB-binding 1; Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity). 9606.ENSP00000482502,TYW1B,668,"S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B; Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity)." 9606.ENSP00000482504,NR2E3,410,"Photoreceptor-specific nuclear receptor; Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression. Belongs to the nuclear hormone receptor family. NR2 subfamily." 9606.ENSP00000482512,LCN8,175,Epididymal-specific lipocalin-8; May play a role in male fertility. May act as a retinoid carrier protein within the epididymis. 9606.ENSP00000482514,LOC102724770,220,Protein DGCR6. 9606.ENSP00000482515,SPATS2L,588,SPATS2-like protein; Spermatogenesis associated serine rich 2 like; Belongs to the SPATS2 family. 9606.ENSP00000482523,CDRT4,152,CMT1A duplicated region transcript 4. 9606.ENSP00000482538,H2AC16,130,H2A clustered histone 16. 9606.ENSP00000482540,ZNF658,1059,"Zinc finger protein 658; Mediates transcriptional repression in response to zinc. Represses several genes, including SLC30A5, SLC30A10 and CBWD1, by binding to the zinc transcriptional regulatory element (ZTRE) (5'- C[AC]C[TAG]CC[TC]-N(0-50)-[GA]G[ATC]G[TG]G-3') found in the promoter region. May play a role in the control of ribosome biogenesis, regulating predominantly rRNA levels, as well as those of several ribosomal proteins, thus coordinating this highly zinc-demanding process with the available zinc supply." 9606.ENSP00000482543,NDUFA6,154,"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone." 9606.ENSP00000482546,REC8,547,Meiotic recombination protein REC8 homolog; Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity); Belongs to the rad21 family. 9606.ENSP00000482548,PIP4K2B,416,"Phosphatidylinositol 5-phosphate 4-kinase type-2 beta; Participates in the biosynthesis of phosphatidylinositol 4,5- bisphosphate." 9606.ENSP00000482552,FAM170A,329,Protein FAM170A; Acts as a nuclear transcription factor that positively regulates the expression of heat shock genes. Binds to heat shock promoter elements (HSE). 9606.ENSP00000482564,H2AB3,115,H2A.B variant histone 3. 9606.ENSP00000482568,ORAI1,301,"Calcium release-activated calcium channel protein 1; Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1. CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT. Belongs to the Orai family." 9606.ENSP00000482581,TWIST2,160,"Twist-related protein 2; Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors." 9606.ENSP00000482599,METTL23,190,Methyltransferase-like protein 23; Probable methyltransferase. 9606.ENSP00000482600,GCNT7,429,"Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7; Glycosyltransferase." 9606.ENSP00000482604,HSH2D,352,Hematopoietic SH2 domain-containing protein; May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter. 9606.ENSP00000482607,ZNF322,402,"Zinc finger protein 322; Transcriptional activator. Important for maintenance of pluripotency in embryonic stem cells (By similarity). Binds directly to the POU5F1 distal enhancer and the NANOG proximal promoter, and enhances expression of both genes (By similarity). Can also bind to numerous other gene promoters and regulates expression of many other pluripotency factors, either directly or indirectly (By similarity). Promotes inhibition of MAPK signaling during embryonic stem cell differentiation (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family." 9606.ENSP00000482609,PEX12,359,Peroxisome assembly protein 12; Required for protein import into peroxisomes. 9606.ENSP00000482613,HMGN3,130,"High mobility group nucleosome-binding domain-containing protein 3; Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair. Affects both insulin and glucagon levels and modulates the expression of pancreatic genes involved in insulin secretion. Regulates the expression of the glucose transporter SLC2A2 by binding specifically to its promoter region and recruiting PDX1 and additional transcription factors. Regulates the expression of SLC6A9, a glycine transporter which regulates the glyci [...] " 9606.ENSP00000482620,RAB11FIP4,637,"Rab11 family-interacting protein 4; Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6." 9606.ENSP00000482630,TBC1D3H,549,TBC1 domain family member 3H; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000482632,ZNF501,271,Zinc finger protein 501; May be involved in transcriptional regulation. Essential for Golgi structural integrity. 9606.ENSP00000482639,MGST2,147,"Microsomal glutathione S-transferase 2; Can catalyze the production of LTC4 from LTA4 and reduced glutathione. Can catalyze the conjugation of 1-chloro-2,4- dinitrobenzene with reduced glutathione." 9606.ENSP00000482647,ARHGEF18,1173,Rho/Rac guanine nucleotide exchange factor 18. 9606.ENSP00000482657,MAP3K14,947,"Mitogen-activated protein kinase kinase kinase 14; Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Promotes proteolytic processing of NFKB2/P100, which leads to activation of NF-kappa-B via the non- canonical pathway. Could act in a receptor-selective manner." 9606.ENSP00000482674,H2BC3,126,"Histone H2B type 1-B; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000482678,IGKV1D-33,108,Immunoglobulin kappa variable 1D-33. 9606.ENSP00000482704,DHRS11,260,"Dehydrogenase/reductase SDR family member 11; Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta- hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta-pregnanes, 4-pregnenes and bile acids. May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones." 9606.ENSP00000482705,ALG1L,207,Putative glycosyltransferase ALG1-like; Putative glycosyltransferase. 9606.ENSP00000482732,PTPN9,593,Tyrosine-protein phosphatase non-receptor type 9; Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the Golgi apparatus. Belongs to the protein-tyrosine phosphatase family. Non- receptor class 3 subfamily. 9606.ENSP00000482743,TPSB2,275,Tryptase beta 2; Belongs to the peptidase S1 family. 9606.ENSP00000482749,ZNF227,799,Zinc finger protein 227; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000482753,C9orf72,481,"Guanine nucleotide exchange C9orf72; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP- bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity. Positivel [...] " 9606.ENSP00000482760,PCSK6,969,"Proprotein convertase subtilisin/kexin type 6; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues." 9606.ENSP00000482773,IDH3B,387,"Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial; Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers." 9606.ENSP00000482786,FTCDNL1,147,Formiminotransferase cyclodeaminase N-terminal like. 9606.ENSP00000482801,MILR1,343,Allergin-1; Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE-mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity). 9606.ENSP00000482810,EPB41L4A,686,Erythrocyte membrane protein band 4.1 like 4A. 9606.ENSP00000482816,CRYAA2,173,Crystallin alpha A2. 9606.ENSP00000482819,ZNF343,640,Zinc finger protein 343; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000482826,NAPB,302,Beta-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. 9606.ENSP00000482829,SIK1B,783,Probable serine/threonine-protein kinase SIK1B; Probable serine/threonine-protein kinase. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. AMPK subfamily. 9606.ENSP00000482841,CRABP2,138,Cellular retinoic acid-binding protein 2; Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors. 9606.ENSP00000482855,ENSP00000482855,120,annotation not available 9606.ENSP00000482870,DOC2A,400,Double C2-like domain-containing protein alpha; Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. 9606.ENSP00000482899,PAMR1,737,Inactive serine protease PAMR1; May play a role in regeneration of skeletal muscle. Belongs to the peptidase S1 family. 9606.ENSP00000482916,DTD1-2,223,"D-aminoacyl-tRNA deacylase 1; Possible ATPase involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes." 9606.ENSP00000482950,DOC2B,412,Double C2-like domain-containing protein beta; Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium- dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium- triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma memb [...] 9606.ENSP00000482954,PRLR,622,Prolactin receptor; This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling. 9606.ENSP00000482968,ALMS1,4168,"Alstrom syndrome protein 1; Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells." 9606.ENSP00000483001,NOP16,232,NOP16 nucleolar protein; Belongs to the NOP16 family. 9606.ENSP00000483005,TRIM52,297,E3 ubiquitin-protein ligase TRIM52; E3 ubiquitin-protein ligase. Positively regulates the NF-kappa-B signaling pathway. 9606.ENSP00000483018,ABO,373,"Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form; This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity." 9606.ENSP00000483038,SLC2A11,535,"Solute carrier family 2, facilitated glucose transporter member 11; Facilitative glucose transporter." 9606.ENSP00000483059,NR2C2,615,"Nuclear receptor subfamily 2 group C member 2; Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response element [...] " 9606.ENSP00000483103,POTEB3,581,POTE ankyrin domain family member B3. 9606.ENSP00000483110,TAC3,121,"Neurokinin-B; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal function; Belongs to the tachykinin family." 9606.ENSP00000483117,ACD,544,"Adrenocortical dysplasia protein homolog; Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodim [...] " 9606.ENSP00000483125,PADI6,694,Protein-arginine deiminase type-6; Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo. 9606.ENSP00000483140,ENSP00000483140,259,Novel protein. 9606.ENSP00000483154,FAM71D,422,Protein FAM71D; Family with sequence similarity 71 member D. 9606.ENSP00000483185,AP2B1,951,"AP-2 complex subunit beta; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but [...] " 9606.ENSP00000483228,PPP4R3B,849,Serine/threonine-protein phosphatase 4 regulatory subunit 3B; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers; Belongs to the SMEK family. 9606.ENSP00000483236,DCAF7,342,"DDB1- and CUL4-associated factor 7; Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. Belongs to the WD repeat DCAF7 family." 9606.ENSP00000483239,OR4M2,313,Olfactory receptor 4M2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000483246,TMEM106A,262,"Transmembrane protein 106A; Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway. Upon activation, upregulates the expression of CD80, CD86, CD69 and MHC II on macrophages, and induces the release of pro- inflammatory cytokines such as TNF, IL1B, IL6, CCL2 and nitric oxide (By similarity). May play a role in inhibition of proliferation and migration. Belongs to the TMEM106 family." 9606.ENSP00000483254,HNRNPDL,420,"Heterogeneous nuclear ribonucleoprotein D-like; Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or [...] " 9606.ENSP00000483276,TMEM222,208,Transmembrane protein 222. 9606.ENSP00000483280,MAFIP-2,124,MaFF-interacting protein; Acts as coactivator of MAFF transcriptional activity. Inhibits cell growth and colony-forming efficiency. Belongs to the tektin family. 9606.ENSP00000483283,H3C11,136,H3 clustered histone 11. 9606.ENSP00000483293,OR1N2,330,Olfactory receptor 1N2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000483300,ACACA,2383,"Acetyl-CoA carboxylase 1; Cytosolic enzyme that catalyzes the carboxylation of acetyl- CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis. This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA." 9606.ENSP00000483312,WDR38,315,WD repeat domain 38. 9606.ENSP00000483313,WASF2,498,Wiskott-Aldrich syndrome protein family member 2; Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex; Belongs to the SCAR/WAVE family. 9606.ENSP00000483328,POLR2J3,115,DNA-directed RNA polymerase II subunit RPB11-b2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). 9606.ENSP00000483330,CCL4L2,103,C-C motif chemokine ligand 4 like 2. 9606.ENSP00000483345,HDGFL2,671,"Hepatoma-derived growth factor-related protein 2; Involved in cellular growth control, through the regulation of cyclin D1 expression; Belongs to the HDGF family." 9606.ENSP00000483356,RIBC2,382,RIB43A domain with coiled-coils 2. 9606.ENSP00000483364,TCTN3,607,Tectonic-3; Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway. 9606.ENSP00000483375,GALE,348,UDP-glucose 4-epimerase; Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversi [...] 9606.ENSP00000483386,RIMBP3,1639,"RIMS-binding protein 3A; Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development; Belongs to the RIMBP family." 9606.ENSP00000483397,FSBP,726,Fibrinogen silencer binding protein. 9606.ENSP00000483403,GHR,645,"Growth hormone-binding protein; Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity). Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling." 9606.ENSP00000483408,RBM26,1009,RNA binding motif protein 26. 9606.ENSP00000483415,ENSP00000483415,235,annotation not available 9606.ENSP00000483424,MARK1,796,"Serine/threonine-protein kinase MARK1; Serine/threonine-protein kinase. Involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU. Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DC [...] " 9606.ENSP00000483430,IFI27,122,"Interferon alpha-inducible protein 27, mitochondrial; Probable adapter protein involved in different biological processes. Part of the signaling pathways that lead to apoptosis. Involved in type-I interferon-induced apoptosis characterized by a rapid and robust release of cytochrome C from the mitochondria and activation of BAX and caspases 2, 3, 6, 8 and 9. Also functions in TNFSF10-induced apoptosis. May also have a function in the nucleus, where it may be involved in the interferon-induced negative regulation of the transcriptional activity of NR4A1, NR4A2 and NR4A3 through the enha [...] " 9606.ENSP00000483453,SYNRG,1314,Synergin gamma; May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins. 9606.ENSP00000483467,SBK3,359,Uncharacterized serine/threonine-protein kinase SBK3; SH3 domain binding kinase family member 3; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily. 9606.ENSP00000483469,GPR179,2367,"Probable G-protein coupled receptor 179; Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. Belongs to the G-protein coupled receptor 3 family." 9606.ENSP00000483484,NSA2,260,Ribosome biogenesis protein NSA2 homolog; Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity). 9606.ENSP00000483486,ARFRP1,201,ADP-ribosylation factor-related protein 1; Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver. 9606.ENSP00000483489,NTMT1,223,"N-terminal Xaa-Pro-Lys N-methyltransferase 1, N-terminally processed; Distributive alpha-N-methyltransferase that methylates the N- terminus of target proteins containing the N-terminal motif [Ala/Gly/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of the exposed alpha-amino group of the Ala, Gly or Ser residue in the [Ala/Gly/Ser]- Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Some of the substrates may be primed by METTL11B-mediated monomethylation. Catalyzes the trimethylation of the N-terminal Gly [...] " 9606.ENSP00000483494,R3HCC1L,792,Coiled-coil domain-containing protein R3HCC1L; R3H domain and coiled-coil containing 1 like. 9606.ENSP00000483495,DDX27,796,Probable ATP-dependent RNA helicase DDX27; Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA. 9606.ENSP00000483519,USP17L15,559,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 15; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000483521,LEPROT,140,"Leptin receptor gene-related protein; Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability." 9606.ENSP00000483523,NOL4L,680,Nucleolar protein 4 like. 9606.ENSP00000483537,C11orf65,313,Uncharacterized protein C11orf65; Chromosome 11 open reading frame 65. 9606.ENSP00000483547,MID1IP1,183,"Mid1-interacting protein 1; Plays a role in the regulation of lipogenesis in liver. Up- regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity); Belongs to the SPOT14 family." 9606.ENSP00000483549,RDM1,284,RAD52 motif-containing protein 1; May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA. 9606.ENSP00000483552,FURIN,794,"Furin; Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif. Mediates processing of TGFB1, an essential step in TGF-beta-1 activation. (Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin." 9606.ENSP00000483562,SALL2,1007,"Sal-like protein 2; Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure." 9606.ENSP00000483567,IGKV2D-29,102,"Immunoglobulin kappa variable 2D-29; V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins- secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whi [...] " 9606.ENSP00000483570,BTK,693,"Tyrosine-protein kinase BTK; Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker prote [...] " 9606.ENSP00000483585,IGKV2-40,104,Immunoglobulin kappa variable 2-40. 9606.ENSP00000483599,SPON2,331,Spondin-2; Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the ECM for microbial pathogens (By similarity). Binds bacterial lipopolysaccharide (LPS). 9606.ENSP00000483619,CT45A2,189,Cancer/testis antigen family 45 member A2. 9606.ENSP00000483621,CABYR,493,Calcium-binding tyrosine phosphorylation-regulated protein; May function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calcium in vitro. Isoform 4 probably does not bind calcium. 9606.ENSP00000483624,CLECL1,191,"C-type lectin-like domain family 1; May function in mediating immune cell-cell interactions. May act as a T-cell costimulatory molecule, enhancing anti-CD3-induced proliferation. May play a role in the interaction of dendritic cells with T-cells and the cells of the adaptive immune response." 9606.ENSP00000483631,USP27X,438,"Ubiquitin carboxyl-terminal hydrolase 27; Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK- degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity." 9606.ENSP00000483637,CT45A9,189,Cancer/testis antigen family 45 member A9. 9606.ENSP00000483640,MYH7B,1983,Myosin-7B; Involved in muscle contraction. 9606.ENSP00000483667,CHD1,1710,"Chromodomain-helicase-DNA-binding protein 1; ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated wit [...] " 9606.ENSP00000483673,GOLGA6L22,810,Golgin subfamily A member 6-like protein 22; Golgin A6 family like 22; Belongs to the GOLGA6 family. 9606.ENSP00000483688,PSMB3,205,"Proteasome subunit beta type-3; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] " 9606.ENSP00000483713,KLRF1,231,Killer cell lectin-like receptor subfamily F member 1; Involved in the natural killer (NK)-mediated cytolysis of PHA-induced lymphoblasts. 9606.ENSP00000483720,ZNF107,852,Zinc finger protein 107. 9606.ENSP00000483721,ADCYAP1R1,496,"Pituitary adenylate cyclase-activating polypeptide type I receptor; This is a receptor for PACAP-27 and PACAP-38. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. May regulate the release of adrenocorticotropin, luteinizing hormone, growth hormone, prolactin, epinephrine, and catecholamine. May play a role in spermatogenesis and sperm motility. Causes smooth muscle relaxation and secretion in the gastrointestinal tract." 9606.ENSP00000483757,DAOA,153,D-amino acid oxidase activator; Seems to activate D-amino acid oxidase. 9606.ENSP00000483764,TRIM64,449,Tripartite motif containing 64; Belongs to the TRIM/RBCC family. 9606.ENSP00000483781,CISD3,127,"CDGSH iron-sulfur domain-containing protein 3, mitochondrial; Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function. Belongs to the CISD protein family." 9606.ENSP00000483786,HPCAL1,193,Hippocalcin-like protein 1; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation; Belongs to the recoverin family. 9606.ENSP00000483811,GAGE13,117,G antigen 13. 9606.ENSP00000483814,NPRL3,569,"GATOR complex protein NPRL3; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway." 9606.ENSP00000483825,IKBKG,487,"NF-kappa-B essential modulator; Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either 'Lys-63'-linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activati [...] " 9606.ENSP00000483842,H2AC4,130,H2A clustered histone 4. 9606.ENSP00000483872,TSPAN33,283,"Tetraspanin-33; Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity. Mediates docking of ADAM10 to zonula adherens by interacting with ADAM10 and, in a PDZD11-dependent manner, with the zonula adherens protein PLEKHA7." 9606.ENSP00000483879,XKR5,686,XK-related protein 5; XK related 5. 9606.ENSP00000483888,NDUFB1,105,NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 9606.ENSP00000483897,LYZL6,148,"Lysozyme-like protein 6; May be involved sperm-egg plasma membrane adhesion and fusion during fertilization. Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus. Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH. Bacteriolytic activity is pH-dependent, with a maximum at around pH 5.6." 9606.ENSP00000483903,H2BC15,126,"Histone H2B type 1-N; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling." 9606.ENSP00000483921,SSBP2,369,Single stranded DNA binding protein 2. 9606.ENSP00000483930,FAM200B,657,Protein FAM200B; Family with sequence similarity 200 member B; Belongs to the FAM200 family. 9606.ENSP00000483936,SYTL3,610,Synaptotagmin-like protein 3; May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions (By similarity). 9606.ENSP00000483946,PHF19,599,"PHD finger protein 19; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases RIOX1 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing. Recruits the PRC2 complex to CpG islands and contributes to embryonic stem c [...] " 9606.ENSP00000483965,TBC1D3E,549,TBC1 domain family member 3E; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000483981,ELOA3,546,"Elongin-A3; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A3 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex)." 9606.ENSP00000483989,CSNK2B-2,304,Chimera CSNK2B-LY6G5B splicing isoform 991. 9606.ENSP00000484056,ZCCHC3,403,"Zinc finger CCHC domain-containing protein 3; Nucleic acid-binding protein involved in innate immune response to DNA and RNA viruses. Binds DNA and RNA in the cytoplasm and acts by promoting recognition of viral nucleic acids by virus sensors, such as DDX58/RIG-I, IFIH1/MDA5 and CGAS. Acts as a co-sensor for recognition of double-stranded DNA (dsDNA) by cGAS in the cytoplasm, thereby playing a role in innate immune response to cytosolic dsDNA and DNA virus. Binds dsDNA and probably acts by promoting sensing of dsDNA by CGAS, leading to enhance CGAS oligomerization and activation. Promo [...] " 9606.ENSP00000484060,PACSIN1,444,"Protein kinase C and casein kinase substrate in neurons protein 1; Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching [...] " 9606.ENSP00000484075,ENSP00000484075,313,G_PROTEIN_RECEP_F1_2 domain-containing protein. 9606.ENSP00000484078,CCL15,113,"C-C motif chemokine 15; Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15; Belongs to the intercrine beta (chemokine CC) family." 9606.ENSP00000484095,H3C7,136,H3 clustered histone 7. 9606.ENSP00000484105,PRIM2,509,"DNA primase large subunit; Regulatory subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase su [...] " 9606.ENSP00000484121,ARFIP2,374,"Arfaptin-2; Plays a role in constitutive metalloproteinase (MMP) secretion from the trans Golgi network. May have important functions during vesicle biogenesis at certain cargo subdomains, which could be predominantly utilized by secreted MMPs, such as MMP7 and MMP2. Participates also in autophagy by regulating the starvation-depdendent trafficking of ATG9A vesicles which deliver the PI4-kinase to the autophagosome initiation site. In addition, plays a role in NF-kappa-B inhibition by interacting with IKBKB and IKBKG." 9606.ENSP00000484135,COLCA2,251,Colorectal cancer associated 2. 9606.ENSP00000484175,MFSD1,514,Major facilitator superfamily domain containing 1. 9606.ENSP00000484176,CLEC18A,446,"C-type lectin domain family 18 member A; Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans." 9606.ENSP00000484181,TBC1D3K,549,TBC1 domain family member 3K; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). 9606.ENSP00000484228,ATRAID,284,All-trans retinoic acid-induced differentiation factor; Promotes osteoblast cell differentiation and terminal mineralization. Plays a role in inducing the cell cycle arrest via inhibiting CCND1 expression in all-trans-retinoic acid (ATRA) signal pathway. 9606.ENSP00000484237,PRAMEF7,474,PRAME family member 7; Belongs to the PRAME family. 9606.ENSP00000484252,TSGA10IP,556,Testis specific 10 interacting protein. 9606.ENSP00000484261,H2AB1,115,"Histone H2A-Bbd type 1; Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associat [...] " 9606.ENSP00000484263,TMEM114,223,Transmembrane protein 114. 9606.ENSP00000484288,LIG4,911,"DNA ligase 4; Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non- homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends." 9606.ENSP00000484342,NEB,8560,Nebulin; This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin. 9606.ENSP00000484343,SERPINB6,395,"Serpin B6; May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss." 9606.ENSP00000484383,TARM1,279,"T-cell-interacting, activating receptor on myeloid cells protein 1; May act as receptor (By similarity). Negatively regulates TCR-mediated CD4(+) T cell proliferation and activation, possibly by binding an unknown ligand on the T cell surface. Enhances Toll-like receptor-mediated production of pro-inflammatory cytokines by macrophages and neutrophils (By similarity)." 9606.ENSP00000484390,DAPK2,488,"Death-associated protein kinase 2; Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in g [...] " 9606.ENSP00000484398,SMTN,1002,Smoothelin; Structural protein of the cytoskeleton. 9606.ENSP00000484403,TPTE,551,Putative tyrosine-protein phosphatase TPTE; Could be involved in signal transduction. 9606.ENSP00000484411,HOXA3,443,Homeobox protein Hox-A3; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. 9606.ENSP00000484431,CD48,252,CD48 antigen; Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation. 9606.ENSP00000484443,NEK3,506,Serine/threonine-protein kinase Nek3; Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules. Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2. Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2. 9606.ENSP00000484472,EPPK1,5088,"Epiplakin; Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress. In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture. However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epitheliu [...] " 9606.ENSP00000484479,IFNA5,189,"Interferon alpha-5; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family." 9606.ENSP00000484492,RBIS,100,Ribosomal biogenesis factor; Trans-acting factor in ribosome biogenesis required for efficient 40S and 60S subunit production. 9606.ENSP00000484497,OVCH2,565,Ovochymase-2; Ovochymase 2. 9606.ENSP00000484525,CTDP1,961,"RNA polymerase II subunit A C-terminal domain phosphatase; Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M- phase-promoting factor (MPF)/CDK1 inactivation." 9606.ENSP00000484552,GJA5,358,"Gap junction alpha-5 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell." 9606.ENSP00000484580,PPP1R2,205,Protein phosphatase inhibitor 2; Inhibitor of protein-phosphatase 1. 9606.ENSP00000484596,LOC389831,120,Uncharacterized LOC389831. 9606.ENSP00000484601,CT45A10,189,Cancer/testis antigen family 45 member A10. 9606.ENSP00000484609,CRISP2,243,Cysteine-rich secretory protein 2; May regulate some ion channels' activity and therebye regulate calcium fluxes during sperm capacitation. 9606.ENSP00000484615,OBP2B,170,Odorant-binding protein 2b; Probably binds and transports small hydrophobic volatile molecules; Belongs to the calycin superfamily. Lipocalin family. 9606.ENSP00000484618,APELA,54,"Apelin receptor early endogenous ligand; Endogenous ligand for the apelin receptor (APLNR). Hormone required for mesendodermal differentiation, blood vessels formation and heart morphogenesis during early development and for adult cardiovascular homeostasis. Drives internalization of APLNR. Acts as a motogen by promoting mesendodermal cell migration during gastrulation by binding and activating APLNR. Acts as an early embryonic regulator of cellular movement with a role in migration and development of cardiac progenitor cells. May act as a chemoattractant for the activation of angiobla [...] " 9606.ENSP00000484621,TCP10,352,T-complex protein 10A homolog. 9606.ENSP00000484634,LRRC6,466,"Protein tilB homolog; May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility. Belongs to the tilB family." 9606.ENSP00000484638,H3C8,136,H3 clustered histone 8. 9606.ENSP00000484640,B3GNT6,384,"Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive organs; Belongs to the glycosyltransferase 31 family." 9606.ENSP00000484644,CHAC1,222,"Glutathione-specific gamma-glutamylcyclotransferase 1; Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides. Glutathione depletion is an important factor for apoptosis initiation and execution. Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade. Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Not [...] " 9606.ENSP00000484658,H3C3,136,H3 clustered histone 3. 9606.ENSP00000484668,GAGE1,117,"G antigen 1; Antigen, recognized on melanoma by autologous cytolytic T- lymphocytes. Completely silent in normal adult tissues, except testis; Belongs to the GAGE family." 9606.ENSP00000484669,CPSF1,1443,"Cleavage and polyadenylation specificity factor subunit 1; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction." 9606.ENSP00000484687,ZNHIT3,155,Zinc finger HIT-type containing 3. 9606.ENSP00000484689,IFITM2,132,"Interferon-induced transmembrane protein 2; IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBO [...] " 9606.ENSP00000484693,LOC101929738,429,Putative POM121-like protein 1. 9606.ENSP00000484710,EPOP,379,"Elongin BC and Polycomb repressive complex 2-associated protein; Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine- tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Inte [...] " 9606.ENSP00000484713,WASHC4,1174,"WASH complex subunit 4; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting." 9606.ENSP00000484715,SRCIN1,1183,"SRC kinase signaling inhibitor 1; Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance." 9606.ENSP00000484732,CASTOR2,329,"Cytosolic arginine sensor for mTORC1 subunit 2; Functions as a negative regulator of the TORC1 signaling pathway through the GATOR complex. As part of homodimers or heterodimers with CASTOR1, directly binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Does not directly bind arginine, but binding of arginine to CASTOR1 disrupts the interaction of CASTOR2- containing heterodimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway; Belongs to the GATS family." 9606.ENSP00000484736,TMEM120A,369,Transmembrane protein 120A; Necessary for efficient adipogenesis. Belongs to the TMEM120 family. 9606.ENSP00000484789,H4C5,103,H4 clustered histone 5. 9606.ENSP00000484803,FOXP1,693,Forkhead box P1. 9606.ENSP00000484804,ARMC9,818,LisH domain-containing protein ARMC9; Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). Involved in ciliogenesis (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity). 9606.ENSP00000484807,SPATA31A7,1347,Spermatogenesis-associated protein 31A7; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000484810,ZNF274,653,"Neurotrophin receptor-interacting factor homolog; Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions." 9606.ENSP00000484824,MUC1,484,Mucin-1 subunit alpha; The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack. 9606.ENSP00000484841,H3C2,136,H3 clustered histone 2. 9606.ENSP00000484852,ZNF283,679,Zinc finger protein 283; May be involved in transcriptional regulation. 9606.ENSP00000484855,EXOC5,708,Exocyst complex component 5; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. 9606.ENSP00000484862,ADAM29,820,Disintegrin and metalloproteinase domain-containing protein 29; May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein. 9606.ENSP00000484875,FOXD4L6,417,Forkhead box D4 like 6. 9606.ENSP00000484893,PIGBOS1,54,Protein PIGBOS1; Plays a role in regulation of the unfolded protein response triggered by endoplasmic reticulum (ER) stress resulting from the presence of unfolded proteins in the ER lumen. 9606.ENSP00000484903,MRPL45,306,Mitochondrial ribosomal protein L45. 9606.ENSP00000484918,ENSP00000484918,75,annotation not available 9606.ENSP00000484928,CDH4,916,Cadherin-4; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development. 9606.ENSP00000484940,TRDV1,34,"T cell receptor delta variable 1; V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition. Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair. Binding of gamma-delta TR [...] " 9606.ENSP00000484945,PRAC2,140,PRAC2 small nuclear protein. 9606.ENSP00000484998,PSMC6,403,"26S proteasome regulatory subunit 10B; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC6 belongs to the heterohexameric ring of AAA (ATPases associated wi [...] " 9606.ENSP00000485010,CIITA,1131,"MHC class II transactivator; Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirem [...] " 9606.ENSP00000485022,U2AF1L5,240,U2 small nuclear RNA auxiliary factor 1 like 5. 9606.ENSP00000485028,MUC13,512,Mucin-13; Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling. 9606.ENSP00000485031,DEFB133,61,Beta-defensin 133; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000485033,DOCK1,1886,"Dedicator of cytokinesis protein 1; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen. Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1." 9606.ENSP00000485074,ENSP00000485074,35,Uncharacterized protein. 9606.ENSP00000485097,TRIM49D2,452,Tripartite motif containing 49D2. 9606.ENSP00000485108,UBTFL1,393,Upstream-binding factor 1-like protein 1; Essential for proliferation of the inner cell mass and trophectodermal cells in peri-implantation development. 9606.ENSP00000485112,OR12D2,307,Olfactory receptor 12D2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485117,PSG7,297,Pregnancy specific beta-1-glycoprotein 7. 9606.ENSP00000485118,SPATA31A3,1347,Spermatogenesis-associated protein 31A3; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000485129,LOC102723996,302,"ICOS ligand; Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co-stimulating memory T-cell function (By similarity)." 9606.ENSP00000485141,DEFB131B,70,Beta-defensin 131B; Has antibacterial activity; Belongs to the beta-defensin family. 9606.ENSP00000485156,OR1S1,325,Olfactory receptor 1S1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485206,PPIAL4A,164,Peptidyl-prolyl cis-trans isomerase A-like 4A; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). 9606.ENSP00000485216,MTLN,138,Mitoregulin; Positively regulates mitochondrial complex assembly and/or stability (By similarity). Increases mitochondrial membrane potential and mitochondrial respiration rate awhile decreasing mitochondrial reactive oxygen species. Also increases mitochondrial calcium retention capacity. Belongs to the mitoregulin family. 9606.ENSP00000485228,ZSCAN26,478,Zinc finger and SCAN domain-containing protein 26; May be involved in transcriptional regulation. 9606.ENSP00000485230,SPDYE6,402,Speedy protein E6; speedy/RINGO cell cycle regulator family member E6; Belongs to the Speedy/Ringo family. 9606.ENSP00000485238,FER1L5,2057,Fer-1-like protein 5; Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation. 9606.ENSP00000485240,OR5AR1,310,Olfactory receptor 5AR1; Odorant receptor. 9606.ENSP00000485243,USP17L4,530,Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4; Ubiquitin specific peptidase 17 like family member 4. 9606.ENSP00000485258,PRAMEF9,478,PRAME family member 9. 9606.ENSP00000485259,ENSP00000485259,274,Uncharacterized protein. 9606.ENSP00000485276,SCARF2,871,"Scavenger receptor class F member 2; Probable adhesion protein, which mediates homophilic and heterophilic interactions. In contrast to SCARF1, it poorly mediates the binding and degradation of acetylated low density lipoprotein (Ac- LDL) (By similarity)." 9606.ENSP00000485287,OR2L8,312,Olfactory receptor 2L8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485292,OR52R1,315,Olfactory receptor 52R1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485295,OR4C16,310,Olfactory receptor 4C16; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485306,USP17L8,530,Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8; Ubiquitin specific peptidase 17 like family member 8. 9606.ENSP00000485316,SMIM26,95,Small integral membrane protein 26. 9606.ENSP00000485319,OR5L1,311,Olfactory receptor 5L1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485323,USP17L3,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 3; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000485324,OR5R1,324,Olfactory receptor 5R1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485337,USP17L7,530,Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7; Ubiquitin specific peptidase 17 like family member 7. 9606.ENSP00000485357,HMCN2,5059,Hemicentin-2; Hemicentin 2. 9606.ENSP00000485364,USP17L1,530,"Ubiquitin carboxyl-terminal hydrolase 17-like protein 1; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection." 9606.ENSP00000485370,FAM25C,89,Family with sequence similarity 25 member C. 9606.ENSP00000485378,TRIM39-RPP21,503,Ribonuclease P protein subunit p21; TRIM39-RPP21 readthrough. 9606.ENSP00000485398,SPDYE5,402,Speedy protein E5; speedy/RINGO cell cycle regulator family member E5; Belongs to the Speedy/Ringo family. 9606.ENSP00000485401,UQCRHL,91,"Cytochrome b-c1 complex subunit 6-like, mitochondrial; May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1." 9606.ENSP00000485407,OR51B2,312,Olfactory receptor 51B2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485428,OR5D13,314,Olfactory receptor 5D13; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485431,OR4X2,303,Olfactory receptor 4X2; Odorant receptor. 9606.ENSP00000485448,ZNF727,499,Putative zinc finger protein 727; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000485450,HNRNPCL4,293,Heterogeneous nuclear ribonucleoprotein C like 4. 9606.ENSP00000485467,TP53TG3E,124,TP53 target 3 family member E. 9606.ENSP00000485473,PRAMEF18,479,PRAME family member 18; Belongs to the PRAME family. 9606.ENSP00000485478,CDHR1,859,Cadherin-related family member 1; Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity). 9606.ENSP00000485483,OR2F1,317,Olfactory receptor 2F1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485484,SMIM11B,58,Small integral membrane protein 11B; Belongs to the SMIM11 family. 9606.ENSP00000485512,QRFP,136,"Orexigenic neuropeptide QRFP; Stimulates feeding behavior, metabolic rate and locomotor activity and increases blood pressure. May have orexigenic activity. May promote aldosterone secretion by the adrenal gland (By similarity). Belongs to the RFamide neuropeptide family." 9606.ENSP00000485513,WASHC2C,1341,WASH complex subunit 2C; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation- promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex pro [...] 9606.ENSP00000485524,C8orf89,161,Putative uncharacterized protein C8orf89; Chromosome 8 open reading frame 89. 9606.ENSP00000485525,ADSL,484,"Adenylosuccinate lyase; Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4- carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate." 9606.ENSP00000485526,RASSF10,507,Ras association domain-containing protein 10; Plays an important role in regulating embryonic neurogenesis. 9606.ENSP00000485527,CBSL,565,Cystathionine beta-synthase like. 9606.ENSP00000485530,OR52B4,314,Olfactory receptor 52B4; Odorant receptor. 9606.ENSP00000485532,SERPINB11,305,"Serpin B11; Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing conformational change." 9606.ENSP00000485541,MAGEA2,314,MAGE family member A2. 9606.ENSP00000485547,ZNF735,412,Putative zinc finger protein 735; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000485552,SAA2-SAA4,208,SAA2-SAA4 readthrough. 9606.ENSP00000485577,OR1B1,318,Olfactory receptor 1B1; Odorant receptor. 9606.ENSP00000485582,CERS1,372,Ceramide synthase 1. 9606.ENSP00000485586,NXF2,626,Nuclear RNA export factor 2. 9606.ENSP00000485609,OR10X1,326,Olfactory receptor 10X1; Odorant receptor. 9606.ENSP00000485612,OR51G1,321,Olfactory receptor 51G1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000485614,ZNF518A,1483,Zinc finger protein 518A; May be involved in transcriptional regulation. 9606.ENSP00000485615,ENSP00000485615,203,"Novel protein, similar to trafficking protein particle complex 10 TRAPPC10." 9606.ENSP00000485627,WASHC1,465,"WASH complex subunit 1; Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma m [...] " 9606.ENSP00000485628,SPATA31A5,1347,Spermatogenesis-associated protein 31A5; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000485630,ENSP00000485630,279,Utp12 domain-containing protein. 9606.ENSP00000485635,TP53TG3F,124,TP53 target 3 family member F. 9606.ENSP00000485638,PPIAL4F,164,Peptidylprolyl isomerase A like 4F. 9606.ENSP00000485656,PRAMEF26,478,PRAME family member 26. 9606.ENSP00000485659,MUC5AC,5654,"Mucin-5AC; Gel-forming glycoprotein of gastric and respiratory tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microorganisms and particles that are subsequently removed by the mucociliary system. Interacts with H.pylori in the gastric epithelium, Barrett's esophagus as well as in gastric metaplasia of the duodenum (GMD)." 9606.ENSP00000485661,OR8D2,311,Olfactory receptor 8D2; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000485664,ENSP00000485664,155,Uncharacterized protein. 9606.ENSP00000485668,LINC02203-2,316,Olfactory receptor. 9606.ENSP00000485698,MTRES1,245,Mitochondrial transcription rescue factor 1; Mitochondrial RNA-binding protein involved in mitochondrial transcription regulation. Functions as a protective factor to maintain proper mitochondrial RNA level during stress. Acts at the transcription level and its protective function depends on its RNA binding ability. 9606.ENSP00000485750,ZNF280B,543,Zinc finger protein 280B; May function as a transcription factor. 9606.ENSP00000485952,LOC112694756,368,Fructose-bisphosphate aldolase; Belongs to the class I fructose-bisphosphate aldolase family. 9606.ENSP00000486109,TRPC4,982,"Short transient receptor potential channel 4; Forms a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G- protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion; Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily." 9606.ENSP00000486146,SMIM7,103,Small integral membrane protein 7. 9606.ENSP00000486230,SYT14,619,Synaptotagmin-14; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent; Belongs to the synaptotagmin family. 9606.ENSP00000486252,RPS4Y2,263,Ribosomal protein S4 Y-linked 2; Belongs to the eukaryotic ribosomal protein eS4 family. 9606.ENSP00000486285,FARP1,1076,"FERM, ARHGEF and pleckstrin domain-containing protein 1; Functions as guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity)." 9606.ENSP00000486291,SUGCT,471,"Succinate--hydroxymethylglutarate CoA-transferase; Catalyzes the succinyl-CoA-dependent conversion of glutarate to glutaryl-CoA. Can use different dicarboxylic acids as CoA acceptors, the preferred ones are glutarate, succinate, adipate, and 3- hydroxymethylglutarate; Belongs to the CoA-transferase III family." 9606.ENSP00000486357,PPIP5K2,1278,"Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylate [...] " 9606.ENSP00000486361,DBI,148,Acyl-CoA-binding protein; Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor; Belongs to the ACBP family. 9606.ENSP00000486502,ZIM2,527,Zinc finger imprinted 2; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000486540,CNOT9,331,"CCR4-NOT transcription complex subunit 9; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down- regulation of MYB- and JUN-dependent transcription. May play a role in cell differentiation (By similarity). Can bind oligonucleotides, such as poly-G, poly-C [...] " 9606.ENSP00000486574,UBAP1,566,"Ubiquitin-associated protein 1; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2." 9606.ENSP00000486623,ENSP00000486623,127,Novel protein. 9606.ENSP00000486676,TREX1,314,"Three-prime repair exonuclease 1; Major cellular 3'-to-5' DNA exonuclease which digests single- stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini. Prevents cell-intrinsic initiation of autoimmunity. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements. Unless degraded, these DNA fragments accumulate in the cytosol and activate the IFN-stimulatory DNA (ISD) response and innate immune signaling. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the pr [...] " 9606.ENSP00000486687,TIGD2,525,Tigger transposable element derived 2. 9606.ENSP00000486725,PPIL2,527,"RING-type E3 ubiquitin-protein ligase PPIL2; Has a ubiquitin-protein ligase activity acting as an E3 ubiquitin protein ligase or as an ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. By mediating 'Lys-48'- linked polyubiquitination of proteins could target them for proteasomal degradation. May also function as a chaperone, playing a role in transport to the cell membrane of BSG/Basigin for instance. Probable inactive PPIase with no peptidyl- prolyl cis-trans isomerase activity. Belongs to the cyclophilin-type PPIase family. PPIL2 subfamily." 9606.ENSP00000486891,TCF7L2,602,"Transcription factor 7-like 2; Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of [...] " 9606.ENSP00000486901,MICAL1,1086,"[F-actin]-monooxygenase MICAL1; Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (By similarity). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involv [...] " 9606.ENSP00000487041,COBLL1,1233,Cordon-bleu WH2 repeat protein like 1. 9606.ENSP00000487061,CCDC163,118,Transmembrane protein CCDC163; Coiled-coil domain containing 163. 9606.ENSP00000487073,NANOGP8,305,"Homeobox protein NANOGP8; May act as a transcription regulator (By similarity). When overexpressed, promotes entry of cells into S phase and cell proliferation; Belongs to the Nanog homeobox family." 9606.ENSP00000487094,ENSP00000487094,43,"Novel protein, lncRNA-POLR3GL readthrough." 9606.ENSP00000487136,OXNAD1,330,Oxidoreductase NAD-binding domain-containing protein 1; Oxidoreductase NAD binding domain containing 1. 9606.ENSP00000487146,ENSP00000487146,128,Novel ret finger protein-like 4B. 9606.ENSP00000487164,VPS8,1428,"Vacuolar protein sorting-associated protein 8 homolog; Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpo [...] " 9606.ENSP00000487174,ZEB2,1214,Zinc finger E-box-binding homeobox 2; Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E-cadherin. 9606.ENSP00000487183,ZNF793,406,Zinc finger protein 793; May be involved in transcriptional regulation. 9606.ENSP00000487221,FAM122B,266,Protein FAM122B; Family with sequence similarity 122B; Belongs to the FAM122 family. 9606.ENSP00000487358,THEMIS,680,Protein THEMIS; Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk. Belongs to the themis family. 9606.ENSP00000487363,HAVCR1,401,Hepatitis A virus cellular receptor 1; May play a role in T-helper cell development and the regulation of asthma and allergic diseases. Receptor for TIMD4 (By similarity). May play a role in kidney injury and repair. (Microbial infection) Acts as a receptor for Ebolavirus and Marburg virus by binding exposed phosphatidyl-serine at the surface of virion membrane; Belongs to the immunoglobulin superfamily. TIM family. 9606.ENSP00000487365,HSPH1,860,"Heat shock protein 105 kDa; Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release. Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity)." 9606.ENSP00000487444,SPTAN1,2498,"Spectrin alpha chain, non-erythrocytic 1; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane." 9606.ENSP00000487603,OVOL3,190,Putative transcription factor ovo-like protein 3; May act as a transcription regulator; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000487693,PITPNB,273,Phosphatidylinositol transfer protein beta isoform; Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes. 9606.ENSP00000487709,SMIM10L2B,78,Small integral membrane protein 10 like 2B. 9606.ENSP00000487717,ENSP00000487717,310,Uncharacterized protein. 9606.ENSP00000487719,TUBA4B,241,Putative tubulin-like protein alpha-4B; Tubulin alpha 4b. 9606.ENSP00000487772,SPDYE16,312,speedy/RINGO cell cycle regulator family member E16; Belongs to the Speedy/Ringo family. 9606.ENSP00000487785,KCNA2,499,"Potassium voltage-gated channel subfamily A member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form funct [...] " 9606.ENSP00000487800,TMEM132E,1074,Transmembrane protein 132E; Required for normal inner ear hair cell function and hearing. Belongs to the TMEM132 family. 9606.ENSP00000487971,LPIN3,852,"Phosphatidate phosphatase LPIN3; Regulates fatty acid metabolism. Magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis (By similarity)." 9606.ENSP00000488022,TEX13C,993,Putative testis-expressed protein 13C; TEX13 family member C; Belongs to the TEX13 family. 9606.ENSP00000488024,SLC22A18AS,150,Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein; Solute carrier family 22 member 18 antisense. 9606.ENSP00000488117,SPATA31D3,917,Spermatogenesis-associated protein 31D3; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000488251,SPATA31D4,917,Spermatogenesis-associated protein 31D4; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000488257,MAGEB6B,407,MAGE family member B6B. 9606.ENSP00000488302,PNMA6F,578,Paraneoplastic antigen Ma6F; PNMA family member 6F. 9606.ENSP00000488305,NCBP2AS2,99,Protein NCBP2AS2; NCBP2 antisense 2. 9606.ENSP00000488361,BECN2,431,Beclin-2; Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G-protein coupled receptors turnover. Regulates degradation in lysosomes of a variety of G-protein coupled receptors via its interaction with GPRASP1/GASP1. 9606.ENSP00000488404,PNMA6E,369,Paraneoplastic antigen Ma6E; PNMA family member 6E. 9606.ENSP00000488422,CELF2,533,"CUGBP Elav-like family member 2; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes [...] " 9606.ENSP00000488437,PRSS2,261,"Trypsin-2; In the ileum, may be involved in defensin processing, including DEFA5; Belongs to the peptidase S1 family." 9606.ENSP00000488481,PLIN4,1372,Perilipin-4; May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity); Belongs to the perilipin family. 9606.ENSP00000488520,NPHP3-ACAD11,232,NPHP3-ACAD11 readthrough. 9606.ENSP00000488558,LINC00514,536,Long intergenic non-protein coding RNA 514. 9606.ENSP00000488568,MEIKIN,373,"Meiosis-specific kinetochore protein; Key regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase- mediated cleavage. Acts by facilitating kinetochore mono-orientation during meiosis I, when kinetochores on sister chromosomes face the same direction and are thus captured and pulled by spindle fibers from the same pole. Also required to prevent cleavage of cohesin at centromeres during meiosis I, possibly by acting as a regulator of the shugoshin- dependent protection [...] " 9606.ENSP00000488642,TENT4A,542,Terminal nucleotidyltransferase 4A; Terminal nucleotidyltransferase that catalyzes preferentially the transfert of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation. Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no t [...] 9606.ENSP00000488643,SMIM10L2A,78,Small integral membrane protein 10 like 2A. 9606.ENSP00000488668,NHSL2,1225,NHS-like protein 2; NHS like 2; Belongs to the NHS family. 9606.ENSP00000488696,TEX13D,714,Testis-expressed protein 13D; TEX13 family member D; Belongs to the TEX13 family. 9606.ENSP00000488748,MRLN,46,"Myoregulin; Inhibits the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+), thereby acting as a key regulator of skeletal muscle activity. Its high expression in adult skeletal muscle, suggests that it constitutes the predominant regulator of ATP2A1/SERCA1 in adult skeletal muscle." 9606.ENSP00000488802,ENSP00000488802,290,Uncharacterized protein. 9606.ENSP00000488838,PON2,354,"Serum paraoxonase/arylesterase 2; Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis; Belongs to the paraoxonase family." 9606.ENSP00000488907,SMIM10L1,68,Small integral membrane protein 10 like 1. 9606.ENSP00000488912,CRHR1-2,240,LINC02210-CRHR1 readthrough. 9606.ENSP00000488929,CCDC149,540,Coiled-coil domain containing 149. 9606.ENSP00000488958,GLYATL1B,302,Putative glycine N-acyltransferase-like protein 1B; Putative acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor. Belongs to the glycine N-acyltransferase family. 9606.ENSP00000488973,DPEP2NB,123,DPEP2 neighbor. 9606.ENSP00000488984,ENSP00000488984,324,Uncharacterized protein. 9606.ENSP00000488995,NLRP2B,45,"NLR family pyrin domain-containing protein 2B; May function as a negative regulator of NF-kappa-B by preventing RELA/p65 phosphorylation at 'Ser-536', thereby inhibiting its transcriptional activity. Through NF-kappa-B regulation may control cytokine release upon Toll-like receptors activation and therefore play a role in modulation of innate immunity. May also play a role in cell cycle progression and apoptotic process." 9606.ENSP00000489024,KLF18,1052,Kruppel like factor 18. 9606.ENSP00000489061,C1GALT1C1L,315,C1GALT1-specific chaperone 1-like protein; C1GALT1 specific chaperone 1 like. 9606.ENSP00000489123,SCYL2,933,"SCY1-like protein 2; Component of AP2-containing clathrin coated structures at the plasma membrane or of endocytic coated vesicles. According to probable serine/threonine-protein kinase that phosphorylates, in vitro, the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine. According to has no detectable kinase activity in vitro. May regulate clathrin-dependent trafficking between the TGN and/or the endosomal system." 9606.ENSP00000489149,TMEM275,177,Transmembrane protein 275. 9606.ENSP00000489180,ERVK3-1,116,Endogenous retrovirus group K3 member 1. 9606.ENSP00000489189,BAG1,345,"BAG family molecular chaperone regulator 1; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70. Inhibits the pro-apoptotic function of PPP1R15A, and has anti-apoptotic activity. Markedly increases the anti-cell death f [...] " 9606.ENSP00000489225,CSMD1,3564,CUB and sushi domain-containing protein 1; Potential suppressor of squamous cell carcinomas. 9606.ENSP00000489236,H4C8,103,H4 clustered histone 8. 9606.ENSP00000489262,RYR3,4870,Ryanodine receptor 3; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling. 9606.ENSP00000489273,CENPVL1,272,Centromere protein V like 1. 9606.ENSP00000489282,H3C6,136,H3 clustered histone 6. 9606.ENSP00000489311,hCG_2039566,169,Histone H2A; Belongs to the histone H2A family. 9606.ENSP00000489317,H2BC6,126,H2B clustered histone 6. 9606.ENSP00000489320,C1orf232,186,Uncharacterized protein C1orf232; Chromosome 1 open reading frame 230. 9606.ENSP00000489328,CENPVL2,272,Centromere protein V like 2. 9606.ENSP00000489407,SHANK3,1724,"SH3 and multiple ankyrin repeat domains protein 3; Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex [...] " 9606.ENSP00000489429,ENSP00000489429,63,Uncharacterized protein. 9606.ENSP00000489442,EXOC6B,815,Exocyst complex component 6B; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. 9606.ENSP00000489547,CENPVL3,287,Centromere protein V like 3. 9606.ENSP00000489551,NRXN3,1571,Neurexin-3; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling. 9606.ENSP00000489570,LBHD2,108,LBH domain containing 2. 9606.ENSP00000489583,NBDY,68,Negative regulator of P-body association; Promotes dispersal of P-body components and is likely to play a role in the mRNA decapping process. 9606.ENSP00000489585,FAM205C,338,Protein FAM205C; Family with sequence similarity 205 member C. 9606.ENSP00000489588,MMP24OS,71,Protein MMP24OS; MMP24 opposite strand. 9606.ENSP00000489597,PTPN11,597,"Tyrosine-protein phosphatase non-receptor type 11; Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway. Dephosphorylates GAB1, ARHGAP35 and EGFR. Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73." 9606.ENSP00000489616,SPTY2D1OS,59,Putative transmembrane protein SPTY2D1OS; SPTY2D1 opposite strand. 9606.ENSP00000489619,MBD3L2B,204,methyl-CpG binding domain protein 3 like 2B. 9606.ENSP00000489624,TUNAR,48,TCL1 upstream neural differentiation-associated RNA. 9606.ENSP00000489630,C11orf53,236,Uncharacterized protein C11orf53; Chromosome 11 open reading frame 53. 9606.ENSP00000489642,C3orf85,90,Uncharacterized protein C3orf85; Chromosome 3 open reading frame 85. 9606.ENSP00000489648,UMAD1,137,UBAP1-MVB12-associated domain containing 1. 9606.ENSP00000489652,TEX49,131,Testis-expressed protein 49; Testis expressed 49. 9606.ENSP00000489658,CNTNAP3C,492,Contactin associated protein family member 3C. 9606.ENSP00000489674,HSPA12A,692,"Heat shock 70 kDa protein 12A; Adapter protein for SORL1, but not SORT1. Delays SORL1 internalization and affects SORL1 subcellular localization." 9606.ENSP00000489675,DNAH10,4471,"Dynein heavy chain 10, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Probable inner arm dynein heavy chain." 9606.ENSP00000489684,C10orf95,213,Uncharacterized protein C10orf95; Chromosome 10 open reading frame 95. 9606.ENSP00000489685,IQANK1,560,IQ motif and ankyrin repeat containing 1. 9606.ENSP00000489687,GK3P,553,Glycerol kinase 3; Key enzyme in the regulation of glycerol uptake and metabolism; Belongs to the FGGY kinase family. 9606.ENSP00000489695,ENSP00000489695,36,Uncharacterized protein. 9606.ENSP00000489704,CSNKA2IP,734,Casein kinase II subunit alpha'-interacting protein; May play a role in chromatin regulation of male germ cells. 9606.ENSP00000489706,TMEM191C,347,Transmembrane protein 191C. 9606.ENSP00000489710,LOC100505841,108,Uncharacterized protein. 9606.ENSP00000489712,CCDC201,187,Coiled-coil domain containing 201. 9606.ENSP00000489727,hCG_1796489,334,HCG1796489. 9606.ENSP00000489733,TSTD3,97,Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3; Thiosulfate sulfurtransferase like domain containing 3. 9606.ENSP00000489739,FAM236D,79,Protein FAM236C; Family with sequence similarity 236 member D; Belongs to the FAM236 family. 9606.ENSP00000489747,C20orf204,189,Uncharacterized protein C20orf204; Chromosome 20 open reading frame 204. 9606.ENSP00000489748,MPC1L,136,Mitochondrial pyruvate carrier 1 like. 9606.ENSP00000489770,PPP4R3C,832,Protein phosphatase 4 regulatory subunit 3C. 9606.ENSP00000489774,DLGAP2,1055,Disks large-associated protein 2; May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD- 95/SAP90 at the plasma membrane; Belongs to the SAPAP family. 9606.ENSP00000489776,TEX51,166,Testis-expressed protein 51; Testis expressed 51. 9606.ENSP00000489784,SMIM29,159,Small integral membrane protein 29. 9606.ENSP00000489796,POU5F2,328,"POU domain, class 5, transcription factor 2; Transcription factor that binds preferentially to the octamer motif (5'-ATGTTAAT-3'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (By similarity)." 9606.ENSP00000489806,CXorf51A,108,Uncharacterized protein CXorf51A; Chromosome X open reading frame 51A. 9606.ENSP00000489807,SPRR5,108,Small proline rich protein 5. 9606.ENSP00000489814,HSFX4,333,"Heat shock transcription factor family, X-linked member 4." 9606.ENSP00000489829,CACNA1A,2512,"Voltage-dependent P/Q-type calcium channel subunit alpha-1A; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q- type calcium currents. P/Q-type calcium channels belong to the 'high- voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). [...] " 9606.ENSP00000489837,CTXND1,59,Cortexin domain containing 1. 9606.ENSP00000489859,STRIT1,35,"Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF; Enhances the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by displacing ATP2A1/SERCA1 inhibitors, thereby acting as a key regulator of skeletal muscle activity. Does not directly stimulate SERCA pump activity. Enhances sarcoplasmic reticulum Ca(2+) uptake and myocyte contractility by displacing the SERCA inhibitory peptides sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN)." 9606.ENSP00000489863,TEX52,305,Testis-expressed protein 52; Testis expressed 52. 9606.ENSP00000489869,LMLN2,788,Leishmanolysin-like peptidase 2; Metalloprotease. 9606.ENSP00000489890,TEX50,177,Testis-expressed protein 50; Testis expressed 50. 9606.ENSP00000489894,FAM236B,79,Protein FAM236A; Family with sequence similarity 236 member B; Belongs to the FAM236 family. 9606.ENSP00000489898,CCDC196,297,Putative coiled-coil domain-containing protein 196; Coiled-coil domain containing 196. 9606.ENSP00000489910,ENSP00000489910,582,Peptidase A1 domain-containing protein; Belongs to the peptidase A1 family. 9606.ENSP00000489939,SMIM28,152,Small integral membrane protein 28. 9606.ENSP00000489944,TEX53,70,Testis-expressed protein 53; Testis expressed 53. 9606.ENSP00000489959,CDCP2,540,CUB domain containing protein 2. 9606.ENSP00000490013,C5orf58,81,Putative uncharacterized protein C5orf58; Chromosome 5 open reading frame 58. 9606.ENSP00000490028,SMIM32,103,Small integral membrane protein 32. 9606.ENSP00000490029,CCDC195,201,Putative coiled-coil domain-containing protein 195; Coiled-coil domain containing 195. 9606.ENSP00000490032,C13orf46,212,Uncharacterized protein C13orf46; Chromosome 13 open reading frame 46. 9606.ENSP00000490038,RAB6D,254,"Ras-related protein Rab-6D; RAB6D, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000490048,MYOCOS,107,Myocilin opposite strand. 9606.ENSP00000490055,ETDA,59,Embryonic testis differentiation homolog A. 9606.ENSP00000490059,ZNF883,379,Zinc finger protein 883; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000490083,ATP6AP2,350,"Renin receptor C-terminal fragment; Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the proton- transporting vacuolar (V)-ATPase protein pump. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS). Probably by controlling the assembly of the V-ATPase pump and thus the acidification of the endo-lysosomal system, plays a role in many neuronal [...] " 9606.ENSP00000490086,CCDC197,272,Uncharacterized protein CCDC197; Coiled-coil domain containing 197. 9606.ENSP00000490095,SMIM30,59,Small integral membrane protein 30. 9606.ENSP00000490097,FAM240B,78,Protein FAM240B; Family with sequence similarity 240 member B; Belongs to the FAM240 family. 9606.ENSP00000490107,SCN2A,2005,"Sodium channel protein type 2 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity). Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily." 9606.ENSP00000490116,LCOR,1557,"Ligand-dependent corepressor; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3' (By similarity). Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand-dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR." 9606.ENSP00000490119,RALGAPA1,2495,Ral GTPase-activating protein subunit alpha-1; Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB. 9606.ENSP00000490135,TRPC5OS,111,Putative uncharacterized protein TRPC5OS; TRPC5 opposite strand. 9606.ENSP00000490139,PNMA8C,204,Paraneoplastic antigen-like protein 8C; PNMA family member 8C; Belongs to the PNMA family. 9606.ENSP00000490143,MYMX,84,"Protein myomixer; Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK. Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation. Acts independently of MYMK. Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers. Belongs to the MYMX family." 9606.ENSP00000490163,ENSP00000490163,405,Protein kinase domain-containing protein. 9606.ENSP00000490174,NPY4R2,375,"Neuropeptide Y receptor type 4-2; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13-36) > PP (31-36) > NPY free acid." 9606.ENSP00000490187,SPAAR,75,"Small regulatory polypeptide of amino acid response; [Isoform 2]: Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids. Negatively regulates mTORC1 activation by inhibiting recruitment of mTORC1 to lysosomes upon stimulation with amino acids: acts by promoting the formation of a tightly bound supercomplex composed of the lysosomal V- ATPase, Ragulator and Rag GTPases, preventing recruitment of mTORC1. Acts as a regulator of muscle regeneration following injury by regulating mTORC1 act [...] " 9606.ENSP00000490209,SMIM34B,139,Small integral membrane protein 34B. 9606.ENSP00000490220,C19orf85,222,Uncharacterized protein C19orf85; Chromosome 19 open reading frame 85. 9606.ENSP00000490225,UBE2L5,154,Ubiquitin-conjugating enzyme E2 L5; Catalyzes the covalent attachment of ubiquitin to other proteins. 9606.ENSP00000490233,C10orf143,108,Uncharacterized protein C10orf143; Chromosome 10 open reading frame 143. 9606.ENSP00000490240,ZNF831,1677,Zinc finger protein 831. 9606.ENSP00000490245,C17orf113,675,Transmembrane protein C17orf113; Chromosome 17 open reading frame 113. 9606.ENSP00000490255,ENSP00000490255,79,Uncharacterized protein. 9606.ENSP00000490263,TEX48,120,Testis-expressed protein 48; Testis expressed 48. 9606.ENSP00000490264,LOC102723971,181,Lipocln_cytosolic_FA-bd_dom domain-containing protein; Belongs to the calycin superfamily. Lipocalin family. 9606.ENSP00000490274,SPEM3,1196,Uncharacterized protein SPEM3; SPEM family member 3. 9606.ENSP00000490275,SMIM27,55,Small integral membrane protein 27. 9606.ENSP00000490280,ATP6V1FNB,176,Protein ATP6V1FNB; ATP6V1F neighbor. 9606.ENSP00000490292,MARCOL,285,MARCO-like protein; MARCO like. 9606.ENSP00000490294,CXorf51B,108,Chromosome X open reading frame 51B. 9606.ENSP00000490297,PPP1R2B,205,Protein phosphatase inhibitor 2 family member B; Inhibitor of protein-phosphatase 1. 9606.ENSP00000490314,ENSP00000490314,45,Uncharacterized protein. 9606.ENSP00000490318,GOLGA6L7,622,Golgin subfamily A member 6-like protein 7; Golgin A6 family like 7; Belongs to the GOLGA6 family. 9606.ENSP00000490336,PPP1R2C,202,Protein phosphatase inhibitor 2 family member C; Functions as a protein phosphatase inhibitor. It inhibits activity of the catalytic subunit of PP1 and weakly inhibits the activity of myosin-associated phosphates. 9606.ENSP00000490343,FAM236A,79,Family with sequence similarity 235 member A. 9606.ENSP00000490375,CLEC19A,186,C-type lectin domain containing 19A. 9606.ENSP00000490393,TEPSIN,593,AP-4 complex accessory subunit Tepsin; Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network. 9606.ENSP00000490412,REELD1,526,Reelin domain-containing protein 1; Reeler domain containing 1. 9606.ENSP00000490418,CTXND2,55,Cortexin domain containing 2. 9606.ENSP00000490424,ENSP00000490424,52,Uncharacterized protein. 9606.ENSP00000490444,ENSP00000490444,256,Uncharacterized protein. 9606.ENSP00000490456,RNF227,190,Ring finger protein 227. 9606.ENSP00000490466,FAM237B,139,Protein FAM237B; Family with sequence similarity 237 member B. 9606.ENSP00000490491,ARID1B,2289,"AT-rich interactive domain-containing protein 1B; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/ [...] " 9606.ENSP00000490504,CCDC194,234,Coiled-coil domain containing 194. 9606.ENSP00000490507,TEX54,124,Testis-expressed protein 54; Testis expressed 54. 9606.ENSP00000490517,C13orf42,325,Uncharacterized protein C13orf42; Chromosome 13 open reading frame 42. 9606.ENSP00000490518,IQCM,501,IQ motif containing M. 9606.ENSP00000490530,ENSP00000490530,797,Uncharacterized protein. 9606.ENSP00000490537,TTC34,566,Tetratricopeptide repeat domain 34. 9606.ENSP00000490543,FAM236C,79,Family with sequence similarity 236 member C. 9606.ENSP00000490556,FAM240A,89,Protein FAM240A; Family with sequence similarity 240 member A; Belongs to the FAM240 family. 9606.ENSP00000490566,TMEM238L,79,Transmembrane protein 238 like. 9606.ENSP00000490573,TCAF2C,712,TRPM8 channel associated factor 2C. 9606.ENSP00000490576,ETDC,59,Embryonic testis differentiation homolog C. 9606.ENSP00000490577,C11orf97,126,Uncharacterized protein C11orf97; Chromosome 11 open reading frame 97. 9606.ENSP00000490579,CCDC192,292,Coiled-coil domain containing 192. 9606.ENSP00000490584,TINCR,87,TINCR ubiquitin domain containing. 9606.ENSP00000490587,C2orf92,265,Uncharacterized protein C2orf92; Chromosome 2 open reading frame 92. 9606.ENSP00000490609,CCDC200,168,Coiled-coil domain containing 200. 9606.ENSP00000490614,DCX,366,"Neuronal migration protein doublecortin; Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration." 9606.ENSP00000490626,FAM240C,95,Protein FAM240C; Family with sequence similarity 240 member C; Belongs to the FAM240 family. 9606.ENSP00000490638,MDFIC2,189,MyoD family inhibitor domain containing 2. 9606.ENSP00000490644,SMIM36,93,Small integral membrane protein 36. 9606.ENSP00000490666,SMIM35,85,Small integral membrane protein 35. 9606.ENSP00000490685,LITAFD,72,LITAF domain-containing protein; LITAF domain containing; Belongs to the CDIP1/LITAF family. 9606.ENSP00000490697,ENSP00000490697,172,Uncharacterized protein. 9606.ENSP00000490699,SMIM31,71,Small integral membrane protein 31. 9606.ENSP00000490716,TMEM269,245,Transmembrane protein 269. 9606.ENSP00000490718,TMEM272,187,Transmembrane protein 272. 9606.ENSP00000490726,FBF1,1148,Fas-binding factor 1; Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis. 9606.ENSP00000490735,ENSP00000490735,77,Uncharacterized protein. 9606.ENSP00000490744,ABHD14A-ACY1,586,ABHD14A-ACY1 readthrough. 9606.ENSP00000490747,MIEF1-2,70,MIEF1 upstream open reading frame protein; Involved in the regulation of mitochondrial fission mediated by DNM1L. Positively regulates mitochondrial translation. May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). 9606.ENSP00000490760,EXOC1L,172,Exocyst complex component 1 like. 9606.ENSP00000490767,ING5,254,"Inhibitor of growth protein 5; Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator. Inhibits cell growth, induces a delay in S-phase progression and enhances Fas-induced apoptosis in an INCA1-dependent manner." 9606.ENSP00000490782,SMIM39,56,Small integral membrane protein 39. 9606.ENSP00000490796,SMIM33,132,Small integral membrane protein 33. 9606.ENSP00000490802,FAM237A,181,Protein FAM237A; Family with sequence similarity 237 member A. 9606.ENSP00000490806,PLEKHG4B,1627,Pleckstrin homology and RhoGEF domain containing G4B. 9606.ENSP00000490812,SLC35G4,338,Solute carrier family 35 member G4. 9606.ENSP00000490829,SPACA6,324,Sperm acrosome membrane-associated protein 6; Sperm protein potentially involved sperm-egg fusion. 9606.ENSP00000490842,ZNF654,1128,Zinc finger protein 654; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000490857,PRRT1B,263,Proline rich transmembrane protein 1B. 9606.ENSP00000490899,CLEC20A,400,C-type lectin domain containing 20A. 9606.ENSP00000490913,BTBD8,1279,"AP2-interacting clathrin-endocytosis protein; Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission." 9606.ENSP00000490916,BRD3OS,84,Putative uncharacterized protein BRD3OS; BRD3 opposite strand. 9606.ENSP00000490917,SERTM2,89,Serine rich and transmembrane domain containing 2. 9606.ENSP00000490925,C14orf132,114,Uncharacterized protein C14orf132; Chromosome 14 open reading frame 132. 9606.ENSP00000490928,HSFX3,333,"Heat shock transcription factor family, X-linked member 3." 9606.ENSP00000490930,LINC00672,25,Long intergenic non-protein coding RNA 672. 9606.ENSP00000490935,IFIT2,472,"Interferon-induced protein with tetratricopeptide repeats 2; IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2'-O-methylation of the 5' cap. The ribose 2'-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2'-O-methylase for their mRNAs or by stealing host cap containing the 2'-O-methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5' triphosphorylati [...] " 9606.ENSP00000490940,ARHGEF9,529,Rho guanine nucleotide exchange factor 9; Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity). 9606.ENSP00000490941,LOC101059915,518,Uncharacterized protein. 9606.ENSP00000490942,NYAP2,653,Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2; Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis. 9606.ENSP00000490943,ETDB,59,Embryonic testis differentiation homolog B. 9606.ENSP00000490953,ENSP00000490953,201,Uncharacterized protein. 9606.ENSP00000490956,PVALEF,134,Parvalbumin-like EF-hand-containing protein; Parvalbumin like EF-hand containing; Belongs to the parvalbumin family. 9606.ENSP00000491014,MIA2,1412,"Melanoma inhibitory activity protein 2; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum. Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity). Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PR [...] " 9606.ENSP00000491046,ENSP00000491046,283,Uncharacterized protein. 9606.ENSP00000491066,TTLL13P,815,Tubulin polyglutamylase TTLL13P; Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Belongs to the tubulin--tyrosine ligase family. 9606.ENSP00000491067,NECAP1,275,Adaptin ear-binding coat-associated protein 1; Involved in endocytosis. 9606.ENSP00000491070,C17orf100,118,Uncharacterized protein C17orf100; Chromosome 17 open reading frame 100. 9606.ENSP00000491073,ENSP00000491073,684,Uncharacterized protein. 9606.ENSP00000491117,hCG_2014768,64,"HCG2014768, isoform CRA_a." 9606.ENSP00000491174,TAF11L8,198,TATA-box-binding protein-associated factor 11-like 10; TATA-box binding protein associated factor 11 like 8. 9606.ENSP00000491197,ENSP00000491197,400,Homeobox domain-containing protein. 9606.ENSP00000491215,HNRNPU,825,"Heterogeneous nuclear ribonucleoprotein U; DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression. Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability. Required for the localization of the long non-coding Xist RNA on the inactiv [...] " 9606.ENSP00000491227,PARL-2,408,"Presenilins-associated rhomboid-like protein, mitochondrial." 9606.ENSP00000491231,THSD8,115,Thrombospondin type-1 domain-containing protein 8; Thrombospondin type 1 domain containing 8. 9606.ENSP00000491256,B3GNT10,369,"Putative UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase LOC100288842; Putative glycosyltransferase; Belongs to the glycosyltransferase 2 family." 9606.ENSP00000491257,FIGNL2,653,Putative fidgetin-like protein 2; Fidgetin like 2; Belongs to the AAA ATPase family. 9606.ENSP00000491259,PRAMEF13,474,PRAME family member 13; Belongs to the PRAME family. 9606.ENSP00000491279,KDM4F,638,Lysine demethylase 4F. 9606.ENSP00000491285,ENSP00000491285,182,Uncharacterized protein. 9606.ENSP00000491301,DUXB,345,Double homeobox B. 9606.ENSP00000491316,ST3GAL5,418,"Lactosylceramide alpha-2,3-sialyltransferase; Catalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide)." 9606.ENSP00000491320,TRIM75P,468,"Putative tripartite motif-containing protein 75; Tripartite motif containing 75, pseudogene; Belongs to the TRIM/RBCC family." 9606.ENSP00000491327,PRR33,479,Proline-rich protein 33; Proline rich 33. 9606.ENSP00000491332,TAF11L13,198,TATA-box-binding protein-associated factor 11-like 13; TATA-box binding protein associated factor 11 like 13. 9606.ENSP00000491341,LOC102724334,126,Histone H2B type F-S-like. 9606.ENSP00000491351,TAF11L7,198,TATA-box binding protein associated factor 11 like 7. 9606.ENSP00000491377,LRRC8B,803,"Volume-regulated anion channel subunit LRRC8B; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition." 9606.ENSP00000491385,TAF11L6,198,TATA-box binding protein associated factor 11 like 6. 9606.ENSP00000491427,INTS6L,898,Integrator complex subunit 6 like. 9606.ENSP00000491450,GIMD1,217,GTPase IMAP family member GIMD1; GIMAP family P-loop NTPase domain containing 1; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily. 9606.ENSP00000491467,VSIG10L2,767,V-set and immunoglobulin domain containing 10 like 2. 9606.ENSP00000491472,TAF11L14,197,TATA-box-binding protein-associated factor 11-like 14; TATA-box binding protein associated factor 11 like 14. 9606.ENSP00000491494,TAF11L4,198,TATA-box-binding protein-associated factor 11-like 4; TATA-box binding protein associated factor 11 like 4. 9606.ENSP00000491504,ATG9B,924,"Autophagy-related protein 9B; Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity); Belongs to the ATG9 family." 9606.ENSP00000491507,RTTN,2226,"Rotatin; Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2." 9606.ENSP00000491516,SCART1,1027,"Scavenger receptor cysteine-rich domain-containing protein SCART1; May play a role in the immune system, perhaps as a co- receptor on alphabeta and gammadelta T-cells." 9606.ENSP00000491537,FDFT1,476,Squalene synthase; Farnesyl-diphosphate farnesyltransferase 1; Belongs to the phytoene/squalene synthase family. 9606.ENSP00000491546,RAB42,218,"Ras-related protein Rab-42; RAB42, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family." 9606.ENSP00000491567,ZNF888,718,Zinc finger protein 888; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000491574,ERFL,354,ETS domain-containing transcription factor ERF-like; ETS repressor factor like. 9606.ENSP00000491596,ENSP00000491596,1213,Novel protein. 9606.ENSP00000491599,CPHXL,405,Cytoplasmic polyadenylated homeobox like. 9606.ENSP00000491651,ENSP00000491651,181,Glycine cleavage system H protein; The H protein shuttles the methylamine group of glycine from the P protein to the T protein; Belongs to the GcvH family. 9606.ENSP00000491655,CCDC7,1385,Coiled-coil domain-containing protein 7; May play a role in tumorigenesis. 9606.ENSP00000491657,LPP,612,"Lipoma-preferred partner; May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signaling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites. Also suggested to serve as a scaffold protein upon which distinct protein complexes are assembled in the cytoplasm and in the nucleus." 9606.ENSP00000491663,SSU72P4,194,SSU72 pseudogene 4. 9606.ENSP00000491669,SSU72P2,194,SSU72 pseudogene 2. 9606.ENSP00000491717,CATSPERZ,200,"Cation channel sperm-associated protein subunit zeta; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract. Together with EFCAB9, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel." 9606.ENSP00000491720,CSAG2,110,Chondrosarcoma-associated gene 2/3 protein; CSAG family member 2. 9606.ENSP00000491742,BIVM-ERCC5,1640,DNA repair protein-complementing XP-G cells; BIVM-ERCC5 readthrough. 9606.ENSP00000491750,KCNH1-2,95,Potassium voltage-gated channel subfamily H member 1. 9606.ENSP00000491758,TAF11L12,197,TATA-box-binding protein-associated factor 11-like 12; TATA-box binding protein associated factor 11 like 12. 9606.ENSP00000491768,SSU72P3,194,SSU72 pseudogene 3. 9606.ENSP00000491830,ZC3H11A,810,Zinc finger CCCH domain-containing protein 11A; Involved in nuclear mRNA export; probably mediated by association with the TREX complex. 9606.ENSP00000491846,TAF11L11,198,TATA-box-binding protein-associated factor 11-like 11; TATA-box binding protein associated factor 11 like 11. 9606.ENSP00000491865,GAGE12F,117,G antigen 12F. 9606.ENSP00000491873,TAF11L10,198,TATA-box binding protein associated factor 11 like 10. 9606.ENSP00000491894,SSU72P7,194,SSU72 pseudogene 7. 9606.ENSP00000491923,MINDY4B,460,Inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B; MINDY family member 4B; Belongs to the MINDY deubiquitinase family. FAM188 subfamily. 9606.ENSP00000491937,FAM243B,251,Family with sequence similarity 243 member B. 9606.ENSP00000491941,C2orf81,520,Uncharacterized protein C2orf81; Chromosome 2 open reading frame 81. 9606.ENSP00000491949,SSU72P5,194,SSU72 pseudogene 5. 9606.ENSP00000491969,IGLV10-54,117,Immunoglobulin lambda variable 10-54. 9606.ENSP00000492001,PFKFB3,568,"6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family." 9606.ENSP00000492019,SPATA1,459,Spermatogenesis-associated protein 1; Spermatogenesis associated 1. 9606.ENSP00000492024,PAX6,436,"Paired box protein Pax-6; Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes; Belongs to the paired homeobox family." 9606.ENSP00000492033,NCBP2L,153,Nuclear cap binding protein subunit 2 like; Belongs to the RRM NCBP2 family. 9606.ENSP00000492047,TAF11L2,198,Putative TAF11-like protein ENSP00000332601; TATA-box binding protein associated factor 11 like 2; Belongs to the TAF11 family. 9606.ENSP00000492058,PRSS41,318,Serine protease 41; Belongs to the peptidase S1 family. 9606.ENSP00000492108,PERCC1,267,Protein PERCC1; Plays a critical role in intestinal function. Acts by promoting the development of enteroendocrine cells (EECs) of the gastrointestinal tract and pancreas (By similarity). It is thereby required for normal enteroendocrine peptide hormone secretion (By similarity). 9606.ENSP00000492202,ENSP00000492202,384,Uncharacterized protein. 9606.ENSP00000492220,ENSP00000492220,838,DUF1907 domain-containing protein. 9606.ENSP00000492233,PIGN,931,"GPI ethanolamine phosphate transferase 1; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation; Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily." 9606.ENSP00000492240,KCTD7,289,BTB/POZ domain-containing protein KCTD7; May be involved in the control of excitability of cortical neurons. 9606.ENSP00000492260,LIAS,372,"Lipoyl synthase, mitochondrial; Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives." 9606.ENSP00000492273,GSTT4,241,Glutathione S-transferase theta-4; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Belongs to the GST superfamily. Theta family. 9606.ENSP00000492276,CSAG3,110,"Chondrosarcoma-associated gene 2/3 protein; Drug-resistance related protein, its expression is associated with the chemotherapy resistant and neoplastic phenotype. May also be linked to the malignant phenotype." 9606.ENSP00000492284,KANTR,76,KDM5C adjacent transcript. 9606.ENSP00000492303,ENSP00000492303,482,PAS domain-containing protein. 9606.ENSP00000492311,TLE7,441,Transducin-like enhancer protein 7; TLE family member 7; Belongs to the WD repeat Groucho/TLE family. 9606.ENSP00000492363,PRICKLE2,844,Prickle planar cell polarity protein 2. 9606.ENSP00000492367,PYDC2,97,"Pyrin domain-containing protein 2; May play a role in innate immunity by disrupting the interaction between PYCARD and NLRP3, thereby regulating the NLRP3 inflammasome. May also inhibit NF- kappa-B signaling distally by affecting the nuclear accumulation of RELA." 9606.ENSP00000492384,hCG_1642624,340,"HCG1642624, isoform CRA_a." 9606.ENSP00000492416,TMEM225B,221,Transmembrane protein 225B. 9606.ENSP00000492425,NUDT4B,181,Nudix hydrolase 4B. 9606.ENSP00000492439,PRAMEF33,474,PRAME family member 33; Belongs to the PRAME family. 9606.ENSP00000492441,RPS10-NUDT3,291,RPS10-NUDT3 readthrough. 9606.ENSP00000492446,ENSP00000492446,180,Uncharacterized protein. 9606.ENSP00000492463,TAF11L9,198,TATA-box-binding protein-associated factor 11-like 9; TATA-box binding protein associated factor 11 like 9. 9606.ENSP00000492512,SSU72P8,194,SSU72 pseudogene 8. 9606.ENSP00000492557,PMIS2,150,Transmembrane protein PMIS2; May play a role in spermatozoa mobility. Belongs to the CD225/Dispanin family. 9606.ENSP00000492612,GNG14,107,Putative guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14; G protein subunit gamma 14. 9606.ENSP00000492634,INAFM2,153,Putative transmembrane protein INAFM2; InaF motif containing 2. 9606.ENSP00000492671,ARL9,265,ADP-ribosylation factor-like protein 9; ADP ribosylation factor like GTPase 9. 9606.ENSP00000492692,PLEKHG7,379,Pleckstrin homology and RhoGEF domain containing G7. 9606.ENSP00000492719,TRIM43B,446,Tripartite motif containing 43B; Belongs to the TRIM/RBCC family. 9606.ENSP00000492745,ENSP00000492745,713,MFS domain-containing protein. 9606.ENSP00000492752,LINC02218,198,Long intergenic non-protein coding RNA 2218. 9606.ENSP00000492766,FOXL3,233,Fork-head domain-containing protein. 9606.ENSP00000492787,TAF11L3,198,TATA-box-binding protein-associated factor 11-like 3; TATA-box binding protein associated factor 11 like 3. 9606.ENSP00000492790,ZNF705E,300,Putative zinc finger protein 705E; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000492795,SPIN3,258,Spindlin-3; Exhibits H3K4me3-binding activity. Belongs to the SPIN/STSY family. 9606.ENSP00000492798,ENSP00000492798,197,Glycine cleavage system H protein; The H protein shuttles the methylamine group of glycine from the P protein to the T protein; Belongs to the GcvH family. 9606.ENSP00000492874,TAF11L5,198,TATA-box binding protein associated factor 11 like 5. 9606.ENSP00000492887,LOC402624,203,Uncharacterized protein. 9606.ENSP00000492889,ENSP00000492889,314,G_PROTEIN_RECEP_F1_2 domain-containing protein; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492892,OR2B11,317,Olfactory receptor 2B11; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492893,OR14J1,321,Olfactory receptor 14J1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492894,OR6Y1,325,Olfactory receptor 6Y1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492895,OR2T29,315,Olfactory receptor 2T29; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492902,OR10J1,320,Olfactory receptor 10J1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492905,OR10G7,311,Olfactory receptor 10G7; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492906,SCYGR4,105,"Small cysteine and glycine repeat-containing protein 4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000492907,OR6B1,311,Olfactory receptor 6B1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492919,OR10A6,314,Olfactory receptor 10A6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492923,OR11H2,326,Olfactory receptor 11H2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492924,OR9Q2,314,Olfactory receptor 9Q2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492936,OR6P1,317,Olfactory receptor 6P1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492944,OR5P3,311,Olfactory receptor 5P3; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000492947,OR2T2,324,Olfactory receptor 2T2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492951,OR2T11,316,Olfactory receptor 2T11; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492953,OR5H1,313,Olfactory receptor 5H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492957,OR5AN1,311,"Olfactory receptor 5AN1; Odorant receptor involved in the detection of muscone, cyclopentadecanone, cyclopentadecanol, and omega-pentadecalactone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (Probable). Belongs to the G-protein coupled receptor 1 family." 9606.ENSP00000492958,OR2V1,315,Olfactory receptor 2V1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492959,OR2H2,312,Olfactory receptor 2H2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492963,OR51A4,313,Olfactory receptor 51A4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492971,OR4C11,310,Olfactory receptor 4C11; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492973,OR10G3,313,Olfactory receptor 10G3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492974,OR2M2,347,Olfactory receptor 2M2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492975,OR5A2,324,Olfactory receptor 5A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492978,OR6C1,312,Olfactory receptor 6C1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492981,OR2M3,312,Olfactory receptor 2M3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492985,OR4M1,313,Olfactory receptor 4M1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492986,OR51D1,324,Olfactory receptor 51D1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492990,OR6A2,327,Olfactory receptor 6A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492992,OR2M4,311,Olfactory receptor 2M4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492995,OR2T35,323,Olfactory receptor 2T35; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000492999,OR8A1,326,Olfactory receptor 8A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493000,OR2T12,320,Olfactory receptor 2T12; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493003,OR10Z1,313,Olfactory receptor 10Z1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493005,OR51M1,326,Olfactory receptor 51M1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493007,OR4K2,314,Olfactory receptor 4K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493010,OR4D9,314,Olfactory receptor 4D9; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493011,OR52K1,314,Olfactory receptor 52K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493014,OR8B8,311,Olfactory receptor 8B8; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000493015,OR51L1,315,Olfactory receptor 51L1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493016,OR51I2,312,Olfactory receptor 51I2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493020,OR2L3,312,Olfactory receptor 2L3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493023,OR10K1,313,Olfactory receptor 10K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493024,OR14A16,309,Olfactory receptor 14A16; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493026,OR7C1,320,Olfactory receptor 7C1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493031,OR8H2,312,Olfactory receptor 8H2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493034,OR6C3,311,Olfactory receptor 6C3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493035,OR6B3,331,Olfactory receptor 6B3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493043,OR2AP1,309,Olfactory receptor 2AP1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493046,GVQW2,108,Protein GVQW2. 9606.ENSP00000493050,OR51F2,342,Olfactory receptor 51F2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493052,ENSP00000493052,415,G_PROTEIN_RECEP_F1_2 domain-containing protein. 9606.ENSP00000493055,OR7A10,309,Olfactory receptor 7A10; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493066,OR2T5,315,Olfactory receptor 2T5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493070,OR5M3,307,Olfactory receptor 5M3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493074,OR2AG1,316,Olfactory receptor 2AG1; Odorant receptor. 9606.ENSP00000493075,OR2L13,312,Olfactory receptor 2L13; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493082,OR5H15,313,Olfactory receptor 5H15; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493085,OR52E4,312,Olfactory receptor 52E4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493096,OR4C3,329,Olfactory receptor 4C3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493101,SCYGR5,85,Small cysteine and glycine repeat containing 5. 9606.ENSP00000493102,FAM71F2,309,Protein FAM71F2; Family with sequence similarity 71 member F2; Belongs to the FAM71 family. 9606.ENSP00000493103,OR1D2,312,Olfactory receptor 1D2; Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493106,OR4K14,310,Olfactory receptor 4K14; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493107,OR1M1,313,Olfactory receptor 1M1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493109,SCYGR1,88,"Small cysteine and glycine repeat-containing protein 1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000493110,OR13G1,307,Olfactory receptor 13G1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493111,OR4E1,315,Olfactory receptor 4E1; Odorant receptor. 9606.ENSP00000493120,OR8B3,313,Olfactory receptor 8B3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493121,SRGAP2B,459,SLIT-ROBO Rho GTPase-activating protein 2B; May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2. 9606.ENSP00000493124,OR5M1,315,Olfactory receptor 5M1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493131,OR10A2,303,Olfactory receptor 10A2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493137,OR4D2,307,Olfactory receptor 4D2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493148,OR6N2,317,Olfactory receptor 6N2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493151,OR9A4,314,Olfactory receptor 9A4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493152,SCYGR7,96,"Small cysteine and glycine repeat-containing protein 7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000493153,PPT1,306,Palmitoyl-protein thioesterase 1; Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons ; Belongs to the palmitoyl-protein thioesterase family. 9606.ENSP00000493156,SCYGR8,108,"Small cysteine and glycine repeat-containing protein 8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000493157,OR2A12,310,Olfactory receptor 2A12; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493161,TMEM271,385,Transmembrane protein 271. 9606.ENSP00000493162,OR51A7,312,Olfactory receptor 51A7; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493166,OR8J3,315,Olfactory receptor 8J3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493167,TMDD1,317,Transmembrane and death domain 1. 9606.ENSP00000493170,SCYGR3,100,"Small cysteine and glycine repeat-containing protein 3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000493179,OR1A1,309,Olfactory receptor 1A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493181,OR6C4,309,Olfactory receptor 6C4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493184,FOXO6,492,Forkhead box protein O6; Transcriptional activator. 9606.ENSP00000493190,OR52N5,324,Olfactory receptor 52N5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493195,OR5A1,315,Olfactory receptor 5A1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493200,OR7D2,312,Olfactory receptor 7D2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493202,OR2AK2,335,Olfactory receptor 2AK2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493205,OR4K1,311,Olfactory receptor 4K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493207,OR2V2,315,Olfactory receptor 2V2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493217,OR5B3,314,Olfactory receptor 5B3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493218,MFSD8,518,Major facilitator superfamily domain-containing protein 8; May be a carrier that transport small solutes by using chemiosmotic ion gradients. 9606.ENSP00000493222,OR6C2,312,Olfactory receptor 6C2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493226,OR5H14,310,Olfactory receptor 5H14; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493231,OR10D3,312,Putative olfactory receptor 10D3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493232,MICU1,482,"Calcium uptake protein 1, mitochondrial; Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake. Acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening. Enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm. [...] " 9606.ENSP00000493234,OR4D1,310,Olfactory receptor 4D1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493235,OR8B2,313,Olfactory receptor 8B2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493236,OR2T10,312,Olfactory receptor 2T10; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493242,OR10H5,315,Olfactory receptor 10H5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493252,ZFHX3,3703,Zinc finger homeobox protein 3; Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription of AFP via its interaction with SMAD2/3. Regulates the circadian locomotor rhythms via transcriptional activation of neuropeptidergic genes which are essential for intercellular synchrony and rhythm amplitude in the suprachiasmatic nucleus (SCN) of the brain (By similarity). Regulator of myoblasts differentiation throug [...] 9606.ENSP00000493254,OR6N1,312,Olfactory receptor 6N1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493255,OR9G1,305,Olfactory receptor 9G1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493263,OR5B12,314,Olfactory receptor 5B12; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493267,OR5K1,308,Olfactory receptor 5K1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493269,OR5V1,321,Olfactory receptor 5V1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493271,OR8K3,312,Olfactory receptor 8K3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493272,OR52N1,320,Olfactory receptor 52N1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493273,ENSP00000493273,149,Uncharacterized protein. 9606.ENSP00000493276,C3orf56,242,Putative uncharacterized protein C3orf56; Chromosome 3 open reading frame 56. 9606.ENSP00000493283,OR7A17,309,Olfactory receptor 7A17; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493286,OR2T8,312,Olfactory receptor 2T8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493287,OR10H3,316,Olfactory receptor 10H3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493289,OR8G1,311,Olfactory receptor 8G1; Odorant receptor. 9606.ENSP00000493292,SCYGR6,105,"Small cysteine and glycine repeat-containing protein 6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000493295,OR2A5,311,Olfactory receptor 2A5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493297,OR10K2,312,Olfactory receptor 10K2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493298,OR52A5,316,Olfactory receptor 52A5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493299,OR2AT4,320,"Olfactory receptor 2AT4; Olfactory receptor. Activated by the synthetic sandalwood odorant sandalore. Endogenous ligand is unknown (Probable). The activity of this receptor is propably mediated by G proteins which induce elevation of intracellular Ca(2+), a cAMP- dependent pathway and phosphorylation of MAPK1/ERK2, MAPK3/ERK1 and p38 MAPKs. Activation of OR2AT4 induces proliferation, migration, and re-epithelialization during wound-healing processes of keratinocytes. Stimulation of OR2AT4 by sandalore promotes hair growth by decreasing apoptosis and increasing production of the anagen- [...] " 9606.ENSP00000493300,SCYGR2,120,"Small cysteine and glycine repeat-containing protein 2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 28 family." 9606.ENSP00000493302,PNPO,261,Pyridoxine-5'-phosphate oxidase; Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). 9606.ENSP00000493303,OR10A3,314,Olfactory receptor 10A3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493307,OR4N5,308,Olfactory receptor 4N5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493308,OR52H1,320,Olfactory receptor 52H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493312,OR2J1,312,Olfactory receptor 2J1; Odorant receptor. 9606.ENSP00000493316,OR8H1,311,Olfactory receptor 8H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493319,OR56A3,315,Olfactory receptor 56A3; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493320,OR2A7,310,Olfactory receptor 2A7; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493322,OR2Z1,314,Olfactory receptor 2Z1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493323,OR51G2,314,Olfactory receptor 51G2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493325,OR5AS1,324,Olfactory receptor 5AS1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493327,OR4N2,307,Olfactory receptor 4N2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493332,SMIM38,51,Small integral membrane protein 38. 9606.ENSP00000493333,OR2A42,310,Olfactory receptor 2A1/2A42; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493334,OR4C6,309,Olfactory receptor 4C6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493338,OR52N4,321,Olfactory receptor 52N4; Odorant receptor. 9606.ENSP00000493340,OR5H6,325,Olfactory receptor 5H6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493342,OR6F1,308,Olfactory receptor 6F1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493343,OR2A25,310,Olfactory receptor 2A25; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493351,C2orf83,150,Folate transporter-like protein C2orf83; Chromosome 2 open reading frame 83. 9606.ENSP00000493353,OR2A14,310,Olfactory receptor 2A14; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493354,OR10G4,311,Olfactory receptor 10G4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493355,OR2G6,316,Olfactory receptor 2G6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493357,CYTH2,400,"Cytohesin-2; Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane. Involved in neurite growth (By similarity)." 9606.ENSP00000493362,OR2AG2,316,Olfactory receptor 2AG2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493364,OR5T1,326,Olfactory receptor 5T1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493365,OR8D1,308,Olfactory receptor 8D1; Odorant receptor (Potential). May be involved in taste perception. 9606.ENSP00000493366,OR2T6,308,Olfactory receptor 2T6; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493370,OR9I1,314,Olfactory receptor 9I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493382,PHGDH,533,"D-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L- serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family." 9606.ENSP00000493384,OR4P4,312,Olfactory receptor 4P4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493385,OR2C3,320,Olfactory receptor family 2 subfamily C member 3. 9606.ENSP00000493386,OR4E2,313,Olfactory receptor 4E2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493389,OR4S2,311,Olfactory receptor 4S2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493391,OR8D4,314,Olfactory receptor 8D4; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493393,OR1I1,355,Olfactory receptor 1I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493401,OR2J2,312,Olfactory receptor 2J2; Odorant receptor. 9606.ENSP00000493404,OR7D4,312,Olfactory receptor 7D4; Odorant receptor. Selectively activated by androstenone and the related odorous steroid androstadienone. 9606.ENSP00000493405,OR4K13,304,Olfactory receptor 4K13; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493410,OR2L2,312,Olfactory receptor 2L2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493411,OR1L8,309,Olfactory receptor 1L8; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493419,OR5B2,309,Olfactory receptor 5B2; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493430,OR6C75,312,Olfactory receptor 6C75; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493431,OR5AU1,362,Olfactory receptor 5AU1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493434,OR2T27,317,Olfactory receptor 2T27; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493436,OR10H1,318,Olfactory receptor 10H1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493437,OR2T33,320,Olfactory receptor 2T33; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493439,OR2J3,311,"Olfactory receptor 2J3; Odorant receptor involved in the detection of the flavor compound cis-3-hexen-1-ol (C3HEX), a compound typically described as 'green grassy' or the smell of 'cut grass'." 9606.ENSP00000493454,OR2A1,310,Olfactory receptor family 2 subfamily A member 1. 9606.ENSP00000493457,OR1C1,314,Olfactory receptor 1C1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493458,ENSP00000493458,46,G_PROTEIN_RECEP_F1_2 domain-containing protein. 9606.ENSP00000493467,DEXI,95,Dexamethasone-induced protein; Dexi homolog; Belongs to the DEXI family. 9606.ENSP00000493514,SLC25A48,257,Solute carrier family 25 member 48. 9606.ENSP00000493515,TM9SF2,663,"Transmembrane 9 superfamily member 2; In the intracellular compartments, may function as a channel or small molecule transporter." 9606.ENSP00000493536,SAMHD1,626,"Deoxynucleoside triphosphate triphosphohydrolase SAMHD1; Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks. Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early- stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. Not able to [...] " 9606.ENSP00000493540,MRUPP_HUMAN,119,Putative MORF4 family-associated protein 1-like protein UPP; May play a role in cell proliferation. Belongs to the MORF4 family-associated protein family. 9606.ENSP00000493548,ENSP00000493548,192,Uncharacterized protein. 9606.ENSP00000493555,TEX15,3172,"Testis-expressed protein 15; Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair. Belongs to the TEX15 family." 9606.ENSP00000493560,VPS13C,3753,Vacuolar protein sorting-associated protein 13C; Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization. 9606.ENSP00000493594,MYH14,2036,"Myosin-14; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping." 9606.ENSP00000493607,ENSP00000493607,631,Uncharacterized protein. 9606.ENSP00000493623,FYB1,839,FYN-binding protein 1; Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton. Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2. May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity). ECO:0000250|UniProtKB:O35601. 9606.ENSP00000493663,SMIM41,93,Small integral membrane protein 41. 9606.ENSP00000493664,DOCK10,2199,"Dedicator of cytokinesis protein 10; Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression. Belongs to the DOCK family." 9606.ENSP00000493688,PTP4A2,167,Protein tyrosine phosphatase type IVA 2; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB. 9606.ENSP00000493691,ENSP00000493691,985,Uncharacterized protein. 9606.ENSP00000493701,ENSP00000493701,156,Ubiquitin-like domain-containing protein. 9606.ENSP00000493712,RAD51,340,"DNA repair protein RAD51 homolog 1; Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Part of a PALB2-scaffolded HR [...] " 9606.ENSP00000493715,OR2I1P,315,Putative olfactory receptor 2I1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000493716,EFNB2,333,"Ephrin-B2; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to receptor tyrosine kinase including EPHA4, EPHA3 an [...] " 9606.ENSP00000493728,GRB10,632,"Growth factor receptor-bound protein 10; Adapter protein which modulates coupling of a number of cell surface receptor kinases with specific signaling pathways. Binds to, and suppress signals from, activated receptors tyrosine kinases, including the insulin (INSR) and insulin-like growth factor (IGF1R) receptors. The inhibitory effect can be achieved by 2 mechanisms: interference with the signaling pathway and increased receptor degradation. Delays and reduces AKT1 phosphorylation in response to insulin stimulation. Blocks association between INSR and IRS1 and IRS2 and prevents insulin [...] " 9606.ENSP00000493768,COMMD7-2,272,COMM domain-containing protein 7. 9606.ENSP00000493780,ENSP00000493780,1319,Uncharacterized protein; Belongs to the MAGUK family. 9606.ENSP00000493787,TNFRSF10C-2,22,Tumor necrosis factor receptor superfamily member 10C. 9606.ENSP00000493790,LRRC9,1494,Leucine-rich repeat-containing protein 9; Leucine rich repeat containing 9. 9606.ENSP00000493805,HNRNPA1P48,275,Heterogeneous nuclear ribonucleoprotein A1 pseudogene 48. 9606.ENSP00000493820,OR5D3P,323,Olfactory receptor family 5 subfamily D member 3 pseudogene. 9606.ENSP00000493823,ST3GAL3,449,"CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase; Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4- GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal- beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta- 1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc. Belongs to the glycosyltransferase 29 family." 9606.ENSP00000493899,ENSP00000493899,316,Novel protein. 9606.ENSP00000493900,SNTG1,517,Gamma-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation; Belongs to the syntrophin family. 9606.ENSP00000493901,GIPC3,312,PDZ domain-containing protein GIPC3; Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion. 9606.ENSP00000493906,FOXC1,553,"Forkhead box protein C1; DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Acts either as a transcriptional activator or repressor. Binds to the consensus binding site 5'- [G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes. Upon DNA-binding, promotes DNA bending. Acts as a transcriptional coactivator. Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By s [...] " 9606.ENSP00000493946,RPGRIP1L,1315,"Protein fantom; Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins [...] " 9606.ENSP00000493970,ZNF746,659,"Zinc finger protein 746; Transcription repressor that specifically binds to the 5'- TATTTT[T/G]-3' consensus sequence on promoters and repress transcription of PGC-1-alpha (PPARGC1A), thereby playing a role in regulation of neuron death." 9606.ENSP00000493971,PDE8B-2,761,Phosphodiesterase 8B. 9606.ENSP00000493985,KNG1,644,"Low molecular weight growth-promoting factor; (1) Kininogens are inhibitors of thiol proteases; (2) HMW- kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) [...] " 9606.ENSP00000493999,ENSP00000493999,55,Uncharacterized protein. 9606.ENSP00000494009,SLC52A3,469,"Solute carrier family 52, riboflavin transporter, member 3; Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism. Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption." 9606.ENSP00000494017,SLC26A4,780,Pendrin; Sodium-independent transporter of chloride and iodide. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. 9606.ENSP00000494040,DDX3X,662,"ATP-dependent RNA helicase DDX3X; Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double- stranded DNA with a preference for 5'-single-stranded DNA overhangs. Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA. Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities (Probable). Involved in transcription regulation. Positively regulates CDKN1A [...] " 9606.ENSP00000494051,SEPTIN3,856,Neuronal-specific septin-3; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. 9606.ENSP00000494061,MUC2,131,"Mucin-2; Coats the epithelia of the intestines, airways, and other mucus membrane-containing organs. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. Major constituent of both the inner and outer mucus layers of the colon and may play a role in excluding bacteria from the inner mucus layer." 9606.ENSP00000494067,TMF1,1096,TATA element modulatory factor; Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP). 9606.ENSP00000494087,XG,195,Xg glycoprotein; Belongs to the CD99 family. 9606.ENSP00000494103,OOSP4A,184,Oocyte secreted protein family member 4A. 9606.ENSP00000494125,TPM4,284,"Tropomyosin alpha-4 chain; Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments (By similarity). Binds calcium." 9606.ENSP00000494136,SLC6A1,599,Sodium- and chloride-dependent GABA transporter 1; Terminates the action of GABA by its high affinity sodium- dependent reuptake into presynaptic terminals. 9606.ENSP00000494147,DSE,958,Dermatan-sulfate epimerase; Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. 9606.ENSP00000494162,CBLC,474,"E3 ubiquitin-protein ligase CBL-C; Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoi [...] " 9606.ENSP00000494172,ENSP00000494172,201,RING-type domain-containing protein. 9606.ENSP00000494175,HBB,147,"Hemoglobin subunit beta; Involved in oxygen transport from the lung to the various peripheral tissues. [Spinorphin]: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation; Belongs to the globin family." 9606.ENSP00000494177,DDIT3-2,34,DDIT3 upstream open reading frame protein. 9606.ENSP00000494254,OR5BS1P,311,Olfactory receptor family 5 subfamily BS member 1 pseudogene. 9606.ENSP00000494260,HOXA1,335,"Homeobox protein Hox-A1; Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior. Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By s [...] " 9606.ENSP00000494277,PATJ,1882,"InaD-like protein; Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane (Probable). May regulate protein targeting, cell polarity and integrity of tight junctions. May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries." 9606.ENSP00000494286,ENSP00000494286,26,Uncharacterized protein. 9606.ENSP00000494306,ZNF723,513,Zinc finger protein 723; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000494310,GPR174,333,Probable G-protein coupled receptor 174; Putative receptor for purines coupled to G-proteins. 9606.ENSP00000494321,ABCC8,1603,ATP-binding cassette sub-family C member 8; Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 9606.ENSP00000494352,KDSR,332,3-ketodihydrosphingosine reductase; Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS); Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000494359,UPK3BL2,263,Uroplakin 3B like 2. 9606.ENSP00000494360,SUCLA2,463,"Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity)." 9606.ENSP00000494373,MTAP,283,"S-methyl-5'-thioadenosine phosphorylase; Catalyzes the reversible phosphorylation of S-methyl-5'- thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates; Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily." 9606.ENSP00000494382,OOSP4B,160,Oocyte secreted protein family member 4B. 9606.ENSP00000494384,ANKRD40CL,114,Putative ANKRD40 C-terminal-like protein; ANKRD40 C-terminal like. 9606.ENSP00000494468,GJB6,261,"Gap junction beta-6 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Beta-type (group I) subfamily." 9606.ENSP00000494480,TRANK1,2969,Tetratricopeptide repeat and ankyrin repeat containing 1. 9606.ENSP00000494485,OOSP1,200,Putative oocyte-secreted protein 1 homolog; May be involved in cell differentiation; Belongs to the PLAC1 family. 9606.ENSP00000494504,THPO,353,Thrombopoietin; Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets. 9606.ENSP00000494538,CTCF,727,Transcriptional repressor CTCF; Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by ac [...] 9606.ENSP00000494550,MYO1F,1098,"Unconventional myosin-If; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family." 9606.ENSP00000494576,TMIE,156,"Transmembrane inner ear expressed protein; Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain." 9606.ENSP00000494609,ABCC4,1325,Multidrug resistance-associated protein 4; May be an organic anion pump relevant to cellular detoxification; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 9606.ENSP00000494664,HK1,921,"Hexokinase-1; Catalyzes the phosphorylation of various hexoses, such as D- glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6- phosphate, respectively). Does not phosphorylate N-acetyl-D-glucosamine. Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Involved in innate immunity and inflammation by acting as a pattern recognition receptor for bacterial pep [...] " 9606.ENSP00000494667,ENSP00000494667,258,"Novel protein, ortholog of mouse Tomt." 9606.ENSP00000494678,TBC1D24,559,"TBC1 domain family member 24; May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function." 9606.ENSP00000494684,TMC1,760,Transmembrane channel-like protein 1; Probable ion channel required for the normal function of cochlear hair cells; Belongs to the TMC family. 9606.ENSP00000494686,SIX1,284,"Homeobox protein SIX1; Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of nume [...] " 9606.ENSP00000494689,EPS8,822,"Epidermal growth factor receptor kinase substrate 8; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and acti [...] " 9606.ENSP00000494697,RPL9,192,Ribosomal protein L9. 9606.ENSP00000494708,HBD,147,Hemoglobin subunit delta; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family. 9606.ENSP00000494750,ACTB,375,"Actin, cytoplasmic 1, N-terminally processed; Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells. Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction. In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA." 9606.ENSP00000494788,CASK,921,"Peripheral plasma membrane protein CASK; Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1; Belongs to the MAGUK family." 9606.ENSP00000494831,SNRPN,240,Small nuclear ribonucleoprotein-associated protein N; May be involved in tissue-specific alternative RNA processing events. 9606.ENSP00000494883,KRBA2,492,KRAB-A domain containing 2. 9606.ENSP00000494896,TECTB,329,"Beta-tectorin; One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair- cell membrane potential, transducing sound into electrical signals." 9606.ENSP00000494957,UBE2T,197,"Ubiquitin-conjugating enzyme E2 T; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCL and FANCI. May contribute to ubiquitination and degradation of BRCA1. In vitro able to promote polyubiquitination using a [...] " 9606.ENSP00000494965,HARS2,512,"Histidine--tRNA ligase, mitochondrial; Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP)." 9606.ENSP00000495061,PITX2,324,"Pituitary homeobox 2; Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity); Belongs to the paired homeobox family. Bicoid subfamily." 9606.ENSP00000495063,CCDC82,544,Coiled-coil domain containing 82. 9606.ENSP00000495112,NMNAT3,346,Nicotinamide nucleotide adenylyltransferase 3. 9606.ENSP00000495128,SRP72,671,Signal recognition particle subunit SRP72; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function; Belongs to the SRP72 family. 9606.ENSP00000495192,H2BE1,122,H2B.E variant histone 1. 9606.ENSP00000495202,TBCE-2,527,"Tubulin-specific chaperone E; Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network." 9606.ENSP00000495203,KCTD11,232,"BTB/POZ domain-containing protein KCTD11; Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin- dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of [...] " 9606.ENSP00000495214,SPTA1,2419,"Spectrin alpha chain, erythrocytic 1; Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane." 9606.ENSP00000495240,CHD8,2581,Chromodomain-helicase-DNA-binding protein 8; DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive [...] 9606.ENSP00000495242,MYO15B,3112,"Unconventional myosin-XVB; Unknown, due to the absence of a functional motor domain." 9606.ENSP00000495247,MANBA,879,Beta-mannosidase; Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides; Belongs to the glycosyl hydrolase 2 family. 9606.ENSP00000495263,OOSP3,193,Oocyte secreted protein family member 3. 9606.ENSP00000495266,ENSP00000495266,282,DUF4962 domain-containing protein. 9606.ENSP00000495273,RPS7,194,40S ribosomal protein S7; Required for rRNA maturation. 9606.ENSP00000495274,AP3D1,1215,"AP-3 complex subunit delta-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T- cell and NK cell degranulation. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity); Belongs to the adaptor complexe [...] " 9606.ENSP00000495332,SLC12A1,1099,"Solute carrier family 12 member 1; Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation. Electrically silent transporter system." 9606.ENSP00000495360,CTNNB1,781,"Catenin beta-1; Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion, as component of an [...] " 9606.ENSP00000495385,SLC19A3,496,"Thiamine transporter 2; Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family." 9606.ENSP00000495398,MUC19,352,Mucin-19; May function in ocular mucus homeostasis. 9606.ENSP00000495413,TRIM66,1392,"Tripartite motif-containing protein 66; May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity)." 9606.ENSP00000495424,C20orf203,194,Uncharacterized protein C20orf203; Chromosome 20 open reading frame 203. 9606.ENSP00000495463,ASAH2B,165,Putative inactive neutral ceramidase B; N-acylsphingosine amidohydrolase 2B. 9606.ENSP00000495481,MYO15A,3530,"Unconventional myosin-XV; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family." 9606.ENSP00000495507,SLITRK6,841,SLIT and NTRK-like protein 6; Regulator of neurite outgrowth required for normal hearing and vision; Belongs to the SLITRK family. 9606.ENSP00000495530,ENO1,434,"Alpha-enolase; Glycolytic enzyme the catalyzes the conversion of 2- phosphoglycerate to phosphoenolpyruvate. In addition to glycolysis, involved in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production. Belongs to the enolase family." 9606.ENSP00000495537,RPGR,1152,X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia. 9606.ENSP00000495556,TBL1X,577,"F-box-like/WD repeat-containing protein TBL1X; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange." 9606.ENSP00000495557,KCNJ10,379,"ATP-sensitive inward rectifier potassium channel 10; May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellu [...] " 9606.ENSP00000495563,VPS45,570,Vacuolar protein sorting-associated protein 45; May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network. 9606.ENSP00000495564,GRHL2,625,"Grainyhead-like protein 2 homolog; Transcription factor playing an important role in primary neurulation and in epithelial development. Binds directly to the consensus DNA sequence 5'- AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates [...] " 9606.ENSP00000495607,PTPRQ,2299,"Phosphatidylinositol phosphatase PTPRQ; Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5- bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is un [...] " 9606.ENSP00000495612,MEA1,188,Male-enhanced antigen 1; May play an important role in spermatogenesis and/or testis development. 9606.ENSP00000495614,CHN2-2,543,Beta-chimaerin. 9606.ENSP00000495631,ARHGEF7,862,"Rho guanine nucleotide exchange factor 7; Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons." 9606.ENSP00000495672,RPL35A,110,60S ribosomal protein L35a; Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site. 9606.ENSP00000495705,LINC02203,316,Long intergenic non-protein coding RNA 2203. 9606.ENSP00000495710,ACBD6,282,"Acyl-CoA-binding domain-containing protein 6; Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids." 9606.ENSP00000495715,ENSP00000495715,149,Uncharacterized protein. 9606.ENSP00000495718,POU4F3,338,"POU domain, class 4, transcription factor 3; Acts as a transcriptional activator. Acts by binding to sequences related to the consensus octamer motif 5'- ATGCAAAT-3' in the regulatory regions of its target genes. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity)." 9606.ENSP00000495726,IQSEC2,1488,IQ motif and SEC7 domain-containing protein 2; Is a guanine nucleotide exchange factor for the ARF GTP- binding proteins. 9606.ENSP00000495750,GSS,474,Glutathione synthetase. 9606.ENSP00000495778,ABHD5,349,"1-acylglycerol-3-phosphate O-acyltransferase ABHD5; Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfert of an acyl group on a lysophosphatidic acid. Functions preferentially with 1-oleoyl- lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1- stearoyl-lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors (By similarity). Functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycero [...] " 9606.ENSP00000495795,SPG7,795,Paraplegin; ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function ; In the N-terminal section; belongs to the AAA ATPase family. 9606.ENSP00000495811,NDP,133,"Norrin; Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt- dependent activation of FZD4, suggesting the existence of a Wnt- independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible [...] " 9606.ENSP00000495845,DTD1,213,D-aminoacyl-tRNA deacylase 1. 9606.ENSP00000495855,PJVK,352,Pejvakin; Essential in the activity of auditory pathway neurons. 9606.ENSP00000495860,TRPM7,1865,Transient receptor potential cation channel subfamily M member 7; Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A [...] 9606.ENSP00000495909,SPTB,2328,"Spectrin beta chain, erythrocytic; Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane." 9606.ENSP00000495936,TMEM155,130,Transmembrane protein 155. 9606.ENSP00000495949,SLC35E2A,266,Solute carrier family 35 member E2A; Putative transporter. 9606.ENSP00000495951,KITLG,273,"Soluble KIT ligand; Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or M [...] " 9606.ENSP00000495965,MYO3A,1616,"Myosin-IIIa; Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory [...] " 9606.ENSP00000495986,TBX4,546,T-box transcription factor TBX4; Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. 9606.ENSP00000495988,CTXN2,81,Cortexin-2; Cortexin 2. 9606.ENSP00000495996,POU3F4,361,"POU domain, class 3, transcription factor 4; Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain." 9606.ENSP00000496007,SYNGAP1,1343,"Ras/Rap GTPase-activating protein SynGAP; Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity)." 9606.ENSP00000496010,ABHD18,464,Protein ABHD18; Abhydrolase domain containing 18; Belongs to the AB hydrolase superfamily. 9606.ENSP00000496014,H3Y1,136,"Histone H3.Y; Primate-specific variant histone H3, which constitutes a core component of nucleosomes. Histone H3.Y-containing nucleosomes accumulate around transcription start sites and have flexible DNA ends, suggesting that they form relaxed chromatin that allows transcription factor access. Histone H1 binds less efficiently to histone H3.Y-containing nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA repl [...] " 9606.ENSP00000496019,LRTOMT-2,156,Leucine-rich repeat-containing protein 51. 9606.ENSP00000496044,POLR1C,346,"DNA-directed RNA polymerases I and III subunit RPAC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity)." 9606.ENSP00000496114,SCN7A,1682,"Sodium channel protein type 7 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient." 9606.ENSP00000496129,PRKCB,673,"Protein kinase C beta type; Calcium-activated, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signaling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR- induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser- [...] " 9606.ENSP00000496150,CYP2D6,497,"Cytochrome P450 2D6; A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyei [...] " 9606.ENSP00000496151,CFAP97D2,166,Uncharacterized protein CFAP97D2; CFAP97 domain containing 2; Belongs to the CFAP97 family. 9606.ENSP00000496158,ENSP00000496158,600,Uncharacterized protein. 9606.ENSP00000496166,ALDOA,418,"Fructose-bisphosphate aldolase A; Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). Belongs to the class I fructose-bisphosphate aldolase family." 9606.ENSP00000496168,BCL11A,835,B-cell lymphoma/leukemia 11A; Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level. Involved in brain development. May play a role in hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity). 9606.ENSP00000496184,SLC52A2,445,"Solute carrier family 52, riboflavin transporter, member 2; Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism. Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption. May also act as a receptor for 4- hydroxybutyrate (Probable)." 9606.ENSP00000496197,ENSP00000496197,55,Uncharacterized protein. 9606.ENSP00000496229,KIF25,384,Kinesin-like protein KIF25; Minus-end microtubule-dependent motor protein (By similarity). Acts as a negative regulator of centrosome separation required to prevent premature centrosome separation during interphase. Required to maintain a centered nucleus to ensure that the spindle is stably oriented at the onset of mitosis. May also act as a negative regulator of amino acid starvation-induced autophagy. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. 9606.ENSP00000496241,SLC33A1,549,Acetyl-coenzyme A transporter 1; Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides. Negatively regulates BMP signaling. 9606.ENSP00000496250,RPL11,178,"60S ribosomal protein L11; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through [...] " 9606.ENSP00000496255,EYA1,592,"Eyes absent homolog 1; Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in trans [...] " 9606.ENSP00000496268,SGCE,473,"Epsilon-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix." 9606.ENSP00000496301,TRIM8,551,"E3 ubiquitin-protein ligase TRIM8; E3 ubiquitin-protein ligase which plays different roles in immune pathways. Participates in the activation of interferon-gamma signaling by promoting proteasomal degradation of the repressor SOCS1. Plays a positive role in the TNFalpha and IL-1beta signaling pathways. Mechanistically, induces the 'lys-63' polyubiquitination of MAP3K7/TAK1 component leading to the activation of NF-kappa-B. Modulates also STAT3 activity through negative regulation of PIAS3, either by degradation of PIAS3 through the ubiquitin-proteasome pathway or exclusion of PIAS3 fro [...] " 9606.ENSP00000496315,ENSP00000496315,477,NIDO domain-containing protein. 9606.ENSP00000496339,SLC18A2,514,"Synaptic vesicular amine transporter; Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles. Requisite for vesicular amine storage prior to secretion via exocytosis." 9606.ENSP00000496355,TLR5,858,"Toll-like receptor 5; Pattern recognition receptor (PRR) located on the cell surface that participates in the activation of innate immunity and inflammatory response. Recognizes small molecular motifs named pathogen-associated molecular pattern (PAMPs) expressed by pathogens and microbe-associated molecular patterns (MAMPs) usually expressed by resident microbiota. Upon ligand binding such as bacterial flagellins, recruits intracellular adapter proteins MYD88 and TRIF leading to NF- kappa-B activation, cytokine secretion and induction of the inflammatory response. Plays thereby an impo [...] " 9606.ENSP00000496394,TRIOBP,2365,"TRIO and F-actin-binding protein; May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F- actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover." 9606.ENSP00000496396,AVPR2,371,Vasopressin V2 receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. 9606.ENSP00000496397,SMIM40,79,Small integral membrane protein 40. 9606.ENSP00000496414,RDX,604,Radixin; Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane. 9606.ENSP00000496415,FOXF2,444,Forkhead box protein F2; Probable transcription activator for a number of lung- specific genes. Mediates up-regulation of the E3 ligase IRF2BPL and drives ubiquitination and degradation of CTNNB1. 9606.ENSP00000496416,CD8B2,210,T-cell surface glycoprotein CD8 beta-2 chain; Identifies cytotoxic/suppressor T-cells that interact with MHC class I bearing targets. CD8 is thought to play a role in the process of T-cell mediated killing (By similarity). 9606.ENSP00000496422,TCEAL9,104,Transcription elongation factor A protein-like 9; May be involved in transcriptional regulation; Belongs to the TFS-II family. TFA subfamily. 9606.ENSP00000496438,S1PR2,353,"Sphingosine 1-phosphate receptor 2; Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effects on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis. Receptor for the chemokine-like protein FAM19A5. Mediates the inhibitory effect of FAM19A5 on vascular smooth muscle cell proliferation and migration (By similarity)." 9606.ENSP00000496449,PRDM7,492,Probable histone-lysine N-methyltransferase PRDM7; Probable histone methyltransferase. 9606.ENSP00000496470,ENSP00000496470,168,GLOBIN domain-containing protein; Belongs to the globin family. 9606.ENSP00000496487,ENSP00000496487,234,Uncharacterized protein. 9606.ENSP00000496491,SEMA3E,775,"Semaphorin-3E; Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity)." 9606.ENSP00000496494,TPM2,284,"Tropomyosin beta chain; Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization." 9606.ENSP00000496496,TRMU,421,"Mitochondrial tRNA-specific 2-thiouridylase 1; Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. Belongs to the MnmA/TRMU family." 9606.ENSP00000496564,OTOA,1139,Otoancorin; May act as an adhesion molecule; Belongs to the stereocilin family. 9606.ENSP00000496577,SOCS1,211,"Suppressor of cytokine signaling 1; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS1 is involved in negative regulation of cytokines that signal through the JAK/STAT3 pathway. Through binding to JAKs, inhibits their kinase activity. In vitro, also suppresses Tec protein-tyrosine activity. Appears to be a major regulator of signaling by interleukin 6 (IL6) and leukemia inhibitory factor (LIF). Regulates interferon-gamma mediated sensory neuron survival (By similarity). Probable substrate recognition component of an [...] " 9606.ENSP00000496593,ESPN,854,"Espin; Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircas [...] " 9606.ENSP00000496597,PFKM,883,"ATP-dependent 6-phosphofructokinase, muscle type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily." 9606.ENSP00000496625,CYP21A2,495,Steroid 21-hydroxylase; Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids. 9606.ENSP00000496695,ATXN3,361,"Ataxin-3; Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key [...] " 9606.ENSP00000496699,CHAMP1,812,Chromosome alignment-maintaining phosphoprotein 1; Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore. 9606.ENSP00000496713,TUBB8B,444,"Tubulin beta 8B; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Belongs to the tubulin family." 9606.ENSP00000496731,SERAC1,654,Protein SERAC1; Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway. 9606.ENSP00000496779,LZTR1,840,"Leucine-zipper-like transcriptional regulator 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes ; Belongs to the LZTR1 family." 9606.ENSP00000496793,COL9A3,684,Collagen alpha-3(IX) chain; Structural component of hyaline cartilage and vitreous of the eye. 9606.ENSP00000496804,AKR1C8P,326,"Aldo-keto reductase family 1 member C8, pseudogene." 9606.ENSP00000496813,GET1,174,Tail-anchored protein insertion receptor WRB; Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane; Belongs to the WRB/GET1 family. 9606.ENSP00000496817,ENSP00000496817,264,Uncharacterized protein; Belongs to the mitochondrial carrier (TC 2.A.29) family. 9606.ENSP00000496832,ISG15,165,"Ubiquitin-like protein ISG15; Ubiquitin-like protein which plays a key role in the innate immune response to viral infection either via its conjugation to a target protein (ISGylation) or via its action as a free or unconjugated protein. ISGylation involves a cascade of enzymatic reactions involving E1, E2, and E3 enzymes which catalyze the conjugation of ISG15 to a lysine residue in the target protein. Its target proteins include IFIT1, MX1/MxA, PPM1B, UBE2L6, UBA7, CHMP5, CHMP2A, CHMP4B and CHMP6. Can also isgylate: EIF2AK2/PKR which results in its activation, DDX58/RIG-I which inhib [...] " 9606.ENSP00000496842,PNISR,805,Arginine/serine-rich protein PNISR; PNN interacting serine and arginine rich protein; Belongs to the splicing factor SR family. 9606.ENSP00000496848,HLA-DOB,273,"HLA class II histocompatibility antigen, DO beta chain; Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B- cells. Modifies peptide exchange activity of HLA-DM." 9606.ENSP00000496870,LRP2,4655,"Low-density lipoprotein receptor-related protein 2; Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hyp [...] " 9606.ENSP00000496876,ZMYM1,1142,Zinc finger MYM-type containing 1. 9606.ENSP00000496883,LOC112267897,129,Uncharacterized protein. 9606.ENSP00000496921,MCTS2P,181,"Malignant T-cell-amplified sequence; MCTS family member 2, pseudogene." 9606.ENSP00000496925,FAM90A22P,464,Putative protein FAM90A22P; Belongs to the FAM90 family. 9606.ENSP00000496939,KCNN4,427,Intermediate conductance calcium-activated potassium channel protein 4; Forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells. Plays a role in the late stages of EGF-induced macropinocytosis. 9606.ENSP00000496942,JAGN1,183,"Protein jagunal homolog 1; Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contri [...] " 9606.ENSP00000496943,ENSP00000496943,224,Novel protein. 9606.ENSP00000496954,MYO1C,1063,"Unconventional myosin-Ic; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in st [...] " 9606.ENSP00000496959,ITGAM,1153,"Integrin alpha-M; Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles and pathogens. It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration. In association with beta subunit ITGB2/CD18, required for CD177-PRTN [...] " 9606.ENSP00000496978,LOC647264,109,Uncharacterized protein. 9606.ENSP00000496982,ENSP00000496982,738,Uncharacterized protein. 9606.ENSP00000497004,MRPL28,256,Mitochondrial ribosomal protein L28. 9606.ENSP00000497005,FAM90A23P,464,Putative protein FAM90A23P; Belongs to the FAM90 family. 9606.ENSP00000497008,MMAA,418,"Methylmalonic aciduria type A protein, mitochondrial; GTPase, binds and hydrolyzes GTP. Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G- protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) and reactivation of the enzyme during catalysis." 9606.ENSP00000497020,FAM90A18P,464,Putative protein FAM90A18P/FAM90A19P; Belongs to the FAM90 family. 9606.ENSP00000497028,C2orf91,131,Uncharacterized protein C2orf91; Chromosome 2 putative open reading frame 91. 9606.ENSP00000497037,FAM90A16P,464,Putative protein FAM90A16P/FAM90A17P; Belongs to the FAM90 family. 9606.ENSP00000497053,H3Y2,147,"Putative histone H3.X; Primate-specific variant histone H3, which constitutes a core component of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (Probable)." 9606.ENSP00000497069,IGF1R,1367,"Insulin-like growth factor 1 receptor alpha chain; Receptor tyrosine kinase which mediates actions of insulin- like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates ( [...] " 9606.ENSP00000497070,FEZ1,392,Fasciculation and elongation protein zeta-1; May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. Able to restore partial locomotion and axonal fasciculation to C.elegans unc-76 mutants in germline transformation experiments. May participate in the transport of mitochondria and other cargos along microtubules; Belongs to the zygin family. 9606.ENSP00000497072,ENSP00000497072,556,Hist_deacetyl domain-containing protein. 9606.ENSP00000497076,FAM90A7P,464,Putative protein FAM90A7P; Belongs to the FAM90 family. 9606.ENSP00000497102,CTLA4,223,"Cytotoxic T-lymphocyte protein 4; Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28." 9606.ENSP00000497104,SH3BP1,701,"SH3 domain-binding protein 1; GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration. Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions. Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specific [...] " 9606.ENSP00000497110,GRM6,877,"Metabotropic glutamate receptor 6; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision." 9606.ENSP00000497112,HOXA13,388,"Homeobox protein Hox-A13; Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family." 9606.ENSP00000497154,ZNF684,378,Zinc finger protein 684; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000497160,EIF2B5,721,Translation initiation factor eIF-2B subunit epsilon; Catalyzes the exchange of eukaryotic initiation factor 2- bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family. 9606.ENSP00000497164,NNAT,81,"Neuronatin; May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels." 9606.ENSP00000497169,ENSP00000497169,113,Novel protein. 9606.ENSP00000497174,DYNC2H1,4314,Cytoplasmic dynein 2 heavy chain 1; May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity). 9606.ENSP00000497178,GMCL2,526,Germ cell-less protein-like 2; Possible function in spermatogenesis. Probable substrate- specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. 9606.ENSP00000497183,CCBE1,406,Collagen and calcium-binding EGF domain-containing protein 1; Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. Belongs to the CCBE1 family. 9606.ENSP00000497185,TRIM16,564,"Tripartite motif-containing protein 16; E3 ubiquitin ligase that plays an essential role in the organization of autophagic response and ubiquitination upon lysosomal and phagosomal damages. Plays a role in the stress-induced biogenesis and degradation of protein aggresomes by regulating the p62-KEAP1-NRF2 signaling and particularly by modulating the ubiquitination levels and thus stability of NRF2. Acts as a scaffold protein and facilitates autophagic degradation of protein aggregates by interacting with p62/SQSTM, ATG16L1 and LC3B/MAP1LC3B. In turn, protects the cell against oxidative [...] " 9606.ENSP00000497217,FOXL2,376,"Forkhead box protein L2; Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans- differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic [...] " 9606.ENSP00000497221,ITM2B,266,Integral membrane protein 2B; Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites. Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers; Belongs to the ITM2 family. 9606.ENSP00000497225,PCMT1,286,"Protein-L-isoaspartate(D-aspartate) O-methyltransferase; Catalyzes the methyl esterification of L-isoaspartyl and D- aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein." 9606.ENSP00000497230,ENOSF1,443,"Mitochondrial enolase superfamily member 1; Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion." 9606.ENSP00000497236,ALAS2,587,"5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5'-aminolevulinate synthase 2." 9606.ENSP00000497249,CRYBB1,252,Beta-crystallin B1; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000497256,KLHDC7B,1235,Kelch domain containing 7B. 9606.ENSP00000497259,FAM90A9P,464,Putative protein FAM90A9P; Belongs to the FAM90 family. 9606.ENSP00000497260,GNAI1,354,"Guanine nucleotide-binding protein G(i) subunit alpha-1; Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numer [...] " 9606.ENSP00000497271,IFIH1,1025,Interferon-induced helicase C domain-containing protein 1; Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long- dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylat [...] 9606.ENSP00000497274,ABCC2,1545,"Canalicular multispecific organic anion transporter 1; Mediates hepatobiliary excretion of numerous organic anions and conjugated organic anions such as methotrexate, 17beta-estradiol 17-glucosiduronic acid and leukotriene C4. Also transports sulfated bile salt such as taurolithocholate sulfate. May function as a cellular cisplatin transporter. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily." 9606.ENSP00000497280,AGK,422,"Acylglycerol kinase, mitochondrial; Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3- dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex. The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin- [...] " 9606.ENSP00000497290,CDH5,784,Cadherin-5; Cadherins are calcium-dependent cell adhesion proteins (By similarity). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions (By similarity). It associates with alpha-catenin forming a link to the cytoskeleton. Acts in concert with KRIT1 and MPP5 to establish and maintain correct endothelial cell polarity and vascular lu [...] 9606.ENSP00000497294,LHB,141,Lutropin subunit beta; Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. 9606.ENSP00000497305,ENSP00000497305,567,Ricin B-type lectin domain-containing protein. 9606.ENSP00000497308,ZDBF2,2354,DBF4-type zinc finger-containing protein 2; Zinc finger DBF-type containing 2. 9606.ENSP00000497310,ALX3,343,Homeobox protein aristaless-like 3; Transcriptional regulator with a possible role in patterning of mesoderm during development. 9606.ENSP00000497326,CPOX,454,"Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial; Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen- IX." 9606.ENSP00000497351,GAN,597,"Gigaxonin; Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival." 9606.ENSP00000497382,CD53,219,Leukocyte surface antigen CD53; Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity). 9606.ENSP00000497401,TRIM60,471,Tripartite motif containing 60; Belongs to the TRIM/RBCC family. 9606.ENSP00000497402,RCC1,452,"Regulator of chromosome condensation; Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis. Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis. Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import. Involved in the regulation of onset of chromoso [...] " 9606.ENSP00000497406,SETBP1,1596,SET binding protein 1. 9606.ENSP00000497409,PRR20G,210,Proline-rich protein 20G; Proline rich 20G; Belongs to the PRR20 family. 9606.ENSP00000497413,BBS10,723,"Bardet-Biedl syndrome 10 protein; Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. Belongs to the TCP-1 chaperonin family." 9606.ENSP00000497422,EIF4E1B,242,Eukaryotic translation initiation factor 4E type 1B; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure; Belongs to the eukaryotic initiation factor 4E family. 9606.ENSP00000497423,SLC35B1,359,Solute carrier family 35 member B1; Probable sugar transporter; Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. 9606.ENSP00000497429,ENSP00000497429,464,Putative protein FAM90A18P/FAM90A19P. 9606.ENSP00000497439,FAM90A14P,464,Putative protein FAM90A14P; Belongs to the FAM90 family. 9606.ENSP00000497443,ENSP00000497443,310,Uncharacterized protein. 9606.ENSP00000497444,LRPAP1,357,Alpha-2-macroglobulin receptor-associated protein; Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway. Belongs to the alpha-2-MRAP family. 9606.ENSP00000497474,COX7B,80,"Cytochrome c oxidase subunit 7B, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane [...] " 9606.ENSP00000497479,MYT1L,1186,"Myelin transcription factor 1-like protein; Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and [...] " 9606.ENSP00000497482,RTL1,1358,Retrotransposon-like protein 1; Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta. 9606.ENSP00000497483,DHH,396,Desert hedgehog protein C-product; Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development. 9606.ENSP00000497508,ENSP00000497508,464,Putative protein FAM90A16P/FAM90A17P. 9606.ENSP00000497509,ENSP00000497509,550,Novel transcript. 9606.ENSP00000497510,MKKS-2,63,"McKusick-Kaufman syndrome, isoform CRA_a." 9606.ENSP00000497527,INPP5F,1132,"Phosphatidylinositide phosphatase SAC2; Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylinositol 4,5-bisphosphate at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling. Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms. Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation. Negatively reg [...] " 9606.ENSP00000497532,SLC25A38,304,"Mitochondrial glycine transporter; Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the mitochondrial matrix. Required during erythropoiesis. Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily." 9606.ENSP00000497547,LOC102724657,213,Uncharacterized protein. 9606.ENSP00000497550,PI16,463,Peptidase inhibitor 16; May inhibit cardiomyocyte growth. 9606.ENSP00000497569,DARS2,645,"Aspartate--tRNA ligase, mitochondrial; aspartyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000497574,GCLC,637,Glutamate-cysteine ligase catalytic subunit. 9606.ENSP00000497579,ENSP00000497579,95,Uncharacterized protein. 9606.ENSP00000497585,FOXP1-2,677,Forkhead box protein P1; Transcriptional repressor. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of s [...] 9606.ENSP00000497587,NDUFV1,464,"NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)." 9606.ENSP00000497588,PTP4A1,173,"Protein tyrosine phosphatase type IVA 1; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis." 9606.ENSP00000497590,PNRC2,139,Proline-rich nuclear receptor coactivator 2; Involved in nonsense-mediated mRNA decay (NMD) by acting as a bridge between the mRNA decapping complex and the NMD machinery. May act by targeting the NMD machinery to the P-body and recruiting the decapping machinery to aberrant mRNAs. Required for UPF1/RENT1 localization to the P-body. Plays a role in glucocorticoid receptor-mediated mRNA degradation by interacting with the glucocorticoid receptor NR3C1 in a ligand-dependent manner when it is bound to the 5' UTR of target mRNAs and recruiting the RNA helicase UPF1 and the mRNA-decapping e [...] 9606.ENSP00000497594,UBE3A,875,"Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates. Several substrates have been identified including the ARNTL/BMAL1, ARC, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B. Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo [...] " 9606.ENSP00000497609,INO80,1556,"Chromatin-remodeling ATPase INO80; ATPase component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and DNA repair. Binds DNA. As part of the INO80 complex, remodels chromatin by shifting nucleosomes. Regulates transcription upon recruitment by YY1 to YY1-activated genes, where it acts as an essential coactivator. Involved in UV- damage excision DNA repair. The contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation. Involved in DNA replication. Required for microtubule a [...] " 9606.ENSP00000497613,PRSS51,265,Serine protease 51. 9606.ENSP00000497641,EIF4A3,411,"Eukaryotic initiation factor 4A-III, N-terminally processed; ATP-dependent RNA helicase. Involved in pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expr [...] " 9606.ENSP00000497642,LPL,475,"Lipoprotein lipase; Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage. Mediates margination of triglyceride-rich lipoprotein particles in capillaries. Recruited to its site of action on the luminal surface of vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans." 9606.ENSP00000497650,FAM90A10P,464,Putative protein FAM90A10P; Belongs to the FAM90 family. 9606.ENSP00000497651,TMPRSS9,1059,"Transmembrane protease serine 9; Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala-Pro-Ala-AMC are not significantly hydrolyzed; Belongs to the peptidase S1 family." 9606.ENSP00000497653,COL17A1,1497,120 kDa linear IgA disease antigen; May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane. 9606.ENSP00000497669,COG8,612,Conserved oligomeric Golgi complex subunit 8; Required for normal Golgi function. 9606.ENSP00000497679,CDC14C,554,Dual specificity protein phosphatase CDC14C; Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity). 9606.ENSP00000497690,LMBRD1,540,Probable lysosomal cobalamin transporter; Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Belongs to the LIMR family. LMBRD1 subfamily. 9606.ENSP00000497691,APLP2,763,"Amyloid-like protein 2; May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity)." 9606.ENSP00000497716,TRIM51GP,452,"Tripartite motif-containing 51G, pseudogene." 9606.ENSP00000497720,MPIG6B,241,"Megakaryocyte and platelet inhibitory receptor G6b; Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production. Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling. Appears to operate in a calcium-independent manner." 9606.ENSP00000497733,CDC42,191,"Cell division control protein 42 homolog; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Regulates cell migration. In neurons, plays a role in the extension and maintenance of the formation of filopodia, thin and actin-rich surface projections. Required for DOCK10-med [...] " 9606.ENSP00000497734,OR51C1P,312,Olfactory receptor family 51 subfamily C member 1 pseudogene. 9606.ENSP00000497737,EDC3,508,Enhancer of mRNA-decapping protein 3; Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis. 9606.ENSP00000497740,ENSP00000497740,300,G_PROTEIN_RECEP_F1_2 domain-containing protein. 9606.ENSP00000497744,CTPS1,591,"CTP synthase 1; This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity." 9606.ENSP00000497748,BMPER,685,"BMP-binding endothelial regulator protein; Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes." 9606.ENSP00000497759,FOXC2,501,Forkhead box protein C2; Transcriptional activator. Might be involved in the formation of special mesenchymal tissues. 9606.ENSP00000497767,ALDOB,364,"Aldolase, fructose-bisphosphate B." 9606.ENSP00000497775,C2orf15,125,Uncharacterized protein C2orf15; Chromosome 2 open reading frame 15. 9606.ENSP00000497777,EPB42,721,Erythrocyte membrane protein band 4.2; Probably plays an important role in the regulation of erythrocyte shape and mechanical properties. 9606.ENSP00000497784,ALOX12B,701,"Arachidonate 12-lipoxygenase, 12R-type; Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid enve [...] " 9606.ENSP00000497806,DLG4,767,Disks large homolog 4; Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B. Also regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated stat [...] 9606.ENSP00000497810,MAGEL2,1249,"MAGE-like protein 2; Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly. Regulates the circadian clock by repressing the transcriptional activ [...] " 9606.ENSP00000497815,AP5Z1,807,"AP-5 complex subunit zeta-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to it is a putative helicase required for efficient homologous recombination DNA double-strand break repair." 9606.ENSP00000497829,CHRNE,493,"Acetylcholine receptor subunit epsilon; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane." 9606.ENSP00000497858,EDDM13,161,Epididymal protein 13. 9606.ENSP00000497867,CCDC144NL,221,Putative coiled-coil domain-containing protein 144 N-terminal-like; CCDC144A N-terminal pseudogene; Belongs to the CCDC144 family. 9606.ENSP00000497876,ENSP00000497876,767,Novel protein. 9606.ENSP00000497880,NACA-2,196,Uncharacterized protein. 9606.ENSP00000497896,ATP8B1,1251,"Phospholipid-transporting ATPase IC; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile a [...] " 9606.ENSP00000497910,B2M,119,"Beta-2-microglobulin form pI 5.3; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation. Belongs to the beta-2-microglobulin family." 9606.ENSP00000497915,IL21,162,Interleukin-21; Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells. During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation. 9606.ENSP00000497916,NDN,321,"Necdin; Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Functions also as transcription factor and binds directly to specific guanosine-rich DNA sequences (By similarity)." 9606.ENSP00000497931,ABCB11,1321,Bile salt export pump; Catalyzes the secretion of conjugated bile salts across the canalicular membrane of hepatocytes in an ATP-dependent manner. Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts. Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. 9606.ENSP00000497948,TTC37,1564,Tetratricopeptide repeat protein 37; Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C). 9606.ENSP00000497968,IL17A,155,Interleukin-17A; Ligand for IL17RA and IL17RC. The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC. Involved in inducing stromal cells to produce proinflammatory and hematopoietic cytokines ; Belongs to the IL-17 family. 9606.ENSP00000497977,WRB-SH3BGR,273,Uncharacterized protein. 9606.ENSP00000497979,ENSP00000497979,232,Uncharacterized protein. 9606.ENSP00000497997,MALT1,824,"Mucosa-associated lymphoid tissue lymphoma translocation protein 1; Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th [...] " 9606.ENSP00000498010,ENSP00000498010,708,Uncharacterized protein. 9606.ENSP00000498019,RPS17,135,Ribosomal protein S17. 9606.ENSP00000498042,DCLRE1B,532,"5' exonuclease Apollo; 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)- mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres [...] " 9606.ENSP00000498060,RAMACL,118,RNA guanine-7 methyltransferase-activating subunit-like (pseudogene); RNA guanine-7 methyltransferase activating subunit like. 9606.ENSP00000498065,CA5A,305,"Carbonic anhydrase 5A, mitochondrial; Reversible hydration of carbon dioxide. Low activity." 9606.ENSP00000498071,CARD14,1004,"Caspase recruitment domain-containing protein 14; Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases. May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis." 9606.ENSP00000498074,ENPP1,925,"Ectonucleotide pyrophosphatase/phosphodiesterase family member 1, secreted form; Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release [...] " 9606.ENSP00000498083,MKNK1,465,"MAP kinase-interacting serine/threonine-protein kinase 1; May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine- containing mRNA cap. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family." 9606.ENSP00000498087,H2AL1RP,148,"H2A.L variant histone R, pseudogene." 9606.ENSP00000498104,BCL10,233,"B-cell lymphoma/leukemia 10; Involved in adaptive immune response. Promotes apoptosis, pro-caspase-9 maturation and activation of NF- kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1." 9606.ENSP00000498116,DLX5,289,Homeobox protein DLX-5; Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL an [...] 9606.ENSP00000498126,ENSP00000498126,929,Novel protein. 9606.ENSP00000498128,FAM90A8P,464,Putative protein FAM90A8P; Belongs to the FAM90 family. 9606.ENSP00000498132,CAPN5,640,Calpain-5; Calcium-regulated non-lysosomal thiol-protease. 9606.ENSP00000498136,CCDC186,898,Coiled-coil domain containing 186. 9606.ENSP00000498161,TPRA1,373,Transmembrane protein adipocyte associated 1; Belongs to the UPF0359 family. 9606.ENSP00000498190,HESX1,185,"Homeobox expressed in ES cells 1; Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation; Belongs to the ANF homeobox family." 9606.ENSP00000498198,KCNK9,374,"Potassium channel subfamily K member 9; pH-dependent, voltage-insensitive, background potassium channel protein." 9606.ENSP00000498215,FANCB,859,Fanconi anemia group B protein; DNA repair protein required for FANCD2 ubiquitination. 9606.ENSP00000498217,ALX4,411,"Homeobox protein aristaless-like 4; Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development; Belongs to the paired homeobox family." 9606.ENSP00000498227,SELL,385,L-selectin; Calcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia. Belongs to the selectin/LECAM family. 9606.ENSP00000498228,PLAAT1,273,"Phospholipase A and acyltransferase 1; Exhibits both phospholipase A1/2 and acyltransferase activities. Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids. Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid. Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophosph [...] " 9606.ENSP00000498241,INKA1,287,"PAK4-inhibitor INKA1; Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity." 9606.ENSP00000498246,ABCG2,655,"Broad substrate specificity ATP-binding cassette transporter ABCG2; Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells. Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme. Also mediates the efflux of sphingosine-1-P from cells. Acts as a urate exporter functioning in both renal and extra [...] " 9606.ENSP00000498251,MTUS2,1379,Microtubule-associated tumor suppressor candidate 2; Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip. In the C-terminal section; belongs to the MTUS1 family. 9606.ENSP00000498255,UBE2W,191,"Ubiquitin-conjugating enzyme E2 W; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini. Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation [...] " 9606.ENSP00000498258,GPR55,319,G-protein coupled receptor 55; May be involved in hyperalgesia associated with inflammatory and neuropathic pain (By similarity). Receptor for L-alpha- lysophosphatidylinositol (LPI). LPI induces Ca(2+) release from intracellular stores via the heterotrimeric G protein GNA13 and RHOA. Putative cannabinoid receptor. May play a role in bone physiology by regulating osteoclast number and function. 9606.ENSP00000498260,ACSL6,722,"Long-chain-fatty-acid--CoA ligase 6; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl- CoAs produced may be utilized exclusively for the synthesis of the brain lipid; Belongs to the ATP-dependent AMP-binding enzyme family." 9606.ENSP00000498268,DCAKD,231,dephospho-CoA kinase domain containing. 9606.ENSP00000498282,BSND,320,"Barttin; Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter." 9606.ENSP00000498291,ENSP00000498291,66,Uncharacterized protein. 9606.ENSP00000498321,MYD88,317,"Myeloid differentiation primary response protein MyD88; Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription. Involved in IL-18-mediated signaling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes. MyD88-mediated signaling in intestinal epithelial cells is crucial for maintena [...] " 9606.ENSP00000498322,LHFPL5,219,"LHFPL tetraspan subfamily member 5 protein; In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity)." 9606.ENSP00000498330,PPP3R2,173,"Calcineurin subunit B type 2; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity." 9606.ENSP00000498336,MTHFD1,935,"C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed; Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1; In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family." 9606.ENSP00000498358,FECH,429,"Ferrochelatase, mitochondrial; Catalyzes the ferrous insertion into protoporphyrin IX; Belongs to the ferrochelatase family." 9606.ENSP00000498362,PQBP1,265,"Polyglutamine-binding protein 1; Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development. Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species. May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-in [...] " 9606.ENSP00000498374,ALPK1,1244,"Alpha-protein kinase 1; Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity. Specifically recognizes and binds ADP-D-glycero-beta- D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram- negative and some Gram-positive bacteria. ADP- Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering proinflammatory NF-kappa-B signaling. May be involved in monosodium urate m [...] " 9606.ENSP00000498382,DEPDC5,1603,"GATOR complex protein DEPDC5; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway; Belongs to the IML1 family." 9606.ENSP00000498386,KYAT1-2,515,Kynurenine--oxoglutarate transaminase 1. 9606.ENSP00000498395,ENSP00000498395,339,Novel protein. 9606.ENSP00000498402,SUMF2,358,Inactive C-alpha-formylglycine-generating enzyme 2; Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. Belongs to the sulfatase-modifying factor family. 9606.ENSP00000498408,ENSP00000498408,2061,Uncharacterized protein. 9606.ENSP00000498410,ZNF844-2,634,Zinc finger protein 844. 9606.ENSP00000498424,CYP26C1,522,"Cytochrome P450 26C1; Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate); Belongs to the cytochrome P450 family." 9606.ENSP00000498431,SPDYE21P,402,Speedy/RINGO cell cycle regulator family member E21. 9606.ENSP00000498437,ZFP41,199,ZFP41 zinc finger protein. 9606.ENSP00000498441,FGA,866,"Fibrinogen alpha chain; Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re- epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it [...] " 9606.ENSP00000498451,ENSP00000498451,108,Uncharacterized protein. 9606.ENSP00000498466,FAS,335,"Tumor necrosis factor receptor superfamily member 6; Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen- stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro)." 9606.ENSP00000498467,ENSP00000498467,38,BCL6 antisense 1. 9606.ENSP00000498468,C12orf76,135,Uncharacterized protein C12orf76; Chromosome 12 open reading frame 76. 9606.ENSP00000498469,POLR3G,223,"DNA-directed RNA polymerase III subunit RPC7; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the RPC3/POLR3C-RPC6/POLR3F-RPC7/POLR3G subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating cata [...] " 9606.ENSP00000498476,MAP1LC3B,125,"Microtubule-associated proteins 1A/1B light chain 3B; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Promotes primary ciliogenesis by removing OFD1 from centriolar satellit [...] " 9606.ENSP00000498488,SH2D6,361,SH2 domain containing 6. 9606.ENSP00000498490,ZNF487,208,Putative zinc finger protein 487; May be involved in transcriptional regulation. 9606.ENSP00000498497,SPDYE14,265,Uncharacterized protein. 9606.ENSP00000498499,CTC1,1217,"CST complex subunit CTC1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...] " 9606.ENSP00000498510,SPDYE11,265,speedy/RINGO cell cycle regulator family member E11; Belongs to the Speedy/Ringo family. 9606.ENSP00000498512,ADAM20,776,Disintegrin and metalloproteinase domain-containing protein 20; May be involved in sperm maturation and/or fertilization. 9606.ENSP00000498524,ENSP00000498524,285,EXPERA domain-containing protein. 9606.ENSP00000498533,LRRC55,341,"Leucine-rich repeat-containing protein 55; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium." 9606.ENSP00000498556,ZDHHC23,412,"Palmitoyltransferase ZDHHC23; Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane. May be involved in NOS1 regulation and targeting to the synaptic membrane." 9606.ENSP00000498568,ENSP00000498568,67,Uncharacterized protein. 9606.ENSP00000498569,NFE4,179,"Transcription factor NF-E4; Functions as part of the SSP (stage selector protein) complex, a complex that contributes to the preferential expression of the gamma-gene in fetal erythroid cells by facilitating the interaction of the gamma-globin genes with enhancer elements contained in the locus control region (LCR). The complex binds to the stage selector element (SSE) in the proximal gamma-globin promoter. In contrast, isoform 2 acts as a repressor of gamma-globin gene expression by preventing NFE2 and RNA polymerase II recruitment to the promoter." 9606.ENSP00000498577,TPM3,285,"Tropomyosin alpha-3 chain; Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments; Belongs to the tropomyosin family." 9606.ENSP00000498584,ENSP00000498584,712,TGc domain-containing protein. 9606.ENSP00000498587,NOTCH1,2555,"Neurogenic locus notch homolog protein 1; Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the [...] " 9606.ENSP00000498589,ZNF266,549,Zinc finger protein 266; May be involved in transcriptional regulation. 9606.ENSP00000498596,STING1,379,"Stimulator of interferon genes protein; Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm. Acts by binding cyclic dinucleotides: recognizes and binds cyclic di-GMP (c- di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced by CGAS in response to DNA virus in the cytosol. Upon binding of [...] " 9606.ENSP00000498602,ELMO3,773,Engulfment and cell motility protein 3; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity). 9606.ENSP00000498603,WDR26,661,WD repeat-containing protein 26; G-beta-like protein involved in cell signal transduction. Acts as a negative regulator in MAPK signaling pathway. Functions as a scaffolding protein to promote G beta:gamma-mediated PLCB2 plasma membrane translocation and subsequent activation in leukocytes. Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Acts as a negative regulator of the canonical Wnt signaling pathway through preventing ubi [...] 9606.ENSP00000498610,SLC29A1,456,Equilibrative nucleoside transporter 1; Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs). 9606.ENSP00000498611,ANKRD36,1915,Ankyrin repeat domain-containing protein 36A; Ankyrin repeat domain 36. 9606.ENSP00000498616,MYT1,1121,Myelin transcription factor 1; Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription; Belongs to the MYT1 family. 9606.ENSP00000498622,MIP,263,Lens fiber major intrinsic protein; Water channel. Channel activity is down- regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity). Plays a role in cell- to-cell adhesion and facilitates gap junction coupling ; Belongs to the MIP/aquaporin (TC 1.A.8) family. 9606.ENSP00000498626,ENSP00000498626,232,Uncharacterized protein. 9606.ENSP00000498627,ZFHX4,3616,Zinc finger homeobox protein 4; May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation. 9606.ENSP00000498630,IL31RA,764,"Interleukin-31 receptor subunit alpha; Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5. May function in skin immunity. Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor cell survival in vitro (By similarity). Belongs to the type I cytokine receptor family. Type 2 subfamily." 9606.ENSP00000498643,ARMCX5-GPRASP2,547,ARMCX5-GPRASP2 readthrough. 9606.ENSP00000498653,DEK,375,Protein DEK; Involved in chromatin organization. 9606.ENSP00000498656,PWWP3A,711,PWWP domain-containing DNA repair factor 3A; Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage. 9606.ENSP00000498660,B3GALNT1,331,"UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine onto globotriaosylceramide. Plays a critical role in preimplantation stage embryonic development (By similarity); Belongs to the glycosyltransferase 31 family." 9606.ENSP00000498662,LRRC4B,713,Leucine-rich repeat-containing protein 4B; Synaptic adhesion protein. Regulates the formation of excitatory synapses. The trans-synaptic adhesion between LRRC4B and PTPRF regulates the formation of excitatory synapses in a bidirectional manner (By similarity). 9606.ENSP00000498665,MYCBPAP,984,MYCBP-associated protein; May play a role in spermatogenesis. May be involved in synaptic processes (By similarity). 9606.ENSP00000498671,MRTFA,966,"Myocardin-related transcription factor A; Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase- induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F- ac [...] " 9606.ENSP00000498684,FHL1,323,Four and a half LIM domains protein 1; May have an involvement in muscle development or hypertrophy. 9606.ENSP00000498687,SPEGNB,238,SPEG neighbor. 9606.ENSP00000498697,CPAMD8,1932,C3 and PZP like alpha-2-macroglobulin domain containing 8; Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family. 9606.ENSP00000498700,BICD1,975,Protein bicaudal D homolog 1; Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex. 9606.ENSP00000498702,GPR68,365,Ovarian cancer G-protein coupled receptor 1; Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Also functions as a metastasis suppressor gene in prostate cancer (By similarity); Belongs to the G-protein coupled receptor 1 family. 9606.ENSP00000498711,RDH8,331,Retinol dehydrogenase 8; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity). Belongs to the short-chain dehydrogenases/reductases (SDR) family. 9606.ENSP00000498715,INTS14,461,"Integrator complex subunit 14; Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing; Belongs to the INTS14 family." 9606.ENSP00000498721,LOC149373,123,Uncharacterized protein. 9606.ENSP00000498737,PRKY,277,Putative serine/threonine-protein kinase PRKY; Protein kinase Y-linked; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. 9606.ENSP00000498748,GREM1,184,"Gremlin-1; Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity). Belongs to the DAN family." 9606.ENSP00000498750,CCNH,325,"Cyclin-H; Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout t [...] " 9606.ENSP00000498757,CHRNG,517,"Acetylcholine receptor subunit gamma; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane." 9606.ENSP00000498759,GDF5OS,250,"Protein GDF5OS, mitochondrial." 9606.ENSP00000498766,DSPP,1301,Dentin sialophosphoprotein; DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals. 9606.ENSP00000498767,ENSP00000498767,66,annotation not available 9606.ENSP00000498770,ENSP00000498770,232,Uncharacterized protein. 9606.ENSP00000498771,SMIM11A,58,Small integral membrane protein 11A. 9606.ENSP00000498772,CLN5,407,"Ceroid-lipofuscinosis neuronal protein 5, secreted form; Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane." 9606.ENSP00000498781,NBPF19,3843,NBPF member 19. 9606.ENSP00000498782,ENSP00000498782,33,COX assembly mitochondrial protein. 9606.ENSP00000498784,MCM8-2,1009,MCM domain-containing protein; Belongs to the MCM family. 9606.ENSP00000498786,HMBS,361,Porphobilinogen deaminase; Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps; Belongs to the HMBS family. 9606.ENSP00000498791,MED19,261,"Mediator of RNA polymerase II transcription subunit 19; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors." 9606.ENSP00000498797,LOC112577516,137,CUB domain-containing protein. 9606.ENSP00000498801,ENSP00000498801,265,Novel speedy/RINGO cell cycle regulator family member. 9606.ENSP00000498803,KRI1,709,KRI1 homolog; Belongs to the KRI1 family. 9606.ENSP00000498807,BIN2,597,"Bridging integrator 2; Promotes cell motility and migration, probably via its interaction with the cell membrane and with podosome proteins that mediate interaction with the cytoskeleton. Modulates membrane curvature and mediates membrane tubulation. Plays a role in podosome formation. Inhibits phagocytosis." 9606.ENSP00000498819,SPDYE8P,265,"speedy/RINGO cell cycle regulator family member E8, pseudogene." 9606.ENSP00000498852,SPN,400,"CD43 cytoplasmic tail; Predominant cell surface sialoprotein of leukocytes which regulates multiple T-cell functions, including T-cell activation, proliferation, differentiation, trafficking and migration. Positively regulates T-cell trafficking to lymph-nodes via its association with ERM proteins (EZR, RDX and MSN) (By similarity). Negatively regulates Th2 cell differentiation and predisposes the differentiation of T-cells towards a Th1 lineage commitment. Promotes the expression of IFN-gamma by T-cells during T-cell receptor (TCR) activation of naive cells and induces the expression [...] " 9606.ENSP00000498853,NIF3L1,377,"NIF3-like protein 1; May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation." 9606.ENSP00000498855,CAPS,275,Calcyphosin; Calcium-binding protein. May play a role in cellular signaling events (Potential). 9606.ENSP00000498856,SPATA31A1,1361,Spermatogenesis-associated protein 31A1; May play a role in spermatogenesis; Belongs to the SPATA31 family. 9606.ENSP00000498864,PDK3,415,"[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species. Belon [...] " 9606.ENSP00000498867,LARS2,903,"Probable leucine--tRNA ligase, mitochondrial; leucyl-tRNA synthetase 2, mitochondrial." 9606.ENSP00000498872,SNX6,418,"Sorting nexin-6, N-terminally processed; Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile calle [...] " 9606.ENSP00000498875,ZC3H11B,805,Zinc finger CCCH domain-containing protein 11B; May play a role in mRNA transport. 9606.ENSP00000498879,CD59,128,"CD59 glycoprotein; Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase." 9606.ENSP00000498881,ERCC5,1186,"DNA repair protein complementing XP-G cells; Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription- coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too." 9606.ENSP00000498888,PANK4,781,"4'-phosphopantetheine phosphatase; May play a role in the physiological regulation of coenzyme A (CoA) intracellular levels (Probable). The phosphatase activity shows preference for normal or oxidatively damaged intermediates of 4'- phosphopantetheine, which provides strong indirect evidence that the phosphatase activity pre-empts damage in the CoA pathway. Hydrolyzing excess 4'-phosphopantetheine could constitute a directed overflow mechanism to prevent its oxidation to the S-sulfonate, sulfonate, or other forms. Hydrolyzing 4'-phosphopantetheine sulfonate or S-sulfonate would foresta [...] " 9606.ENSP00000498905,CRYBB2,205,Beta-crystallin B2; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family. 9606.ENSP00000498916,FAM27D1,114,Protein FAM27D1; Belongs to the FAM27 family. 9606.ENSP00000498934,GPRASP1,1395,G-protein coupled receptor-associated sorting protein 1; Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2. 9606.ENSP00000498936,ENSP00000498936,62,Uncharacterized protein. 9606.ENSP00000498939,CYP3A4,503,"Cytochrome P450 3A4; A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta- estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxyla [...] " 9606.ENSP00000498941,FAM27E3,113,Protein FAM27E3. 9606.ENSP00000498945,SPDYE9P,265,"speedy/RINGO cell cycle regulator family member E9, pseudogene." 9606.ENSP00000498972,GPR101,508,Probable G-protein coupled receptor 101; Orphan receptor. 9606.ENSP00000498976,GPR19,415,Probable G-protein coupled receptor 19; Orphan receptor. 9606.ENSP00000498991,LOC114841035,142,Uncharacterized protein LOC114841035. 9606.ENSP00000498994,PC,1178,"Pyruvate carboxylase, mitochondrial; Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate." 9606.ENSP00000498998,PRR26,221,Proline-rich protein 26. 9606.ENSP00000498999,FBXW8,598,"F-box/WD repeat-containing protein 8; Substrate-recognition component of a Cul7-RING ubiquitin- protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The Cul7- RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 [...] " 9606.ENSP00000499020,ESYT2,893,Extended synaptotagmin-2; Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP- 2 complex. 9606.ENSP00000499021,FAM161B,710,FAM161 centrosomal protein B; Belongs to the FAM161 family. 9606.ENSP00000499037,CBLB,1010,"E3 ubiquitin-protein ligase CBL-B; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs [...] " 9606.ENSP00000499042,LOC728392,119,Uncharacterized protein. 9606.ENSP00000499044,RPS27,84,40S ribosomal protein S27; Component of the small ribosomal subunit. Required for proper rRNA processing and maturation of 18S rRNAs ; Belongs to the eukaryotic ribosomal protein eS27 family. 9606.ENSP00000499058,DIABLO,239,Diablo IAP-binding mitochondrial protein. 9606.ENSP00000499067,EIF3L,564,"Eukaryotic translation initiation factor 3 subunit L; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] " 9606.ENSP00000499069,FAM219A,185,Protein FAM219A; Family with sequence similarity 219 member A. 9606.ENSP00000499074,IVD,426,"Isovaleryl-CoA dehydrogenase, mitochondrial; isovaleryl-CoA dehydrogenase." 9606.ENSP00000499089,PREP,710,Prolyl endopeptidase; Cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long; Belongs to the peptidase S9A family. 9606.ENSP00000499092,GPRC5C,486,G-protein coupled receptor family C group 5 member C; This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G- protein signaling pathways. 9606.ENSP00000499121,NR1H2,460,"Oxysterols receptor LXR-beta; Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity. Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits [...] " 9606.ENSP00000499123,MS4A4E,331,Putative membrane-spanning 4-domains subfamily A member 4E; Membrane spanning 4-domains A4E; Belongs to the MS4A family. 9606.ENSP00000499129,PDIA4,645,Protein disulfide-isomerase A4; Protein disulfide isomerase family A member 4; Belongs to the protein disulfide isomerase family. 9606.ENSP00000499131,ZNF394,561,Zinc finger protein 394; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family. 9606.ENSP00000499140,CES2,623,"Cocaine esterase; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows high catalytic efficiency for hydrolysis of cocaine, 4-methylumbelliferyl acetate, heroin and 6-monoacetylmorphine. Hydrolyzes aspirin, substrates with large alcohol group and small acyl group and endogenous lipids such as triacylglycerol. Belongs to the type-B carboxylesterase/lipase family." 9606.ENSP00000499149,ENSP00000499149,56,Uncharacterized protein. 9606.ENSP00000499168,CLEC3A,206,C-type lectin domain family 3 member A; Promotes cell adhesion to laminin-332 and fibronectin. 9606.ENSP00000499172,TMEM217-2,170,Transmembrane protein 217. 9606.ENSP00000499185,ENC1,589,Ectoderm-neural cortex protein 1; Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down- regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism. 9606.ENSP00000499192,TSPY9P,314,"Testis-specific Y-encoded protein 4; Testis specific protein Y-linked 9, pseudogene." 9606.ENSP00000499199,SCLY,453,Selenocysteine lyase; Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. 9606.ENSP00000499200,ENSP00000499200,265,Novel speedy/RINGO cell cycle regulator family member. 9606.ENSP00000499205,BLACAT1,33,Bladder cancer associated transcript 1. 9606.ENSP00000499211,CARD8,537,"Caspase recruitment domain-containing protein 8; Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases." 9606.ENSP00000499232,ARHGAP9,821,"Rho GTPase-activating protein 9; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5- bisphosphate." 9606.ENSP00000499238,NUSAP1,441,Nucleolar and spindle-associated protein 1; Microtubule-associated protein with the capacity to bundle and stabilize microtubules (By similarity). May associate with chromosomes and promote the organization of mitotic spindle microtubules around them; Belongs to the NUSAP family. 9606.ENSP00000499241,SLMAP,828,Sarcolemmal membrane-associated protein; May play a role during myoblast fusion; Belongs to the SLMAP family. 9606.ENSP00000499245,C11orf45,145,Putative uncharacterized protein C11orf45; Chromosome 11 open reading frame 45. 9606.ENSP00000499251,NUAK2,672,"NUAK family SNF1-like kinase 2; Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Able to phosphorylate 'Ser-464' of LATS1. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily." 9606.ENSP00000499289,S100A2,97,"Protein S100-A2; May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes. May also play a role in suppressing tumor cell growth." 9606.ENSP00000499300,KCNJ8,424,"ATP-sensitive inward rectifier potassium channel 8; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity). Belon [...] " 9606.ENSP00000499350,ENSP00000499350,1178,Uncharacterized protein. 9606.ENSP00000499371,ERCC6L2,712,DNA excision repair protein ERCC-6-like 2; May be involved in early DNA damage response. 9606.ENSP00000499375,JAKMIP3,844,Janus kinase and microtubule interacting protein 3; Belongs to the JAKMIP family. 9606.ENSP00000499387,SDF4,362,45 kDa calcium-binding protein; May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment; Belongs to the CREC family. 9606.ENSP00000499406,MYL3,195,Myosin light chain 3; Regulatory light chain of myosin. Does not bind calcium. 9606.ENSP00000499422,CUTA,198,Protein CutA; May form part of a complex of membrane proteins attached to acetylcholinesterase (AChE); Belongs to the CutA family. 9606.ENSP00000499455,FOXO3B,290,Forkhead box O3B. 9606.ENSP00000499459,IL19,215,Interleukin-19; May play some important roles in inflammatory responses. Up- regulates IL-6 and TNF-alpha and induces apoptosis (By similarity). 9606.ENSP00000499465,AMPD2,879,AMP deaminase 2; AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle. 9606.ENSP00000499466,PIN4,156,Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4; Isoform 1 is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent AT-rich stretches of double- stranded DNA. 9606.ENSP00000499467,ENSP00000499467,139,Fe2OG dioxygenase domain-containing protein. 9606.ENSP00000499501,H3-2,136,H3.2 histone. 9606.ENSP00000499503,ENSP00000499503,441,Novel protein. 9606.ENSP00000499522,FBXW4,412,F-box/WD repeat-containing protein 4; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling. 9606.ENSP00000499548,NINJ2,188,Ninjurin-2; Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. 9606.ENSP00000499569,SCN11A,1791,"Sodium channel protein type 11 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization." 9606.ENSP00000499582,MANF,185,"Mesencephalic astrocyte-derived neurotrophic factor; Selectively promotes the survival of dopaminergic neurons of the ventral mid-brain. Modulates GABAergic transmission to the dopaminergic neurons of the substantia nigra (By similarity). Enhances spontaneous, as well as evoked, GABAergic inhibitory postsynaptic currents in dopaminergic neurons (By similarity). Inhibits cell proliferation and endoplasmic reticulum (ER) stress-induced cell death. Retained in the ER/sarcoplasmic reticulum (SR) through association with the endoplasmic reticulum chaperone protein HSPA5 under normal conditi [...] " 9606.ENSP00000499593,TNNT2,298,"Troponin T, cardiac muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity." 9606.ENSP00000499655,ARHGEF18-2,1089,"Rho guanine nucleotide exchange factor 18; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumf [...] " 9606.ENSP00000499668,ENSP00000499668,94,Uncharacterized protein. 9606.ENSP00000499676,ANKRD30B,1406,Ankyrin repeat domain 30B. 9606.ENSP00000499683,SFTPB,393,Pulmonary surfactant-associated protein B; Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter. 9606.ENSP00000499695,UCP2,309,"Mitochondrial uncoupling protein 2; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat; Belongs to the mitochondrial carrier (TC 2.A.29) family." 9606.ENSP00000499717,CALM1,150,Calmodulin-1; Calmodulin 1; Belongs to the calmodulin family. 9606.ENSP00000499734,ENSP00000499734,1090,Uncharacterized protein. 9606.ENSP00000499750,SOCS7,581,"Suppressor of cytokine signaling 7; Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of ta [...] " 9606.ENSP00000499751,ASB3,556,Ankyrin repeat and SOCS box protein 3; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B. Belongs to the ankyrin SOCS box (ASB) family. 9606.ENSP00000499770,LINC00634,107,Long intergenic non-protein coding RNA 634. 9606.ENSP00000499786,ITCH,903,"E3 ubiquitin-protein ligase Itchy homolog; Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation. Involved in the control of inflammatory signaling pathways. Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of the complex after [...] " 9606.ENSP00000499795,PRYP3,147,PTPN13 like Y-linked pseudogene 3. 9606.ENSP00000499797,CALM2,149,Calmodulin 2. 9606.ENSP00000499803,YI018_HUMAN,153,Uncharacterized protein FLJ76381. 9606.ENSP00000499846,CNK3/IPCEF1,899,CNK3/IPCEF1 fusion protein; Required for hepatocyte growth factor (HGF)-dependent activation of Arf6 and HGF-stimulated cell migration. 9606.ENSP00000499883,ATP5MC2,157,"ATP synthase F(0) complex subunit C2, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...] " 9606.ENSP00000499900,JAK1,1154,"Tyrosine-protein kinase JAK1; Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase partner for the interleukin (IL)-2 receptor as well as interleukin (IL)-10 receptor." 9606.ENSP00000499935,AK2,239,"Adenylate kinase 2, mitochondrial, N-terminally processed; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis." 9606.ENSP00000499955,ENSP00000499955,70,Uncharacterized protein. 9606.ENSP00000499970,LINC01862,289,Long intergenic non-protein coding RNA 1862. 9606.ENSP00000500034,ATP8B2,1223,Phospholipid-transporting ATPase ID; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. 9606.ENSP00000500094,ATAD3B,648,"ATPase family AAA domain-containing protein 3B; May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes." 9606.ENSP00000500193,BTD,545,"Biotinidase; Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation." 9606.ENSP00000500220,ARSL,614,Arylsulfatase L; May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates. 9606.ENSP00000500237,DPEP3,513,Dipeptidase 3; Probable metalloprotease which hydrolyzes cystinyl-bis- glycine. May be involved in meiosis (By similarity); Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family. 9606.ENSP00000500329,C16orf82,154,Protein TNT; Chromosome 16 open reading frame 82. 9606.ENSP00000500333,SLC25A52,307,Solute carrier family 25 member 52. 9606.ENSP00000500339,ENSP00000500339,444,Uncharacterized protein. 9606.ENSP00000500374,AGAP6,686,"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6; Putative GTPase-activating protein; Belongs to the centaurin gamma-like family." 9606.ENSP00000500386,CAMK2A,489,"Calcium/calmodulin-dependent protein kinase type II subunit alpha; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development. Also regulates the migration of developing neurons. Phosphorylates the transcriptio [...] " 9606.ENSP00000500409,ARHGAP35,1499,"Rho GTPase-activating protein 35; Rho GTPase-activating protein (GAP). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity. This binding is inhibited by phosphorylation by PRKCA. Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similar [...] " 9606.ENSP00000500411,SAMD8,415,Sphingomyelin synthase-related protein 1; Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early s [...] 9606.ENSP00000500443,HHLA1,567,HERV-H LTR-associating 1. 9606.ENSP00000500582,AKT3,479,"RAC-gamma serine/threonine-protein kinase; AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial fo [...] " 9606.ENSP00000500595,OTX2,297,Homeobox protein OTX2; Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'. 9606.ENSP00000500633,ETNK1,452,Ethanolamine kinase 1; Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis. 9606.ENSP00000500695,AP1S2,160,AP-1 complex subunit sigma-2; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. 9606.ENSP00000500891,MUTYH,546,Adenine DNA glycosylase; Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. Belongs to the Nth/MutY family. 9606.ENSP00000500934,MFSD4B,518,Sodium-dependent glucose transporter 1; May function as a sodium-dependent glucose transporter. Potential channels for urea in the inner medulla of kidney. Belongs to the major facilitator superfamily. 9606.ENSP00000500939,C2orf66,117,Uncharacterized protein C2orf66; Chromosome 2 open reading frame 66. 9606.ENSP00000500986,DDHD1,900,"Phospholipase DDHD1; Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity. Required for the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Belongs to the PA-PLA1 family." 9606.ENSP00000500990,SNCA,140,"Alpha-synuclein; Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores. Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis. Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs [...] " 9606.ENSP00000501013,ENSP00000501013,42,Novel protein. 9606.ENSP00000501025,ZBTB3,574,Zinc finger and BTB domain-containing protein 3; May be involved in transcriptional regulation. 9606.ENSP00000501026,DUS4L-BCAP29,588,DUS4L-BCAP29 readthrough. 9606.ENSP00000501047,SPDYE17,402,Putative speedy protein E16; speedy/RINGO cell cycle regulator family member E17. 9606.ENSP00000501053,ADCY7,1080,"Adenylate cyclase type 7; Catalyzes the formation of cAMP in response to activation of G protein-coupled receptors (Probable). Functions in signaling cascades activated namely by thrombin and sphingosine 1-phosphate and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G alpha protein with GNA13. Also, during inflammation, mediates zymosan-induced increase intracellular cAMP, leading to protein kinase A pathway activation in order to modulate innate immune responses through heterotrimeric G proteins G(12/13) (By similarity). Functions in signaling casc [...] " 9606.ENSP00000501085,CCDC180,1701,Coiled-coil domain containing 180. 9606.ENSP00000501088,CFAP298-TCP10L,389,Uncharacterized protein. 9606.ENSP00000501092,TFAP2A,437,"Transcription factor AP-2-alpha; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 [...] " 9606.ENSP00000501093,GKN1,199,Gastrokine-1; Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium. 9606.ENSP00000501098,ENSP00000501098,32,Novel protein. 9606.ENSP00000501111,CEL,756,"Bile salt-activated lipase; Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs). Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity). Has an essential role in the complete digestion of dietary lipids and their intestinal absorption, along with the absorption of fat-soluble vitamins. Belongs to the type-B carboxylesterase/ [...] " 9606.ENSP00000501135,URM1,146,"Ubiquitin-related modifier 1; Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2-thiolation reaction by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS. The thiocarboxylated form serves as substrate for co [...] " 9606.ENSP00000501139,C10orf67,185,"Uncharacterized protein C10orf67, mitochondrial; Chromosome 10 open reading frame 67." 9606.ENSP00000501146,HNF4G,445,Hepatocyte nuclear factor 4-gamma; Transcription factor. Has a lower transcription activation potential than HNF4-alpha; Belongs to the nuclear hormone receptor family. NR2 subfamily. 9606.ENSP00000501150,PIK3CB,1070,"Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation [...] " 9606.ENSP00000501180,MAS1,325,"Proto-oncogene Mas; Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1." 9606.ENSP00000501191,SPATS1,300,Spermatogenesis-associated serine-rich protein 1; Spermatogenesis associated serine rich 1. 9606.ENSP00000501201,TCP11,516,T-complex protein 11 homolog; Plays a role in the process of sperm capacitation and acrosome reactions. Probable receptor for the putative fertilization- promoting peptide (FPP) at the sperm membrane that may modulate the activity of the adenylyl cyclase cAMP pathway. Belongs to the TCP11 family. 9606.ENSP00000501245,CD1D,335,Antigen-presenting glycoprotein CD1d; Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T- cells. 9606.ENSP00000501254,ALDH3B2,385,Aldehyde dehydrogenase family 3 member B2; Oxidizes medium and long chain aldehydes into non-toxic fatty acids; Belongs to the aldehyde dehydrogenase family. 9606.ENSP00000501259,FAM163B,166,Protein FAM163B; Family with sequence similarity 163 member B; Belongs to the FAM163 family. 9606.ENSP00000501265,NWD1,1432,NACHT domain- and WD repeat-containing protein 1; May play a role in the control of androgen receptor (AR) protein steady-state levels. 9606.ENSP00000501277,LDB1,411,"LIM domain-binding protein 1; Binds to the LIM domain of a wide variety of LIM domain- containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state (By similarity). Belongs to the LDB family." 9606.ENSP00000501317,RFX7,1460,DNA-binding protein RFX7; Regulatory factor X7; Belongs to the RFX family.